23 research outputs found
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
- Author
- Allen
- Amy J. LaCroix
- Amy L. Schneider
- Andrew S. Allen
- Annapurna Poduri
- Anthony G. Marson
- Auvin
- Bagnall
- Berg
- Candace T. Myers
- Carvill
- Carvill
- Carvill
- Colton
- Damaj
- Daniel H. Lowenstein
- David Coman
- David B. Goldstein
- de Ligt
- Deepak Gill
- Dennis Dlugos
- Dimassi
- Elliott Sherr
- Erin L. Heinzen
- Evan E. Eichler
- Gemma L. Carvill
- Georgina Hollingsworth
- Hamdan
- Heather C. Mefford
- Hino-Fukuyo
- Hugo Sampaio
- Ingrid E. Scheffer
- Jacinta M. McMahon
- Jeremy Freeman
- Jozef Gecz
- Julia E. Saykally
- Kim
- Kong
- Kong
- Lynette G. Sadleir
- Marina Nikanorova
- Mark Corbett
- Mark I. Rees
- Matthew Zemel
- McTague
- Mefford
- Michael P. Epstein
- Michael R. Johnson
- Nakamura
- Norman Delanty
- Papandreou
- Patrick Carney
- Patrick Cossette
- Petrovski
- Porreca
- Reutens
- Rikke S. Møller
- Ruben Kuzniecky
- Ruth Ottman
- Samocha
- Samuel F. Berkovic
- Seo-Kyung Chung
- Shoubridge
- Slavé Petrovski
- Smith-Packard
- Sophie Calvert
- Stephen Petrou
- Tally Lerman-Sagie
- Tanaka
- Terence J. O’Brien
- Tracy Glauser
- William O. Pickrell
- Xu
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2016
- Field of study
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their underlying genetic heterogeneity. Our previous whole-exome sequencing study of 264 parent-child trios revealed more than 290 candidate genes in which only a single individual had a de novo variant. We sought to identify additional pathogenic variants in a subset (n = 27) of these genes via targeted sequencing in an unsolved cohort of 531 individuals with a diverse range of EEs. We report 17 individuals with pathogenic variants in seven of the 27 genes, defining a genetic etiology in 3.2% of this unsolved cohort. Our results provide definitive evidence that de novo mutations in SLC1A2 and CACNA1A cause specific EEs and expand the compendium of clinically relevant genotypes for GABRB3. We also identified EEs caused by genetic variants in ALG13, DNM1, and GNAO1 and report a mutation in IQSEC2. Notably, recurrent mutations accounted for 7/17 of the pathogenic variants identified. As a result of high-depth coverage, parental mosaicism was identified in two out of 14 cases tested with mutant allelic fractions of 5%–6% in the unaffected parents, carrying significant reproductive counseling implications. These results confirm that dysregulation in diverse cellular neuronal pathways causes EEs, and they will inform the diagnosis and management of individuals with these devastating disorders
Prevalence and architecture of de novo mutations in developmental disorders.
- Author
- Ahmed Munaza
- Aitken Stuart
- Akawi Nadia
- Alvi Mohsan
- Ambridge Kirsty
- Anjum Uruj
- Archer Hayley
- Armstrong Ruth
- Awada Jana
- Balasubramanian Meena
- Banka Siddharth
- Baralle Diana
- Barnicoat Angela
- Barrett Daniel M.
- Barrett Jeffrey C.
- Batstone Paul
- Baty David
- Bayzetinova Tanya
- Bennett Chris
- Berg Jonathan
- Bernhard Birgitta
- Bevan A. Paul
- Bitner-Glindzicz Maria
- Blair Edward
- Blyth Moira
- Bohanna David
- Bourdon Louise
- Bourn David
- Bradley Lisa
- Brady Angela
- Brent Simon
- Brewer Carole
- Brunstrom Kate
- Bunyan David J.
- Burn John
- Canham Natalie
- Castle Bruce
- Chandler Kate
- Chatzimichali Elena
- Cilliers Deirdre
- Clarke Angus
- Clasper Susan
- Clayton Stephen
- Clayton-Smith Jill
- Clowes Virginia
- Coates Andrea
- Cole Trevor
- Colgiu Irina
- Collins Amanda
- Collinson Morag N.
- Connell Fiona
- Cooper Nicola
- Cox Helen
- Cresswell Lara
- Cross Gareth
- Crow Yanick
- D'Alessandro Mariella
- Dabir Tabib
- Davidson Rosemarie
- Davies Sally
- de Vries Dylan
- Dean John
- Deshpande Charu
- Devlin Gemma
- Dixit Abhijit
- Dobbie Angus
- Donaldson Alan
- Donnai Dian
- Donnelly Carina
- Donnelly Deirdre
- Douglas Angela
- Douzgou Sofia
- Duncan Alexis
- Eason Jacqueline
- Ellard Sian
- Ellis Ian
- Elmslie Frances
- Evans Karenza
- Everest Sarah
- Fendick Tina
- Firth Helen V.
- Fisher Richard
- Fitzgerald Tomas W.
- FitzPatrick David R.
- Flinter Frances
- Foulds Nicola
- Fry Andrew
- Fryer Alan
- Gardiner Carol
- Gaunt Lorraine
- Ghali Neeti
- Gibbons Richard
- Gill Harinder
- Goodship Judith
- Goudie David
- Gray Emma
- Green Andrew
- Greene Philip
- Greenhalgh Lynn
- Gribble Susan
- Harrison Lucy
- Harrison Rachel
- Harrison Victoria
- Hawkins Rose
- He Liu
- Hellens Stephen
- Henderson Alex
- Hewitt Sarah
- Hildyard Lucy
- Hobson Emma
- Holden Simon
- Holder Muriel
- Holder Susan
- Hollingsworth Georgina
- Homfray Tessa
- Humphreys Mervyn
- Hurles Matthew E.
- Hurst Jane
- Hutton Ben
- Ingram Stuart
- Irving Melita
- Islam Lily
- Jackson Andrew
- Jarvis Joanna
- Jenkins Lucy
- Johnson Diana
- Jones Elizabeth
- Jones Philip
- Jones Wendy D.
- Josifova Dragana
- Joss Shelagh
- Kaemba Beckie
- Kaplanis Joanna
- Kazembe Sandra
- Kelsell Rosemary
- Kerr Bronwyn
- King Daniel
- Kingston Helen
- Kini Usha
- Kinning Esther
- Kirby Gail
- Kirk Claire
- Kivuva Emma
- Kraus Alison
- Krishnappa Netravathi
- Kumar Dhavendra
- Kumar V. K. Ajith
- Lachlan Katherine
- Lam Wayne
- Lampe Anne
- Langman Caroline
- Lees Melissa
- Lim Derek
- Longman Cheryl
- Lowther Gordon
- Lynch Sally A.
- Magee Alex
- Maher Eddy
- Male Alison
- Mansour Sahar
- Marks Karen
- Martin Katherine
- Mason Laura E.
- Maye Una
- McCann Emma
- McConnell Vivienne
- McEntagart Meriel
- McGowan Ruth
- McKay Kirsten
- McKee Shane
- McMullan Dominic J.
- McNerlan Susan
- McRae Jeremy F.
- McWilliam Catherine
- Mehta Sarju
- Metcalfe Kay
- Middleton Anna
- Miedzybrodzka Zosia
- Miles Emma
- Mohammed Shehla
- Montgomery Tara
- Moore David
- Morgan Sian
- Morton Jenny
- Mugalaasi Hood
- Murday Victoria
- Murphy Helen
- Naik Swati
- Nellåker Chris
- Nemeth Andrea
- Nevitt Louise
- Newbury-Ecob Ruth
- Norman Andrew
- O'Shea Rosie
- Ogilvie Caroline
- Ong Kai-Ren
- Park Soo-Mi
- Parker Michael
- Parker Michael J.
- Patel Chirag
- Paterson Joan
- Payne Stewart
- Perrett Daniel
- Phipps Julie
- Pilz Daniela T.
- Pollard Martin
- Pottinger Caroline
- Poulton Joanna
- Pratt Norman
- Prescott Katrina
- Price Sue
- Pridham Abigail
- Prigmore Elena
- Procter Annie
- Purnell Hellen
- Quarrell Oliver
- Ragge Nicola
- Rahbari Raheleh
- Rajan Diana
- Randall Josh
- Rankin Julia
- Raymond Lucy
- Rice Debbie
- Robert Leema
- Roberts Eileen
- Roberts Gillian
- Roberts Jonathan
- Roberts Paul
- Ross Alison
- Rosser Elisabeth
- Saggar Anand
- Samant Shalaka
- Sampson Julian
- Sandford Richard
- Sarkar Ajoy
- Schweiger Susann
- Scott Richard
- Scurr Ingrid
- Selby Ann
- Seller Anneke
- Sequeira Cheryl
- Shannon Nora
- Sharif Saba
- Shaw-Smith Charles
- Shearing Emma
- Shears Debbie
- Sheridan Eamonn
- Sifrim Alejandro
- Simonic Ingrid
- Singh Tarjinder
- Singzon Roldan
- Skitt Zara
- Smith Audrey
- Smith Kath
- Smithson Sarah
- Sneddon Linda
- Splitt Miranda
- Squires Miranda
- Stewart Fiona
- Stewart Helen
- Straub Volker
- Suri Mohnish
- Sutton Vivienne
- Swaminathan Ganesh Jawahar
- Sweeney Elizabeth
- Tatton-Brown Kate
- Taylor Cat
- Taylor Rohan
- Tein Mark
- Temple I. Karen
- Thomson Jenny
- Tischkowitz Marc
- Tivey Adrian R.
- Tomkins Susan
- Torokwa Audrey
- Treacy Becky
- Turner Claire
- Turnpenny Peter
- Tysoe Carolyn
- Vandersteen Anthony
- Varghese Vinod
- Vasudevan Pradeep
- Vijayarangakannan Parthiban
- Vogt Julie
- Wakeling Emma
- Wallwark Sarah
- Waters Jonathon
- Weber Astrid
- Wellesley Diana
- Whiteford Margo
- Widaa Sara
- Wilcox Sarah
- Wilkinson Emily
- Williams Denise
- Williams Nicola
- Wilson Louise
- Woods Geoff
- Wragg Christopher
- Wright Caroline F.
- Wright Michael
- Yates Laura
- Yau Michael
- Publication venue
- Nature
- Publication date
- 24/01/2017
- Field of study
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
- Author
- Abou Jamra Rami
- Accogli Andrea
- Ahmed Munaza
- Aitken Stuart
- Akawi Nadia
- Alvi Mohsan,
- Ambridge Kirsty
- Amburgey Kimberly
- Anderlid Britt Marie
- Anjum Uruj
- Archer Hayley
- Armstrong Ruth
- Awada Jana
- Azzarello-Burri Silvia
- Balasubramanian Meena
- Banka Siddharth
- Baralle Diana
- Barnicoat Angela
- Barrett Daniel
- Barrett Jeffrey
- Basinger Alice
- Batstone Paul
- Baty David
- Baxter Samantha
- Bayzetinova Tanya
- Bennett Chris
- Berg Jonathan
- Bernhard Birgitta
- Bevan A. Paul
- Bianchini Claudia,
- Bird Lynne
- Bitner-Glindzicz Maria
- Blair Edward
- Blyth Moira
- Bohanna David
- Bourdon Louise
- Bourn David
- Bradley Lisa
- Brady Angela,
- Brent Simon
- Brewer Carole
- Brunstrom Kate
- Buchert Rebecca
- Bunyan David
- Burn John
- Canham Natalie
- Carré Wilfrid
- Castle Bruce
- Ceulemans Sophia
- Chandler Kate
- Charles Perrine
- Chatzimichali Elena
- Cilliers Deirdre
- Clarke Angus
- Clasper Susan
- Clayton Stephen
- Clayton-Smith Jill
- Clowes Virginia
- Coates Andrea
- Cole Trevor
- Colgiu Irina
- Collins Amanda
- Collinson Morag
- Connell Fiona
- Cooper Nicola
- Cox Helen
- Cresswell Lara
- Cross Gareth
- Crow Yanick
- Culliton Lisa
- Currò Aurora
- Dabir Tabib
- Davidson Rosemarie
- Davies Sally
- de Vries Dylan
- Dean John
- Demurger Florence
- Deshpande Charu
- Devlin Gemma
- Dixit Abhijit
- Dobbie Angus
- Donaldson Alan
- Donnai Dian
- Donnelly Carina
- Donnelly Deirdre
- Douglas Angela
- Douzgou Sofia
- Dowling James,
- Duban-Bedu Bénédicte
- Dubourg Christèle
- Duncan Alexis
- D’Alessandro Mariella
- Eason Jacqueline
- Eiset Saga Elise
- Ellard Sian
- Ellis Ian
- Elmslie Frances
- Escobar Luis
- Evans Karenza
- Everest Sarah
- Faundes Víctor
- Fendick Tina
- Ferrarini Alessandra
- Firth Helen
- Fisher Richard
- Fitzgerald Tomas
- Fitzpatrick David
- Flinter Frances
- Foulds Nicola
- Fry Andrew
- Fryer Alan
- Gardiner Carol
- Gaunt Lorraine
- Ghali Neeti
- Gibbons Richard
- Gill Harinder
- Goodship Judith
- Goudie David
- Gray Emma
- Green Andrew
- Greene Philip
- Greenhalgh Lynn
- Gribble Susan
- Haack Tobias,
- Harrison Lucy
- Harrison Rachel
- Harrison Victoria
- Hashim Mona
- Hawkins Rose
- He Liu
- Heide Solveig
- Helbig Ingo
- Helbig Katherine,
- Hellens Stephen
- Henderson Alex
- Heredia Raul
- Hewitt Sarah
- Hildyard Lucy
- Hobson Emma
- Holden Simon
- Holder Muriel
- Holder Susan
- Hollingsworth Georgina
- Homfray Tessa
- Humphreys Mervyn
- Hurles Matthew,
- Hurst Jane
- Hutton Ben
- Héron Delphine
- Ingram Stuart
- Irving Melita
- Isidor Bertrand
- Islam Lily
- Jackson Andrew
- Jarvis Joanna
- Jenkins Lucy
- Johnson Diana
- Jonasson Amy
- Jones Elizabeth
- Jones Philip,
- Jones Wendy
- Joset Pascal
- Josifova Dragana
- Joss Shelagh
- Kaemba Beckie
- Kaplanis Joanna
- Kazembe Sandra
- Kelsell Rosemary
- Keren Boris
- Kerr Bronwyn
- King Daniel
- Kingston Helen
- Kini Usha
- Kinning Esther
- Kirby Gail
- Kirk Claire
- Kivuva Emma
- Kok Fernando
- Kraus Alison
- Krishnappa Netravathi
- Kroes Hester
- Kumar Dhavendra
- Kumar V.
- Lachlan Katherine
- Lam Wayne
- Lampe Anne
- Langman Caroline
- Lavillaureix Alinoë
- Lees Melissa
- Lim Derek
- Longman Cheryl
- Lowther Gordon
- Lu Xin
- Luria Victor
- Lynch Sally
- Maas Saskia
- Maegawa Gustavo H.B.
- Magee Alex
- Maher Eddy
- Male Alison
- Mansour Sahar
- Marcelis Carlo L.M.
- Mark Paul
- Marks Karen
- Martin Katherine,
- Mason Laura
- Masruha Marcelo
- Maye Una
- McCann Emma
- McConnell Vivienne
- McEntagart Meriel
- McGowan Ruth
- McKay Kirsten
- McKee Shane
- McLaughlin Heather
- McMullan Dominic
- McNerlan Susan
- McRae Jeremy
- McWalter Kirsty
- McWilliam Catherine
- Mehta Sarju
- Melchinger Esther
- Mercimek-Andrews Saadet
- Metcalfe Kay
- Middleton Anna
- Miedzybrodzka Zosia
- Miles Emma
- Mohammed Shehla
- Montgomery Tara
- Moore David
- Morgan Sian,
- Morton Jenny
- Mugalaasi Hood
- Murday Victoria
- Murphy Helen
- Naik Swati
- Nava Caroline
- Nellåker Chris
- Nemeth Andrea
- Nevitt Louise
- Newbury-Ecob Ruth
- Norman Andrew
- Ogilvie Caroline
- Ong Kai-Ren
- O’Donnell-Luria Anne
- O’Shea Rosie
- Pais Lynn
- Park Soo-Mi
- Parker Michael
- Patel Chirag
- Paterson Joan
- Payne Stewart
- Pendziwiat Manuela
- Perrett Daniel
- Person Richard,
- Phipps Julie
- Pilz Daniela,
- Pollard Martin
- Pottinger Caroline
- Poulton Joanna
- Pratt Norman
- Prescott Katrina
- Price Sue
- Pridham Abigail
- Prigmore Elena
- Procter Annie
- Purnell Hellen
- Quarrell Oliver
- Ragge Nicola
- Rahbari Raheleh
- Rajan Diana
- Ramelli Gian Paolo
- Ramos Luiza L.P.
- Randall Josh
- Rankin Julia
- Rauch Anita
- Raymond Lucy
- Reavey Caitlin
- Renieri Alessandra
- Rice Debbie
- Rieß Angelika
- Robert Leema
- Roberts Eileen
- Roberts Gillian
- Roberts Jonathan
- Roberts Paul
- Rodan Lance,
- Ross Alison
- Rosser Elisabeth
- Saggar Anand
- Samant Shalaka
- Sampson Julian
- Sanchez-Valle Amarilis
- Sandford Richard
- Sarkar Ajoy
- Sattar Shifteh
- Saunders Carol
- Schwarz Niklas
- Schweiger Susann
- Scott Richard
- Scurr Ingrid
- Selby Ann
- Seller Anneke
- Sequeira Cheryl
- Shannon Nora
- Sharif Saba
- Shaw-Smith Charles
- Shearing Emma
- Shears Debbie
- Sheridan Eamonn
- Sifrim Alejandro
- Simonic Ingrid
- Singh Tarjinder
- Singzon Roldan
- Skitt Zara
- Smith Audrey
- Smith Kath
- Smithson Sarah
- Smol Thomas
- Sneddon Linda
- Splitt Miranda
- Squires Miranda
- Srour Myriam
- Steindl Katharina
- Stewart Fiona
- Stewart Helen
- Straub Volker
- Suri Mohnish
- Sutton Vivienne
- Sveden Abigail
- Swaminathan Ganesh Jawahar
- Sweeney Elizabeth
- Syrbe Steffen
- Tatton-Brown Kate
- Taylor Cat
- Taylor Jenny
- Taylor Rohan
- Tein Mark
- Telegrafi Aida
- Temple I. Karen
- Thiffault Isabelle
- Thomson Jenny
- Tischkowitz Marc
- Tivey Adrian
- Tomkins Susan
- Torokwa Audrey
- Trauner Doris
- Treacy Becky
- Turner Claire
- Turnpenny Peter
- Tysoe Carolyn
- van der Linden Helio
- van Koningsbruggen Silvana
- Vandersteen Anthony,
- Varghese Vinod
- Vasudevan Pradeep
- Vijayarangakannan Parthiban
- Villard Laurent
- Vogel Ida
- Vogt Julie
- Wakeling Emma
- Wallwark Sarah
- Waters Jonathon
- Weber Astrid
- Weber Yvonne
- Wellesley Diana
- Wentzensen Ingrid
- Whiteford Margo
- Widaa Sara
- Widjaja Elysa
- Wilcox Sarah
- Wilkinson Emily
- Williams Denise
- Williams Nicola
- Wilson Louise
- Wood Jordan
- Woods Geoff
- Wragg Christopher
- Wright Caroline
- Wright Michael
- Yates Laura
- Yau Michael
- Zak Jaroslav
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2019
- Field of study
We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
- Author
- Ahmed Munaza
- Aitken Stuart
- Aitman Timothy
- Akawi Nadia
- Al Turki Saeed
- Alachkar Hana
- Ali Sonia
- Allen Hana Lango
- Allen Louise
- Allsup David
- Alvi Mohsan
- Ambegaonkar Gautum
- Ambridge Kirsty
- Anderson Carl
- Anderson Julie
- Anjum Uruj
- Anney Richard
- Antony Dinu
- Antrobus Richard
- Archer Hayley
- Armstrong Ruth
- Armstrong Ruth
- Arno Gavin
- Artigas Maria Soler
- Arumugakani Gururaj
- Ashford Sofie
- Astle William
- Attwood Antony
- Austin Steve
- Awada Jana
- Ayub Muhammad
- Bacchelli Chiara
- Bakchoul Tamam
- Balasubramaniam Senduran
- Balasubramanian Meena
- Banka Siddharth
- Baralle Diana
- Bariana Tadbir K.
- Barnicoat Angela
- Barrett Daniel M.
- Barrett Jeffrey C.
- Barrett Jeffrey C.
- Barroso Inês
- Batstone Paul
- Baty David
- Baxendale Helen
- Bayzetinova Tanya
- Beales Phil
- Bennett Chris
- Bennett David
- Bentham Jamie
- Berg Jonathan
- Bernhard Birgitta
- Bethune Claire
- Bevan A. Paul
- Bhattacharya Shoumo
- Bibi Shahnaz
- Birney Ewan
- Bitner-Glindzicz Maria
- Bitner-Glindzicz Maria
- Blackwood Douglas
- Blair Edward
- Bleda Marta
- Blyth Moira
- Bobrow Martin
- Bochukova Elena
- Boggard Harm
- Bohanna David
- Bolton Patrick
- Bolton-Maggs Paula
- Booth Claire
- Bounds Rebecca
- Bourdon Louise
- Bourn David
- Boustred Chris
- Bradley John R.
- Bradley Lisa
- Brady Angela
- Brady Angie
- Breen Gerome
- Brent Simon
- Brewer Carole
- Brown Matthew
- Browning Michael
- Brunstrom Kate
- Bryant Emily
- Bryson Christine
- Bunyan David J.
- Burn John
- Burns Siobhan
- Calissano Mattia
- Calleja Paul
- Canham Natalie
- Canham Natalie
- Carmichael Jenny
- Carss Keren
- Carss Keren
- Carss Keren J.
- Carvill Gemma L.
- Castle Bruce
- Caulfield Mark
- Chalmers Elizabeth
- Chandler Kate
- Chandra Anita
- Chatterjee Krishna
- Chatzimichali Elena
- Chen Lu
- Chinnery Patrick
- Chitre Manali
- Church Colin
- Ciampi Antonio
- Cilliers Deirdre
- Cirak Sebhattin
- Clapham Peter
- Clarke Angus
- Clasper Susan
- Clayton Stephen
- Clayton-Smith Jill
- Clayton-Smith Jill
- Clement Emma
- Clement Gail
- Clements-Brod Naomi
- Clowes Virginia
- Clowes Virginia
- Coates Andrea
- Coates Guy
- Coghlan Gerry
- Cole Trevor
- Colgiu Irina
- Collier David
- Collins Amanda
- Collins Peter
- Collinson Morag N.
- Connell Fiona
- Cooper Nichola
- Cooper Nicola
- Cosgrove Catherine
- Cox Helen
- Cox Tony
- Craddock Nick
- Creaser-Myers Amanda
- Cresswell Lara
- Crooks Lucy
- Cross Gareth
- Cross J. Helen
- Crow Yanick
- Curran Sarah
- Curtis David
- D?Alessandro Mariella
- Dabir Tabib
- DaCosta Rosa
- Daly Allan
- Daugherty Louise
- Davidson Rosemarie
- Davies Sally
- Davies Sophie
- Davis John
- Day Ian N.M.
- Day-Williams Aaron
- de Vries Dylan
- De Vries Minka
- Dean John
- Debelle Geoff D.
- Deegan Patrick
- Deevi Sri V.V.
- Deshpande Charu
- Deshpande Charu
- Devlin Gemma
- Devlin Lisa
- Dewhurst Eleanor
- Dixit Abhijit
- Dobbie Angus
- Doffinger Rainer
- Donaldson Alan
- Donnai Dian
- Donnelly Carina
- Donnelly Deirdre
- Dormand Natalie
- Douglas Angela
- Douzgou Sofia
- Down Thomas
- Drewe Elizabeth
- Du Yuanping
- Duncan Alexis
- Dunham Ian
- Eason Jacqueline
- Edgar David
- Edkins Sarah
- Egner William
- Ellard Sian
- Ellis Ian
- Ellis Peter
- Elmslie Frances
- Erber Wendy N.
- Erwood Marie
- Evans David
- Evans Karenza
- Everest Sarah
- Everington Tamara
- Faroogi Sadaf
- Fatemifar Ghazaleh
- Favier Remi
- Fendick Tina
- Firth Helen
- Firth Helen V.
- Fisher Richard
- Fitzgerald Tomas W.
- FitzPatrick David R.
- Fitzpatrick David R.
- Fletcher Debra
- Flicek Paul
- Flinter Frances
- Flinter Frances
- Flyod James
- Foley A. Reghan
- Foulds Nicola
- Fox James C.
- Franklin Christopher S.
- Frary Amy
- Freson Kathleen
- Fry Andrew
- Fryer Alan
- Furie Bruce
- Furnell Abigail
- Futema Marta
- Gale Daniel
- Gallagher Louise
- Gardham Alice
- Gardiner Carol
- Gattens Michael
- Gaunt Lorraine
- Geihs Matthias
- Geschwind Daniel
- Ghali Neeti
- Ghali Neeti
- Ghataorhe Pavandeep K.
- Ghurye Rohit
- Gibbons Richard
- Gibbs Simon
- Gill Harinder
- Gilmour Kimberley
- Gissen Paul
- Goddard Sarah
- Gomez Keith
- Goodship Judith
- Gordins Pavel
- Gorman Kathleen M.
- Goudie David
- Gray Emma
- Green Andrew
- Greene Daniel
- Greene Philip
- Greenhalgh Alan
- Greenhalgh Lynn
- Greinacher Andreas
- Gribble Susan
- Griffin Heather
- Grigoriadou Sofia
- Grozeva Detelina
- Gräf Stefan
- Guo Xiaosen
- Guo Xueqin
- Gurling Hugh
- Haack Tobias B.
- Hackett Scott
- Hadinnapola Charaka
- Hague Rosie
- Haimel Matthias
- Halmagyi Csaba
- Hammerton Tracey
- Harrison Lucy
- Harrison Rachel
- Harrison Victoria
- Hart Daniel
- Hart Deborah
- Hawkins Rose
- Hayman Grant
- He Liu
- Heemskerk Johan W.M.
- Hellens Stephen
- Henderson Alex
- Henderson Robert
- Hendricks Audrey
- Hensiek Anke
- Henskens Yvonne
- Herwadkar Archana
- Hewitt Sarah
- Hildyard Lucy
- Hobson Emma
- Holden Simon
- Holden Simon
- Holder Muriel
- Holder Muriel
- Holder Susan
- Holder Susan
- Hollingsworth Georgina
- Holmans Peter
- Homfray Tessa
- Howie Bryan
- Hu Fengyuan
- Huang Liren
- Hubbard Tim
- Huissoon Aarnoud
- Humbert Marc
- Humphreys Mervyn
- Humphries Steve E.
- Hurles Matthew E.
- Hurles Matthew E.
- Hurst Jane
- Hurst Jane
- Hutton Ben
- Hysi Pirro
- Ingram Stuart
- Iotchkova Valentina
- Irving Melita
- Islam Lily
- Jackson Andrew
- Jackson David K.
- James Roger
- Jamshidi Yalda
- Jan-Kamsteeg Eric
- Jarvis Joanna
- Jenkins Lucy
- Jing Tian
- Johnson Diana
- Jolles Stephen
- Jones Elizabeth
- Jones Philip
- Jones Wendy D.
- Josifova Dragana
- Josifova Dragana
- Joss Shelagh
- Joyce Chris
- Kaemba Beckie
- Kaplanis Joanna
- Kaye Jane
- Kazembe Sandra
- Kazmi Rashid
- Keane Thomas
- Keeling David
- Kelleher Peter
- Kelly Anne M.
- Kelsell Rosemary
- Kemp John
- Kennedy Fiona
- Kennedy Karen
- Keogh Julia
- Kerr Bronwyn
- Kiely David
- King Daniel
- King Mary D.
- Kingston Helen
- Kingston Nathalie
- Kini Usha
- Kinning Esther
- Kirby Gail
- Kirk Claire
- Kivuva Emma
- Kolb-Kokocinski Anja
- Koziell Ania
- Kraus Alison
- Krishnakumar Deepa
- Krishnappa Netravathi
- Kuijpers Taco W.
- Kumar Dhavendra
- Kumar V. K. Ajith
- Kumararatne Dinakantha
- Kurian Manju
- Kurian Manju A.
- Lachance Genevieve
- Lachlan Katherine
- Laffan Michael A.
- Lam Wayne
- Lambert Michele P.
- Lampe Anne
- Langford Cordelia
- Langman Caroline
- Lawrie Allan
- Lawson Daniel
- Lear Sara
- Lee Irene
- Lees Melissa
- Lees Melissa
- Lek Monkol
- Lentaigne Claire
- Li Rui
- Li Yingrui
- Liang Jieqin
- Liesner Ri
- Lim Derek
- Lin Hong
- Linger Rachel
- Liu Ryan
- Longhurst Hilary
- Longman Cheryl
- Lopes Margarida
- Lorenzo Lorena
- Lowther Gordon
- Lynch Sally A.
- Lönnqvist Jouko
- MacArthur Daniel
- Machado Rajiv
- Mackenzie Rob
- MacLaren Robert
- Magee Alex
- Maher Eamonn
- Maher Eamonn R.
- Maher Eddy
- Maimaris Jesmeen
- Male Alison
- Mangles Sarah
- Manson Ania
- Mansour Sahar
- Mapeta Rutendo
- Marchini Jonathan
- Marenne Gaëlle
- Marks Karen
- Markus Hugh S.
- Martin Jennifer
- Martin Katherine
- Masati Larahmie
- Maslen John
- Mason Laura E.
- Massimo Mangino
- Mathias Mary
- Mathieson Iain
- Matser Vera
- Maw Anna
- Maye Una
- McCann Emma
- McConnell Vivienne
- McCullagh Gary
- McDermott Elizabeth
- McEntagart Meriel
- McGowan Ruth
- McGuffin Peter
- McIntosh Andrew
- McJannet Coleen
- McKay Kirsten
- McKechanie Andrew G.
- McKee Shane
- McMullan Dominic J.
- McNerlan Susan
- McQuillin Andrew
- McRae Jeremy F.
- McTague Amy
- McWilliam Catherine
- Meacham Stuart
- Meehan Sharon
- Mefford Heather C.
- Megy Karyn
- Mehta Sarju
- Mehta Sarju
- Metcalfe Kay
- Metrustry Sarah
- Meyer Esther
- Michaelides Michel
- Middleton Anna
- Miedzybrodzka Zosia
- Miles Emma
- Millar Carolyn M.
- Millichap John J.
- Mitchison Hannah
- Moayyeri Alireza
- Mohammed Shehla
- Moledina Shahin
- Montgomery Tara
- Moore Anthony
- Moore David
- Morgan Sian
- Morrell Nicholas
- Morris James
- Morton Jenny
- Morton Jenny
- Mugalaasi Hood
- Mumford Andrew
- Muntoni Francesco
- Murday Victoria
- Murng Sai
- Murphy Elaine
- Murphy Helen
- Naik Swati
- Nejentsev Sergey
- Nellåker Chris
- Nemeth Andrea
- Nevitt Louise
- Newbury-Ecob Ruth
- Noorani Sadia
- Norman Andrew
- Northstone Kate
- Nurden Paquita
- O'Donovan Michael
- O'Rahilly Stephen
- O'Shea Rosie
- Ogilvie Caroline
- Oksenhendler Eric
- Ong Kai-Ren
- Onoufriadis Alexandros
- Oualkacha Karim
- Ouwehand Willem H.
- Owen Michael J.
- Paciorkowski Alex R.
- Palotie Aarno
- Panoutsopoulou Kalliope
- Papadia Sofia
- Park Soo-Mi
- Park Soo-Mi
- Parker Alasdair
- Parker Michael
- Parker Michael J.
- Parker Victoria
- Parr Jeremy R.
- Pasi John
- Patch Chris
- Patel Chirag
- Paternoster Lavinia
- Paterson Joan
- Paterson Joan
- Paunio Tiina
- Payne Felicity
- Payne Jeanette
- Payne Stewart
- Peacock Andrew
- Peerlinck Kathelijne
- Penkett Christopher J.
- Pepke-Zaba Joanna
- Perrett Daniel
- Perry David J.
- Phipps Julie
- Pietilainen Olli
- Pilz Daniela T.
- Plagnol Vincent
- Poduri Annapurna
- Pollard Martin
- Pollock Val
- Polwarth Gary
- Ponsford Mark
- Pottinger Caroline
- Poulton Joanna
- Pratt Norman
- Prescott Katrina
- Pressler Ronit M.
- Price Sue
- Pridham Abigail
- Prigmore Elena
- Procter Annie
- Purnell Hellen
- Qasim Waseem
- Quail Michael A.
- Quarrell Oliver
- Quaye Lydia
- Quinti Isabella
- Ragge Nicola
- Rahbari Raheleh
- Rajan Diana
- Randall Josh
- Rankin Julia
- Rankin Julia
- Rankin Stuart
- Raymond F. Lucy
- Raymond F. Lucy
- Raymond Lucy
- Raymond Lucy
- Rehnstrom Karola
- Rehnström Karola
- Reich Adi
- Reid Evan
- Rhodes Christopher J.
- Rice Debbie
- Richards Michael
- Richardson Sylvia
- Richter Alex
- Ring Susan
- Ritchie Graham R.S.
- Robert Leema
- Roberts Eileen
- Roberts Gillian
- Roberts Irene
- Roberts Jonathan
- Roberts Nicola
- Roberts Paul
- Rondina Matthew
- Ross Alison
- Rosser Elisabeth
- Rosser Elisabeth
- Roughley Catherine
- Rue-Albrecht Kevin
- Saggar Anand
- Samant Shalaka
- Samarghitean Crina
- Sampson Julian
- Sanchis-Juan Alba
- Sanchis-Juan Alba
- Sandford Richard
- Sandford Richard
- Santra Saikat
- Sargur Ravishankar
- Sarkar Ajoy
- Savage David B.
- Savic Sinisa
- Scambler Peter
- Scheffer Ingrid E.
- Schiffels Stephen
- Schmidts Miriam
- Schneider Amy L.
- Schoenmakers Nadia
- Schulman Sol
- Schulze Harald
- Schweiger Susann
- Scott Richard
- Scott Richard
- Scully Marie
- Scurr Ingrid
- Selby Ann
- Seller Anneke
- Semple Robert K.
- Seneviratne Suranjith
- Sequeira Cheryl
- Serra Eva
- Sewell Carrock
- Shamardina Olga
- Shannon Nora
- Sharif Saba
- Sharp Sally I.
- Shaw-Smith Charles
- Shearing Emma
- Shears Debbie
- Sheridan Eamonn
- Shin So-Youn
- Shipley Debbie
- Sieciechowicz Diana
- Sifrim Alejandro
- Simeoni Ilenia
- Simonic Ingrid
- Simpson Michael A.
- Singh Tarjinder
- Singzon Roldan
- Sivapalaratnam Suthesh
- Skitt Zara
- Skuse David
- Small Kerrin
- Smith Audrey
- Smith Kath
- Smith Kenneth
- Smithson Sarah
- Sneddon Linda
- Sohal Aman
- Southam Lorraine
- Southgate Laura
- Spasic-Boskovic Olivera
- Spinelli Egidio
- Splitt Miranda
- Squires Miranda
- St Clair David
- St Pourcian Beate
- Staines Simon
- Stalker Jim
- Staples Emily
- Stauss Hans
- Stein Penelope
- Stephens Jonathan
- Stevens Elizabeth
- Stewart Fiona
- Stewart Helen
- Stirrups Kathleen
- Stock Sophie
- Straub Volker
- Sun Jianping
- Suntharalingam Jay
- Suri Mohnish
- Sutton Vivienne
- Suvisaari Jaana
- Swaminathan Ganesh Jawahar
- Sweeney Elizabeth
- Tachmazidou Ionna
- Tait R. Campbell
- Talks Kate
- Tan Yvonne
- Tatton-Brown Kate
- Taylor Cat
- Taylor Rohan
- Tein Mark
- Temple I. Karen
- Thachil Jecko
- Thaventhiran James
- Thomas Ellen
- Thomas Moira
- Thompson Dorothy
- Thomson Jenny
- Thrasher Adrian
- Tischkowitz Marc
- Tischkowitz Marc
- Titterton Catherine
- Tivey Adrian R.
- Tobin Martin D.
- Toh Cheng-Hock
- Tomkins Susan
- Torokwa Audrey
- Toshner Mark
- Treacy Becky
- Treacy Carmen
- Trembath Richard
- Tuna Salih
- Turek Wojciech
- Turner Claire
- Turnpenny Peter
- Turro Ernest
- Tysoe Carolyn
- Valdes Ana
- Van Geet Chris
- Van Kogelenberg Margriet
- Vandersteen Anthony
- Varghese Vinod
- Vasudevan Pradeep
- Veltman Marijke
- Vijayarangakannan Parthiban
- Vijayarangakannan Parthiban
- Visscher Peter M.
- Vogt Julie
- Vogt Julie
- von Ziegenweldt Julie
- Vonk Noordegraaf Anton
- Wain Louise V.
- Wakeling Emma
- Wakeling Emma
- Wallwark Sarah
- Walters James T.R.
- Wang Guangbiao
- Wang Jun
- Wang Yu
- Wanjiku Ivy
- Ward Kirsten
- Warner Timothy Q.
- Wassmer Evangeline
- Wassmer Evangeline
- Waters Jonathon
- Watkins Hugh
- Weber Astrid
- Webster Andrew
- Welch Steve
- Wellesley Diana
- Westbury Sarah
- Wharton John
- Wheeler Elanor
- Whiteford Margo
- Whitehorn Deborah
- Whyte Tamieka
- Widaa Sara
- Wilcox Sarah
- Wilkins Martin
- Wilkinson Emily
- Willcocks Lisa
- Williams Denise
- Williams Hywel
- Williams Nicola
- Williamson Catherine
- Williamson Kathleen A.
- Wilson Crispian
- Wilson Louise
- Wong Kim
- Woods Geoff
- Woods Geoffrey
- Wort John
- Wragg Christopher
- Wright Caroline F.
- Wright Michael
- Xu ChangJiang
- Yang Jian
- Yates Laura
- Yau Michael
- Yeatman Nigel
- Yong Patrick
- Young Tim
- Yu Ping
- Zhang Fend
- Zhang Pingbo
- Publication venue
- AJHG
- Publication date
- 01/01/2019
- Field of study
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)
31st Annual Meeting and Associated Programs of the Society for Immunotherapy of Cancer (SITC 2016) : part two
- Author
- Abassi Yama
- Abelin Jennifer G
- Abolhalaj Milad
- Abraham Tara S
- Adam Ammar
- Adams David
- Adams Homer
- Adams Sarah F
- Adamus Tomasz
- Addepalli Murali
- Addepalli Murali
- Adjei Alex A
- Agapova Larissa
- Agarwala Sanjiv
- Ager Casey
- Aggarwal Charu
- Agnello Giulia
- Agudo Judith
- Aguilar Ethan G
- Aguilera Todd
- Ahamadi Malidi
- Ahn Yong-Oon
- Ahrens Eric T
- Aizer Ayal
- Ajina Reham
- Akerley Wallace
- Al-Muftah Mariam
- Albershardt Tina C
- Albershardt Tina C
- Albrekt Ann-Sofie
- Alekar Shilpa
- Alemany Ramon
- Alemany Ramon
- Alexander Brian
- Allbritton Omaira
- Allen Clint T
- Alley Evan W
- Allison James
- Allison James
- Allison James
- Alston Tesha
- Alt Jürgen
- Alters Susan
- Amatulli Michael
- Anand Snjezana
- Anand Snjezana
- Anand Snjezana
- Anderson Clark
- Anderson Mark
- Andersson Bengt
- Andre Pascale
- Andtbacka Robert H I
- Andtbacka Robert H I
- Angiuoli Sam
- Ansari Tameem
- Anthony Scott
- Antonarakis Emmanuel S
- Antonia Scott J
- Anwar Firoz
- Aquino-Michaels Keston
- Archer Jacob F
- Arina Ainhoa
- Armand Philippe
- Armenta Paul
- Armet Caroline M
- Arnoux Thomas
- Ascarateil Stephane
- Askmyr David
- Atkins Michael
- Atkins Michael B
- Atkinson Victoria
- Au Katrina
- Autio Karen A
- Awad Mark
- Bagarazzi Mark
- Bai Dina
- Baia Gilson
- Baird Jason
- Bajaj Anshika
- Balatoni Timea
- Balboni Tracy
- Balch Leslie
- Bang Andrew
- Bao Riyue
- Bao Yangyi
- Bao Yangyi
- Barakat David
- Barberi Theresa
- Barker Christopher A
- Barnea Eytan
- Barras David
- Bartkowiak Todd
- Bartlett David
- Bartlett David
- Bartlett David
- Bartlett David
- Barton Sunjay M
- Barve Minal
- Bauer Todd
- Bauer Todd W
- Bauman Julie
- Baumgaertner Petra
- Bauml Joshua
- Beceren-Braun Figen
- Beck Kristen
- Becker Annette
- Beckers Johannes
- Beckett Michael A
- Bedognetti Davide
- Bedognetti Davide
- Bedognetti Davide
- Bell Bryan
- Bell Charles J M
- Bell Peter
- Beltran Pedro
- Bender Lewis H
- Bender Steven
- Bennett Mark K
- Benz Steven
- Bera Tapan
- Berglund Peter
- Berglund Peter
- Berkey Sara
- Bernatchez Chantale
- Berry John S
- Berzofsky Jay A
- Bhardwaj Nina
- Bian Zhen
- Bianco Alberto
- Biediger Ronald J
- Bifulco Carlo
- Bigley Alison
- Bingham Patrick
- Biniszkiewicz Detlev M
- Bischoff Helge
- Blake Zoe
- Blake Zoe
- Blakely Collin
- Blazar Bruce R
- Blogowski Wojciech
- Bloom Anja C
- Boehm Jesse
- Bokovanov Vladimir
- Bommareddy Praveen K
- Bommareddy Praveen K
- Bommareddy Praveen K
- Bommareddy Praveen K
- Booth Jamie
- Bornschlegl Svetlana
- Bose Nandita
- Bossenmaier Birgit
- Boughorbel Sabri
- Boyer Jean
- Bramante Simona
- Branstetter Daniel
- Brech Dorothee
- Brenin David
- Broaddus V. C
- Brockstedt Dirk G
- Brockstedt Dirk G
- Brody Joshua
- Bronson Roderick
- Brooks Alan
- Brooks Alan D
- Broucek Joseph
- Brown Alice
- Brown Brian
- Brown Brittany
- Brown Gail L
- Brown Sheila
- Bruce Jeffrey N
- Brunet Laura R
- Bruno Tullia C
- Bryan Jennifer
- Bryant Richard
- Buchbinder Elizabeth
- Bucsek Mark
- Budhu Sadna
- Budhu Sadna
- Budkowska Marta
- Bueno Raphael
- Buettner Florian
- Buettner Nico
- Bullock Kim
- Bullock Kim
- Burova Elena
- Burrill Joel
- Bussler Holm
- Butterfield Lisa H
- Butterfield Lisa H
- Byrne-Steele Miranda
- Cagney Daniel
- Calderon Hugo
- Callahan Margaret K
- Campesato Luis F
- Campogan Dwayne
- Cao Felicia
- Capasso Cristian
- Capasso Cristian
- Caplazi Patrick
- Cappuccini Federica
- Carcaboso Angel M
- Carlino Matteo S
- Carpi Sara
- Carrasco Ruben
- Carrera Diego A
- Carrero Rosa M S
- Carson Dennis A
- Castellini Laura
- Cathomas Richard
- Cauvin Annick
- Cauwenberghs Sandra
- Caux Christophe
- Cebon Jonathan S
- Ceccarelli Michele
- Celis Esteban
- Cerignoli Fabio
- Cerullo Vincenzo
- Cerullo Vincenzo
- Cervera-Carrascón Víctor
- Cesareni Gianni
- Cha John
- Cha John
- Cha John
- Champion Brian
- Chan Anissa S H
- Chan Chanty
- Chan Chanty
- Chan Ivan
- Chan Leo
- Chan Timothy A
- Chang Alfred E
- Chang Alfred E
- Chang Joe
- Chang Nancy N
- Chang Thomas
- Chanuc Fabien
- Chapelin Fanny
- Chaplin Jenny
- Chappel Scott C
- Charych Deborah H
- Charych Deborah H
- Chaudhuri Amitabha
- Chaussabel Damien
- Chen Ada
- Chen Ada
- Chen Gang
- Chen Jason
- Chen Jason
- Chen Xiaomu
- Chen Xin
- Chen Xiufen
- Chen Yu
- Chen Yu
- Chenchik Alex
- Chheda Zinal
- Chiang Eugene
- Chikina Maria
- Chittenden Thomas
- Chiu Hsiling
- Cho Charles
- Chongyung Fang
- Chou Margaret
- Choueiri Toni K
- Choy Carmen
- Clark Joseph I
- Clavijo Paul E
- Clifton Guy T
- Clynes Raphael
- Cobbold Mark
- Cobbold Mark
- Cobbold Mark
- Coder Brandon
- Coffman Robert L
- Cohen Cyrille
- Cohen Ezra E W
- Cohen Roger
- Colen Rivka
- Colevas A. D
- Collins Natalie
- Colrain Jillian
- Coltharp Carla
- Concha-Benavente Fernando
- Connolly Eileen P
- Conwell Darwin
- Conwell Darwin
- Corrales Leticia P
- Corrales Leticia P
- Coukos George
- Coukos George
- Coussens Lisa M
- Coussens Lisa M
- Craggs Graham
- Craig Andrew
- Crittenden Marka
- Cron Kyle R
- Cronstein Bruce N
- Crooks James
- Crosby Andrea
- Crosignani Stefano
- Crowder Robert
- Cruickshank Scott
- Csuka Orsolya
- Curbishley Stuart
- Curiel Tyler
- Curran Emily
- Curran Michael
- Curti Brendan
- Curti Brendan
- Da Costa Andre
- Dai Fu
- Dai Jie
- Dai Peihong
- Dalgleish Angus
- Dalvie Deepak
- Daniels Gregory A
- Daud Adil
- David Justin M
- Davies Bronwyn
- de Boisferon Marc H
- de Groot Patricia
- de Gruijl Tanja
- De Henau Olivier
- de Leon Laura
- De Maeseneire Coraline
- De Sanctis Francesco
- de Silva Suresh
- Deacon Donna
- Deacon Donna H
- DeBenedette Mark
- DeBenedette Mark
- Declerck Paul
- Decock Julie
- Decock Julie
- DeFalco Jeff
- Dela Cruz Filemon
- Delgoffe Greg
- Delgoffe Greg M
- Delgoffe Greg M
- Delgoffe Greg M
- Delogu Lucia
- Delorenzi Mauro
- Demaria Sandra
- Demaria Sandra
- Deng Liang
- Deng Weiwen
- Deng Wentao
- Denies Sofie
- Denis Caroline
- Desbien Anthony L
- deVries Michele
- Dhupkar Pooja
- Diab Adi
- Diab Adi
- Diab Adi
- Diaz Luis
- DiCostanzo AriCeli
- Diede Scott J
- Dietz Allan B
- Dillhoff Mary
- Dillon Patrick
- Dilworth Ryan
- Dimberg Anna
- Ding Yueyun
- Doberstein Stephen K
- Dobkin Julie
- Doener Fatma
- Dolegowska Barbara
- Doleschall Zoltan
- Doman Thompson
- Dominguez George
- Donahue Renee
- Donahue Renee
- Dorsey Frank C
- Dovedi Simon
- Downs-Canner Stephanie
- Drake Charles
- Drake Charles G
- Drake Charles G
- Driessens Gregory
- Driscoll Kyla
- Druker Brian J
- Dubensky Thomas W
- Dubensky Thomas W
- Dudimah Duafalia
- Duff Susan
- Dumontet Charles
- Dunai Cordelia
- Dunai Cordelia
- Dutcher Janice P
- Duttagupta Priyanka
- Duvvuri Uma
- Dyson Mike
- D’Apuzzo Massimo
- Ebner Peggy
- Edwards Robert
- Edwards Robert P
- Edwards Robert P
- Eickhoff Jens
- Eisenhower Mary
- El Alaoui Meddy
- El Alaoui Said
- Eles Klara
- Ellies Lesley
- Elnaggar Omar
- Elvecrog James
- Emberley Ethan
- Emerling Daniel
- Eng Charis
- Engelhard Victor H
- English Jessie
- Enstrom Amanda
- Eremeev Artem
- Eriksson Emma
- Eriksson Emma
- Eriksson Emma
- Ertelt Kathleen
- Eswarappa Rajesh
- Evans Elizabeth
- Evans Kathy
- Facciabene Andrea
- Facciabene Andrea
- Facciabene Andrea
- Facciponte John
- Facciponte John
- Falchook Gerald
- Fantini Massimo
- Fantini Massimo
- Fantini Massimo
- Farkas Emil
- Farren Matthew
- Faustman Denise
- Fa’ak Faisal
- Fa’ak Faisal
- Femel Julia
- Feng JunLi
- Feng Yan
- Feng Zipei
- Feola Sara
- Fernandez Christian
- Fernando Ingrid
- Ferris Robert L
- Ferris Robert L
- Ferris Robert L
- Ferris Robert L
- Fesenkova Valentyna
- Field Jessica J
- Fisher Kerry
- Fisher Terry
- Fitzharris Bernie
- Flano Emilio
- Flechtner Jessica B
- Flies Dallas B
- Flynn Patrick
- Fogler William
- Fong Lawrence
- Formenti Silvia C
- Formenti Silvia C
- Foster Cathie
- Foster Rosemary
- Fotin-Mleczek Mariola
- Fox Bernard
- Francica Brian
- Francis Julie-Ann
- Frangou Costa
- Franklin Marilyn
- Franklin Wilbur
- Frascaro Federica
- Fraser Kathryn
- Frederix Kim
- Freimark Bruce
- Freimark Bruce
- Freimark Bruce
- Frey Alan
- Fridman Leticia
- Friedman Alan
- Friedman David
- Fromm George
- Früh Martin
- Fu Yang-Xin
- Fu Yichun
- Fu Yichun
- Fuertes Marraco Silvia A
- Fugle Caroline W
- Fuhrmann Steven
- Fukaya Satoshi
- Fulton Noreen
- Fuoco Claudia
- Fusciello Manlio
- Fuseri Nicolas
- Gabitzsch Elizabeth
- Gabrail Nashat
- Gabrilovich Dmitry
- Gajewski Thomas
- Gajewski Thomas F
- Gajewski Thomas F
- Gajewski Thomas F
- Gajewski Thomas F
- Gajewski Thomas F
- Gajewski Thomas F
- Galeassi Nadejda
- Gamble Alicia
- Gamble Alicia
- Gameiro Sofia
- Gameiro Sofia R
- Gandhi Anita
- Gao Chan
- Gardai Shyra J
- Gardner Kellie
- Gartrell Robyn
- Gartrell Robyn
- Gartrell Robyn
- Gasmi Billel
- Gastineau Dennis A
- Gaughan Elizabeth
- Gauthier Audrey
- Gauthier Kelsey S
- Geissler Michael
- Gergel Ivan
- Geukens Nick
- Gfeller David
- Ghadially Hormas
- Ghamsari Lila
- Ghandi Leena
- Ghisoli Maurizio
- Giaccia Amato
- Gibney Geoffrey
- Giffin Louise
- Gillies Stephen D
- Giri Sanjeev
- Gladstone Douglas
- Glickman Laura H
- Gnad-Vogt Ulrike
- Godwin John
- Gomes Bruno
- Gong Jian
- Gong Jian
- Gonzales Rodney J M
- Gooding William
- Gooding William
- Goodman Reid
- Gopal Ajay
- Gordon Keith
- Gordon Nancy
- Gottschalk Stephen
- Gough Michael
- Gowda Nagaraj
- Goyal Sharad
- Graff Jeremy
- Graham Charles
- Graves Edward
- Gray Michael
- Gray Michael
- Greasley Samantha
- Greenberg Norman
- Greiff Lennart
- Greiner John W
- Grenga Italia
- Grenga Italia
- Gressett Monica M
- Griesinger Frank
- Grigoryeva Olga
- Grigsby Iwen
- Grivas Petros
- Grogan Elizabeth W
- Grogan Jane
- Grose Mark
- Grose Mark
- Grose Mark
- Grosh William
- Gross Matt
- Gross Matt
- Grossenbacher Steven K
- Grossmann Kenneth
- Gruber Harry
- Gu Xuemin
- Guenther Garret
- Guerriero Jennifer
- Gugel Elena G
- Guiducci Cristina
- Guirado Elizabeth
- Gulley James L
- Gunatilaka Leslie A A
- Guo Jie
- Guo Zeng-qing
- Gupta Ravi
- Gupta Sachin
- Gupta Sumati
- Gustafson Michael P
- Gutierrez Andres A
- Guttridge Denis
- Guy Emily I
- Guzman Wilson
- Hagihara Katsunobu
- Hagner Patrick
- Hailemichael Yared
- Hailemichael Yared
- Haining W. N
- Hale Diane F
- Hall Gerald
- Hallmeyer Sigrun
- Hamdy Freddie
- Hammond Scott A
- Han Jian
- Han Yanyan
- Hank Jacquelyn A
- Hanks Brent A
- Hanson Bill
- Harari Paul M
- Harbell Michael
- Hardin Mark O
- Hardwick James
- Harrington Kevin
- Harris Jaryse
- Harris-Bookman Sarah
- Hart Philip
- Hasapidis Jeannette
- Hassan Raffit
- Havel Jonathan
- Havunen Riikka
- Havunen Riikka
- Hayashi Tomoko
- Haymaker Cara
- Haynes Heather
- Heinze Clinton
- Hellmann Matthew D
- Hellmann Matthew D
- Hellmann Matthew D
- Hellström Ann-Charlotte
- Helming Laura
- Hemmi Silvio
- Hemminki Akseli
- Hemminki Akseli
- Hemminki Otto
- Hendrickx Wouter
- Hendrickx Wouter
- Hendrickx Wouter
- Henrich Ian
- Heo Dae S
- Herbert Garth S
- Herbst Ronald
- Heron Dwight
- Herranz Mireia U
- Hess Kenneth R
- Heymach John
- Higuchi Tomoe
- Hilbe Wolfgang
- Hill Adrian
- Hill Andrew G
- Hill Jonathan A
- Hillringhaus Lars
- Hipp Madeleine
- Hirschhorhn-Cymerman Daniel
- Ho Po
- Hoch Ute
- Hoch Ute
- Hoch Ute
- Hodge James
- Hodge James
- Hodge James W
- Hodi F. S
- Hodi F. S
- Hodi F. S
- Hofmeister Robert
- Holland Pamela M
- Hollevoet Kevin
- Hollingsworth Robert E
- Hollingsworth Robert E
- Holmgaard Rikke
- Holtzhausen Alisha
- Honarmand Somayeh
- Hong Bang-Xing
- Hong David
- Hong Henoch S
- Hong Peter
- Horst Basil
- Horton Brendan
- Horvath Szabolcs
- Hotson Andrew
- Hou Jinlin
- Hou Xiaohong
- Hou Yafei
- Howell Alan
- Hu Yangyang
- Hu Yangyang
- Hu-Lieskovan Siwen
- Hua Hong
- Huang Fei
- Huang Jing
- Huang Shiang
- Huang Shiang
- Huang Tony
- Huang Yuanhiu
- Huang Yuanhiu
- Hudson Thomas E
- Huelsmann Erica
- Huffman Austin P
- Humeau Laurent
- Hunt Donald F
- Hunt Donald F
- Hurt Elaine
- Hurt Elaine
- Hurwitz Michael
- Hutchins Jeff
- Hutchins Jeff
- Hutchins Jeff
- Hwu Patrick
- Hwu Wen-Jen
- Hylander Bonnie
- Ibrahim Nageatte
- Illingworth Sam
- Infante Jeffrey
- Ioffe Ella
- Irmler Martin
- Irving Bryan A
- Irving Bryan A
- Izaki Daisuke
- Jablons David
- Jablonski Sandra
- Jackson Doreen O
- Jackson Natalie
- Jacobson Caron
- Jacques Judy
- Jaen Juan C
- Jaen Juan C
- Jahan Naznin
- Jahan Thierry
- Jaini Ritika
- Jaiswal Ashvin
- Jameson Michael B
- Jang Dadi
- Janku Filip
- Janne Pasi A
- Janssen Louise
- Jarblad-Leja Justyna
- Jeraj Robert
- Jessen Katti
- Jhawar Sachin
- Jhawar Sachin
- Jia Dan T
- Jin Ming
- Johnson Brian
- Johnson Bruce D
- Johnson Karen
- Johnson Melissa L
- Jolly Douglas
- Joly Nathalie
- Jonas Adria
- Jones Frank
- Jones Jeremy
- Jones Sian
- Joshi Bharat H
- Ju Xiaoming
- Kadenhe-Chiweshe Angela
- Kaiser Stephen
- Kalinski Pawel
- Kalinski Pawel
- Kalinski Pawel
- Kalinski Pawel
- Kallen Karl-Josef
- Kalos Michael
- Kane Lawrence P
- Kanerva Anna
- Kang Kai
- Kangas Takashi O
- Kanne David B
- Kantrowitz Joel
- Kapp Kerstin
- Kapralova Marina
- Kariolis Mihalis
- Karlsson-Parra Alex
- Karpathy Roberta
- Karpov Andrey
- Kasibhatla Shailaja
- Kasler Miklos
- Katibah George
- Katibah George
- Kaufman David R
- Kaufman Howard L
- Kaufman Howard L
- Kaufman Howard L
- Kaufman Howard L
- Kaufman Howard L
- Kaufman Howard L
- Kaufman Howard L
- Kauh John S
- Kavanaugh W. M
- Kavanaugh W. M
- Keam Bhumsuk
- Kern Jeffrey
- Khalil Danny N
- Khong Hiep
- Khong Hung
- Khuat Lam T
- Khuat Lam T
- Kibel Adam S
- Kidder Koby
- Kim Chul-Ho
- Kim Dong-Wan
- Kim Dongkyoon
- Kim Seulki
- Kim Seungwon
- Kim Soyeon
- Kim Tae M
- Kindler Hedy L
- Kindt Erick
- Kirk Peter
- Kirksey Yolanda
- Kitaura Kazutaka
- Kleinerman Eugenie S
- Kler Jasdeep
- Kline Justin
- Klinke David J
- Klinkhardt Ute
- Klippel Anke
- Kluger Harriet
- Knapp Alyssa
- Knudson Karin M
- Knudson Karin M
- Koch Sven D
- Kodumudi Krithika
- Kohanbash Gary
- Kohlhapp Frederick
- Kohlhapp Frederick
- Kolarkar Shalini
- Kollmeier Jens
- Komar Hannah
- Komar Hannah M
- Komarov Andrey
- Konakova Marina
- Koong Albert
- Korman Alan J
- Kornbluth Richard S
- Kortylewski Marcin
- Kortylewski Marcin
- Kosaka Yoko
- Kosoff Rachelle
- Kostarelos Kostas
- Koti Madhuri
- Kotlan Beatrix
- Koziol Marie E
- Kradjian Giorgio
- Krasovskaia Liudmila
- Kraus Manfred
- Kraynyak Kim
- Krejsa Cecile M
- Krishnan Monica
- Krishnan Suba
- Krisko John
- Kuai Rui
- Kumai Takumi
- Kumar Sushil
- Kumar Sushil
- Kumar Vikas
- Kumar Vikas
- Kung Andrew L
- Kunk Paul R
- Kuo Peiwen
- Kuppen Peter
- Kyruk Lukasz
- Laderas Ted
- Lai Venus
- Lake Andrew C
- Lamble Adam
- Lan Yan
- Lane Ryan
- Langowski John L
- Laport Ginna
- Lauer Peter
- Law Che-Leung
- Lazo Suzan
- Lazorchak Adam S
- Le Dung T
- Lee Dean
- Lee Jessica
- Lee Yu S
- Lehmann Paul
- Leidner Rom
- Leland Pamela
- Leleti Manmohan R
- Leleux Jardin
- Lemmens Edward E
- Lemmens Edward E
- Leonard John E
- Leonard John P
- Leonardo Steven
- Leong Justin L
- Leong Meredith L
- Leong Meredith L
- Lepone Lauren
- Lepone Lauren
- Leshem Jasmin
- Lesinski Gregory B
- Lesinski Gregory B
- Lesinski Gregory B
- Lessey-Morillon Elizabeth
- Letai Anthony
- Letellier Marie-Claire
- Levy Laurent
- Levy Ronald
- Lewis Whitney
- Li Jin
- Li Qiao
- Li Qiao
- Li Weiqun
- Li Wenlin
- Li Yanxia
- Li Yanyun
- Li Yanyun
- Li Zihai
- Liang Xiaoling
- Lieber Andre
- Lifke Alexander
- Lifke Valeria
- Lin Jing
- Lind Evan F
- Lindstedt Malin
- Lipson Evan
- Liszkay Gabriella
- Litton Jennifer
- Liu Bei
- Liu Biao
- Liu Cailian
- Liu Glenn
- Liu Hao
- Liu Hongtao
- Liu Linying
- Liu Matt
- Liu Shouchun
- Liu Shouchun
- Liu Shuming
- Liu Weiqun
- Liu Xiu-fen
- Liu Yuan
- Liu Zhuqing
- Liu Zhuqing
- Lo Kin-Ming
- Loibner Hans
- Long Georgina V
- Longo Dan
- Loriaux Marc
- Loskog Angelica
- Loskog Angelica
- Loskog Angelica
- Lossos Izidore S
- Lowe David
- Loya Matthew
- Lu Bo
- Lu Shanhong
- Lu Shanhong
- Lu Yan
- Lu Yan
- Lu Yan
- Ludwig Dale
- Ludwug Thomas
- Luke Jason
- Lum Lawrence G
- Lund Amanda W
- Lundberg Kristina
- Lykov Maxim
- López Fernando
- MacDonald Andrew
- MacDonald Cameron
- MacDonald Douglas
- Mace Thomas
- Mace Thomas
- Mace Thomas
- MacKinnon Andy
- MacKinnon Andy
- Maegley Karen
- Magee Michael S
- Magnani John L
- Makarov Vladimir
- Makhanov Michael
- Makhijani Neil
- Makkouk Amani
- Malaker Stacy A
- Malaker Stacy A
- Mallon Zach
- Mallow Crystal
- Malnassy Gregory
- Mandloi Nitin
- Mangin Eric
- Mangrolia Drishty
- Manguso Robert
- Manieri Nicholas
- Manning Luisa
- Manning-Bog Amy
- Manoharan Malini
- Manro Jason
- Mansfield David
- Marabelle Aurelien
- Marathi Upendra K
- Marelli Bo
- Marguier Gisele
- Marguier Gisele
- Maric Dragan
- Marillier Reece
- Marincola Francesco
- Marincola Franco M
- Marincola Franco M
- Market Robert V
- Marks Douglas
- Marron Thomas U
- Marshall Netonia
- Martin Allison
- Martins Beatriz
- Mason Sean
- Mastro Andrea
- Matsutani Takaji
- Mauceri Helena J
- Mauldin Ileana
- Maurer Matthew
- Mazzeo Christopher F
- McCafferty John
- McCaffery Ian
- McCarter Martin
- McCulley Kelsey
- McDaniel Amanda
- McDaniel Amanda
- McDaniel Amanda
- McDermott David F
- McDermott David F
- McIntosh Laura
- McKenna Jeffery M
- McNeel Douglas G
- McNeil Catriona
- McQuinn Christopher
- McWeeney Shannon
- McWhirter Sarah M
- Mediero Aranzazu
- Medina Daniel
- Meek Stephanie M
- Mehnert Janice
- Meier Roland
- Melcher Alan
- Melero Ignacio
- Melssen Marit
- Melssen Marit
- Mendoza Daniel
- Menk Ashley V
- Menk Ashley V
- Menk Ashley V
- Mennel Robert
- Mera Toshi
- Merghoub Taha
- Merghoub Taha
- Merghoub Taha
- Merghoub Taha
- Merghoub Taha
- Merrick Daniel
- Metchette Ken
- Metelli Alessandra
- Meyer Christina
- Meyers Michael L
- Milenova Ioanna
- Milenova Ioanna
- Millar David
- Miller Lance
- Miller Nichol
- Miller Peter
- Miller Richard
- Mitchell John
- Mitchell Leah
- Mitra Priyam
- Mittendorf Elizabeth A
- Moeckly Craig
- Mogundo Frances-Mary
- Mohan Aparna
- Mohr Ian
- Mohrs Markus
- Monjazeb Arta
- Moon James
- Moore Brandon
- Moore Kathleen M
- Moreira Dayson
- Morel Yannis
- Moreno Rafael
- Moreno Rafael
- Morillon Y. M
- Morris Zachary S
- Morrow Matthew
- Morse Jennifer
- Morse Michael
- Mudan Satvinder
- Mueller Sabine
- Muir Lincoln
- Mullinax John
- Mullins Stefanie
- Mulvey Matthew
- Mumm John
- Munday Anthony
- Muniz Luciana
- Munk Adiel
- Murphy Aimee L
- Murphy Aimee L
- Murphy William J
- Murphy William J
- Murray Brion
- Muthuswamy Ravi
- Muthuswamy Ravikumar
- Myers Paisley T
- Myers Paisley T
- Myers Paisley T
- Nagasaka Misako
- Nail Carmel
- Naing Aung
- Naing Aung
- Nair Nitya
- Nakamura Yusuke
- Nath Pulak R
- Nath Pulak R
- Ndubaku Chudi
- Nechaev Sergey
- Neelapu Sattva S
- Neelapu Sattva S
- Neely Jaclyn
- Nemunaitis John
- Neou Silinda
- Neubert Natalie J
- Neves Rogerio
- Newcomb Eric
- Newman Jenna
- Newman Jenna
- Ngo Lisa Y
- Nguyen Andrew
- Nguyen Ngan
- Niazi Kayvan
- Nicholas Courtney
- Nicolette Charles
- Nicolette Charles
- Nicolette Charles
- Niederfellner Gerhard
- Nielsen Michael
- Noessner Elfriede
- Normant Emmanuel
- Novosiadly Ruslan
- Nuccitelli Richard
- Nuccitelli Richard
- Nuccitelli Richard
- Nutakki Ravi
- Obalapur Palakshi
- Obeid Joseph M
- Obeid Joseph M
- Obermajer Nataša
- Obermajer Nataša
- Obermajer Nataša
- Obermajer Nataša
- Ochyl Lukasz
- Odunsi Kunle
- Oft Martin
- Ogasawara Masahiro
- Ohr James
- Okada Hideho
- Okada Hideho
- Okada Kaori
- Okeley Nicole M
- Okubo Yoshiaki
- Olasz Judit
- Olson Walter
- Olson William
- Opyrchal Mateusz
- Ordentlich Peter
- Ordentlich Peter
- Orecchioni Marco
- Ornatowski Wojciech
- Osada Toshihiro
- Ostrowski Michael C
- Oswald Detlef
- Ota Shuichi
- Ott Patrick A
- Ott Patrick A
- Ott Patrick A
- Ottoson Nadine
- Overwijk Willem W
- Overwijk Willem W
- Ovsepyan Armen
- Oyola Sandra
- O’Connor Rachel W
- Pachynski Russell K
- Pai Steven
- Pal Sumanta
- Palena Claudia
- Pall Georg
- Palmer Brent
- Palombella Vito J
- Pan Alison
- Pan Wenjing
- Pandha Hardev
- Paneque Tomas
- Paneque Tomas
- Pant Shubham
- Papachristofilou Alexandros
- Papadopoulos Kyriakos P
- Papot Sébastien
- Paramithiotis Eustache
- Paris Mark
- Paris Sébastien
- Park Ha-Ram
- Park Jae-Hyun
- Park Timothy
- Parlati Francesco
- Parlati Francesco
- Parsons Andrea J
- Parviainen Suvi
- Parviainen Suvi
- Pastan Ira
- Patel Manish
- Patel Shashank
- Paterson Alison M
- Patil Ashwini
- Patnaik Amita
- Patterson Troy D
- Paul Kiran
- Paul-Wetterberg Gabriella
- Paustian Christopher
- Peace Kaitlin M
- Pei Jerry
- Pellom Samuel
- Pellom Samuel
- Peltonen Karita
- Pena Rhoneil
- Penny Sarah A
- Penny Sarah A
- Penny Sarah A
- Peoples George E
- Perez Myra
- Perna Serena
- Perry Kyle
- Persaud Krishnadatt
- Pesonen Sari
- Pesonen Sari
- Peterson Nichole
- Petit Robert
- Petricoin Emanuel
- Petroni Gina
- Petroni Gina
- Petrylak Daniel P
- Pferdekamper Anne M
- Pierobon Mariaelena
- Pike Luke
- Pilon-Thomas Shari
- Pinczewski Joel
- Pirson Romain
- Plachco Ana
- Pless Miklos
- Pollack Ian F
- Pollock Emily
- Ponichtera Holly
- Ponte Jose
- Pope Hans
- Posner Marshall
- Postow Michael
- Pottier Agnes
- Poueymirou William
- Pourchet Aldo
- Pourdehnad Michael
- Pourzia Alexandra
- Powers Jay P
- Powers Jay P
- Pramoonjago Patcharin
- Prantner Andrew M
- Preillon Julie
- Presnell Scott
- Princiotta Michael
- Profusek Pam
- Puri Raj K
- Qi Jin
- Qian Yingzhi
- Qiao Guanxi
- Qiao Na
- Qin Guozhong
- Qiu Xiaohong
- Quach Phi
- Quick Laura
- Quinn David I
- Rabizadeh Shahrooz
- Rabolli Virginie
- Radfar Arash
- Radoja Sasa
- Radvanyi Laszlo
- Radvanyi Laszlo
- Rae Chris S
- Rafail Stavros
- Rafail Stavros
- Rafat Marjan
- Rahma Osama E
- Rajopadhye Milind
- Rakhmilevich Alexander L
- Ralph Christy
- Ramachandra Murali
- Ramachandra Raghuveer
- Ramalingam Suresh
- Ramchandren Radhakrishnan
- Ramos Kimberly
- Ranki Tuuli
- Ranki Tuuli
- Rankin Erinn
- Rao Tharak
- Rapisuwon Suthee
- Ravindranathan Roshni
- Ray Chad
- Rebhun Robert
- Redchenko Irina
- Reeves Rebecca S
- Reeves Rebecca S
- Reid-Schachter Gillian
- Reilley Matthew
- Reilly Christine
- Reiter Yoram
- Rekoske Brian
- Ren Xiubao
- Rennier Keith R
- Renrick Ariana N
- Repasky Elizabeth
- Reshef Ran
- Restifo Nicholas
- Ribas Antoni
- Ribas Antoni
- Richardson Jennifer H
- Richardson Jennifer H
- Ridnour Lisa
- Rimoldi Donata
- Rinchai Darawan
- Rivas Sarai
- Rizell Magnus
- Roberts David D
- Roberts David D
- Robinson William
- Rodriguez Anthony
- Rodriguez-Cruz Tania
- Roelands Jessica
- Roen Diana
- Rogers Connie J
- Rose Jason
- Ross Merrick
- Rothwell William T
- Rowlinson Scott
- Ruchko Sergey
- Ruth Nicola
- Ryan Kevin
- Saeed Abu Z
- Saenger Yvonne M
- Saenger Yvonne M
- Saenger Yvonne M
- Saims Dan
- Saito Takuro
- Salata Daria
- Salazar Rachel
- Saleh Rachidi
- Salerno Elise
- Samiulla Dodheri
- Sams Lillian
- Sanborn J. Z
- Sanborn Rachel E
- Sanborn Rachel E
- Santo Gregg E
- Santos João
- Santos Patricia M
- Sarnaik Amod A
- Sasaki Eiji
- Saser Kate A
- Sasikumar Pottayil
- Sathian Rekha
- Sato-Kaneko Fumi
- Saunthararajah Yogen
- Sausen Mark
- Savolt Akos
- Sawant Deepali
- Sayers Thomas J
- Sayers Thomas J
- Scales Stephanie
- Schad Sara
- Schaeffeler Elke
- Schaer David
- Scharping Nicole
- Scharping Nicole
- Scheel Birgit
- Schindler Ulrike
- Schindler Ulrike
- Schlom Jeffrey
- Schlom Jeffrey
- Schlom Jeffrey
- Schlom Jeffrey
- Schlunegger Kyle
- Schluns Kimberly S
- Schmidt Carl
- Schmidt Emmett
- Schmidt Manuel
- Schoenfeld Jonathan
- Schoenhals Jonathan
- Scholler Nathalie
- Scholz Alexander
- Schreiber Taylor H
- Schroeder Andreas
- Schwab Matthias
- Schwartz Anthony L
- Schwartz Anthony L
- Schwendeman Anna
- Scrivens Maria
- Sebastian Martin
- Sefrin Julian P
- Segal Neil H
- Seibel Tobias
- Senbabaoglu Yasin
- Senter Peter D
- Senzer Neil
- Serpa Gregory
- Setiady Yulius
- Sette Alessandro
- Sevdali Maria
- Sexton Holly
- Sexton Holly
- Seymour Len
- Sgarrella Francesco
- Shabanowitz Jeffrey
- Shabanowitz Jeffrey
- Shafren Darren
- Shafren Darren
- Shafren Darren
- Shakya Reena
- Shamalov Katerina
- Shanker Anil
- Shanker Anil
- Sharma Manish
- Sharma Meenu
- Sharma Naveen
- Sharma Padmanee
- Shayan Gulidanna
- Shea Sofia
- Shehade Hussein
- Sheikh Nadeem A
- Shekarian Tala
- Shepard Dale
- Sherry Lorcan
- Shi Feng
- Shi Jian
- Shih Vincent F
- Shimizu Atsushi
- Shrestha Yashaswi
- Shrivastav Shruti
- Shuman Stewart
- Shuster Alexandr
- Shwonek Peter
- Sidney John
- Siebenaler Kristen
- Silk Ann
- Silk Ann W
- Silva John
- Simmons John
- Simoes Ines
- Sims Jennifer S
- Singh Manisha
- Singson Victoria
- Singson Victoria
- Siurala Mikko
- Siurala Mikko
- Sivado Eva
- Sivan Ayelet
- Sjöberg Madeleine
- Skaletskaya Anna
- Skoble Justin
- Slansky Jill
- Slingluff Craig L
- Slingluff Craig L
- Slingluff Craig L
- Slingluff Craig L
- Slingluff Craig L
- Slomovitz Brian M
- Smith Ernest
- Smith Jill
- Smith Kelly
- Smith Kelly
- Smith Leia
- Smolkin Mark E
- Smolkin Mark E
- Smolkin Mark E
- Snook Adam E
- Snzol Mario
- Sokolove Jeremy
- Solowiej Jim
- Somanchi Srinivas
- Sondel Paul M
- Soneson Charlotte
- Song Xiao-Tong
- Sotayo Alaba
- Sotirovska Natalija
- Spada Filomena
- Speers Ellen
- Speiser Daniel E
- Spektor Alexander
- Spranger Stefani
- Spurgeon Stephen
- Squalls Olivia
- Srirangam Jay
- Srivastava Raghvendra
- Staab Mary J
- Stack Edward
- Staelens Ludovicus
- Starzynska Teresa
- Steadman Lora
- Steadman Lora
- Stefano Pierini
- Stefano Pierini
- Stefano Pierini
- Steggerda Susanne
- Stein Paul L
- Stelow Edward B
- Sternby Malin
- SternJohn Julius
- Stewart Al
- Stock Wendy
- Stone Geoffrey W
- Stosnach Claudia
- Straub Tobias
- Straus Jane
- Streiner Nicole
- Ståhle Magnus
- Su Yu-Lin
- Sudarshan Naremaddepalli
- Sugarbaker David
- Sukari Ammar
- Sultan Hussein
- Sun Shaoli
- Sundararaman Srividya
- Sung Leonard
- Suresh Rahul
- Surguladze David
- Suryawanshi Satyendra
- Suryawanshi Satyendra
- Suzuki Akiko
- Suzuki Ryuji
- Sweis Randy F
- Taback Bret
- Tagliaferri Mary
- Talbert Erin
- Tallarico John
- Tan Joanne B
- Tan Joanne B L
- Tan Wei
- Tan Yann C
- Tanaka Maki
- Tang Chad
- Tannir Nizar M
- Tannir Nizar M
- Taylor Allison
- Taylor Matthew
- Tcherepanova Irina
- ter Meulen Jan
- ter Meulen Jan
- Terabe Masaki
- Terabe Masaki
- Termini James
- Tetzlaff Michael
- Tewary Poonam
- Thakurta Anjan
- Thayer Matt
- Theodoraki Marie-Nicole
- Thimme Robert
- Thomas Portia
- Thomas Remy
- Thomas Vincent
- Thompson John A
- Thounaojam Menaka
- Thounaojam Menaka
- Thurston Gavin
- Tighe Rober
- Tilahun Ashenafi
- Tillé Laure
- Timmerman John
- Tipton Kimberly A
- Tipton Kimberly A
- Tognon Christina E
- Tomai Mark A
- Toms Anne
- Torno Sebold
- Torrey Heather
- Torti Vince
- Toth Laszlo
- Trager James B
- Trappey Alfred F
- Trivedi Sumita
- Truesdell Peter
- Tsang Kwong
- Tsang Kwong
- Tsang Kwong Y
- Tsaparikos Konstantinos
- Tsouko Efrosini
- Tsujikawa Takahiro
- Tsujikawa Takahiro
- Tsujikawa Takahiro
- Tuck David
- Tumang Joseph
- Tumang Joseph
- Turbitt William J
- Turk Andrew T
- Tyner Jeffery W
- Tähtinen Siri
- Tähtinen Siri
- Uecker Darrin
- Uecker Darrin
- Uecker Darrin
- Ugel Stefano
- Ugel Stefano
- Uhlik Mark
- Ujhelyi Mihaly
- Ullenhag Gustav
- Unfricht Darryn
- Ungerleider Richard
- Urban Julie
- Urban Julie
- Valsesia-Wittmann Sandrine
- Valsesia-Wittmann Sandrine
- Van der Meijs Pien
- van Vugt Marianne
- van Zutphen Mariëlle
- Vanamee Eva
- Vanderslice Peter
- VanderVeen Laurie
- Vanpouille-Box Claire I
- VanVlasselaer Peter
- Varhegyi Nikole
- Vasilakos John P
- Vaske Charles
- Vassilev Lotta
- Velcheti Vamsidhar
- Velculescu Victor
- Verma Amita
- Verma Amita
- Vetto John
- Vianden Christina
- Vietsch Eveline E
- Vignali Dario
- Vignali Dario
- Vogel Katharina
- Volkmuth Wayne
- Volz Barbara
- vonEbyen Rie
- Vreeland Timothy J
- Vu Tuyen
- Wada Hiroshi
- Wagtmann Nicolai
- Waldman Michelle
- Waldman Scott A
- Waller John
- Wallraven Gladice
- Walsh Richard
- Walters Ian B
- Wang Ena
- Wang Ena
- Wang Hongjie
- Wang Ping
- Wang Shangzi
- Wang Weiyi
- Wang Ximi K
- Wang Yi
- Wang Ziming
- Ward Stephen T
- Waugh Katherine
- Weber Amy
- Wehler Thomas
- Wei Spencer
- Weichselbaum Ralph R
- Weiner David
- Weiner Louis M
- Weinstein Gregory
- Weiss Christian
- Welden Scott
- Wellstein Anton
- Welsh James
- Wennerberg Erik
- Wenthe Jessica
- Wenthe Jessica
- Werner Lauryn R
- West Brian
- West James
- West James
- Wheatley Courtney
- Whetstone Ryan
- Whetstone Ryan
- White James
- White-Stern Ashley
- Whiteside Melinda
- Whiting Chan C
- Whiting Chan C
- Wicha Max S
- Wicha Max S
- Wieckowski Eva
- Wijeratne Kithsiri
- Wilhite Tyler
- Wilkinson Robert W
- Wilkinson Robert W
- Williams Matthew
- Williamson Kevin
- Willingham Stephen
- Wilson James M
- Wilson Nicholas
- Winters Kevin
- Withers Sita
- Wittig Burghardt
- Wolchok Jedd D
- Wolchok Jedd D
- Wolchok Jedd D
- Wolchok Jedd D
- Wolchok Jedd D
- Wolfreys Alison
- Won Haejung
- Wong Chihunt
- Wong Chihunt
- Wong Deborah J
- Wong Gabriel
- Wong Kenneth R
- Wong Kenneth R
- Wong Michael K
- Wood Laura
- Woodside Darren G
- Workman Creg
- Wu Bill X
- Wu Dongyun
- Wu Jennifer
- Wu Yeting
- Wyant Timothy
- Wythes Martin
- Xi Biao
- Xia Leiming
- Xia Yang
- Xia Yang
- Xiang Bo
- Xiao Christine
- Xiao Hong
- Xiao Zhilan
- Xu Chun-wei
- Xu Chunxiao
- Xu Guifen
- Xu Xiaomei
- Xu Xin
- Xu Ya-Ming
- Xu Yitong
- Yadav Mahesh
- Yagiz Kader
- Yamashiro Darrell J
- Yan Jian
- Yang Chou
- Yang Ning
- Yang Zane
- Yano Hiroshi
- Yao Shiyin
- Ye Yun-bin
- Yin Catherine
- Ylösmäki Erkko
- Ylösmäki Erkko
- Young Gregory
- Young Gregory
- Young Kristina
- Young Rob
- Young Steve W
- Young Steve W
- Youssoufian Hagop
- Yu Huakui
- Yu Ling
- Yu Naichen
- Zafar Sadia
- Zalevsky Jonathan
- Zalevsky Jonathan
- Zalevsky Jonathan
- Zalevsky Jonathan
- Zappasodi Roberta
- Zappasodi Roberta
- Zauderer Maurice
- Zeh Herbert
- Zelenetz Andrew D
- Zeng Weiping
- Zeng Xue
- Zha Yuanyuan
- Zhang Danhui
- Zhang Jing
- Zhang Ping
- Zhang Qifang
- Zhang Shannon S
- Zhang Theresa
- Zhang Winter
- Zhang Yanping
- Zhao Fei
- Zhao Leyna
- Zhao Xingli
- Zheng Lianxing
- Zheng Wenxin
- Zheng Xianxian
- Zheng Yi
- Zhong Hong
- Zhou Li
- Zhou Xiangjun
- Zippelius Alfred
- Zloza Andrew
- Zloza Andrew
- Zloza Andrew
- Zloza Andrew
- Zloza Andrew
- Zou Jun
- Zuba-Surma Ewa
- Zubkova Olga
- Zureikat Amer
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2016
- Field of study
Background
The immunological escape of tumors represents one of the main ob- stacles to the treatment of malignancies. The blockade of PD-1 or CTLA-4 receptors represented a milestone in the history of immunotherapy. However, immune checkpoint inhibitors seem to be effective in specific cohorts of patients. It has been proposed that their efficacy relies on the presence of an immunological response. Thus, we hypothesized that disruption of the PD-L1/PD-1 axis would synergize with our oncolytic vaccine platform PeptiCRAd.
Methods
We used murine B16OVA in vivo tumor models and flow cytometry analysis to investigate the immunological background.
Results
First, we found that high-burden B16OVA tumors were refractory to combination immunotherapy. However, with a more aggressive schedule, tumors with a lower burden were more susceptible to the combination of PeptiCRAd and PD-L1 blockade. The therapy signifi- cantly increased the median survival of mice (Fig. 7). Interestingly, the reduced growth of contralaterally injected B16F10 cells sug- gested the presence of a long lasting immunological memory also against non-targeted antigens. Concerning the functional state of tumor infiltrating lymphocytes (TILs), we found that all the immune therapies would enhance the percentage of activated (PD-1pos TIM- 3neg) T lymphocytes and reduce the amount of exhausted (PD-1pos TIM-3pos) cells compared to placebo. As expected, we found that PeptiCRAd monotherapy could increase the number of antigen spe- cific CD8+ T cells compared to other treatments. However, only the combination with PD-L1 blockade could significantly increase the ra- tio between activated and exhausted pentamer positive cells (p= 0.0058), suggesting that by disrupting the PD-1/PD-L1 axis we could decrease the amount of dysfunctional antigen specific T cells. We ob- served that the anatomical location deeply influenced the state of CD4+ and CD8+ T lymphocytes. In fact, TIM-3 expression was in- creased by 2 fold on TILs compared to splenic and lymphoid T cells. In the CD8+ compartment, the expression of PD-1 on the surface seemed to be restricted to the tumor micro-environment, while CD4 + T cells had a high expression of PD-1 also in lymphoid organs. Interestingly, we found that the levels of PD-1 were significantly higher on CD8+ T cells than on CD4+ T cells into the tumor micro- environment (p < 0.0001).
Conclusions
In conclusion, we demonstrated that the efficacy of immune check- point inhibitors might be strongly enhanced by their combination with cancer vaccines. PeptiCRAd was able to increase the number of antigen-specific T cells and PD-L1 blockade prevented their exhaus- tion, resulting in long-lasting immunological memory and increased median survival
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Bailey Matthew H
- Barbara Hutter
- Barbara Hutter
- Barbara Kremeyer
- Bartha M Knoppers
- Beifang Niu
- Beifang Niu
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
- Benjamin J Raphael
- Benjamin P Berman
- Benjamin Raeder
- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
- Bin Zhu
- Birgit Burkhardt
- Bishoy M Faltas
- Bodil Bjerkehagen
- Bogdan Czerniak
- Boris Winterhoff
- Borislav C Rusev
- Bradly G Wouters
- Brandi N Davis-Dusenbery
- Brian Craft
- Brian D O'Connor
- Brian Patrick O'Neill
- Brice Aminou
- Calvin Wing Yiu Chan
- Cameron M Soulette
- Carl Herrmann
- Carl Morrison
- Carlo Gambacorti-Passerini
- Carlos Caldas
- Carlos D Bustamante
- Carlos López-Otín
- Carlota Rubio-Perez
- Carmen Gomez
- Carolien H M van Deurzen
- Carolyn M Hutter
- Carolyn M Hutter
- Carrie Cibulskis
- Caterina Vicentini
- Catherine A Shang
- Catherine D Moser
- Catherine J Kennedy
- Catrina C Fronick
- Chad J Creighton
- Chandra Sekhar Pedamallu
- Chang Li
- Charles David Imbusch
- Charles M Perou
- Charles Saller
- Charles Short
- Charlie E Massie
- Chawalit Pairojkul
- Chen Hong
- Chen Ye
- Cheng-Zhong Zhang
- Chin-Lee Wu
- Chip Stewart
- Chip Stewart
- Chip Stewart
- Choon Kiat Ong
- Chris Lawerenz
- Chris Mitchell
- Chris Sander
- Christian von Mering
- Christiane Buchholz
- Christina K Yung
- Christina K Yung
- Christina Yau
- Christine A Iacobuzio-Donahue
- Christine Chomienne
- Christine Desmedt
- Christine P'ng
- Christof von Kalle
- Christoph Borst
- Christoph Plass
- Christopher A Miller
- Christopher Benz
- Christopher J Scarlett
- Christopher J Yoon
- Christopher K Wong
- Christopher M Lalansingh
- Christopher M Lalansingh
- Christopher Ogden
- Christopher S Foster
- Christopher Umbricht
- Christopher W Toon
- Christos Sotiriou
- Cindy Bell
- Cinzia Cantù
- Ciyue Shen
- Claes Wadelius
- Clare Verrill
- Clarissa Gerhauser
- Claudia Calabrese
- Claudio Bassi
- Claudio Luchini
- Claudiu Farcas
- Clemency Jolly
- Colin A Purdie
- Colin A Semple
- Colin C Collins
- Colin S Cooper
- Conrad R Leonard
- Constance H Li
- Corbin D Jones
- Craig Shriver
- Cristina López
- Cyriac Kandoth
- Cyril Fisher
- D Neil Hayes
- Dai-Ying Wu
- Daiming Fan
- Daisuke Komura
- Dale W Garsed
- Daniel A Leongamornlert
- Daniel Baumhoer
- Daniel Hübschmann
- Daniel J Turner
- Daniel J Weisenberger
- Daniel M Berney
- Daniel Rosebrock
- Daniel S Brewer
- Daniela S Gerhard
- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
- Darrin F Taylor
- Dave Larson
- David A Wheeler
- David A Wheeler
- David C Wedge
- David Craft
- David D L Bowtell
- David E Neal
- David Haan
- David Haussler
- David Haussler
- David Hedley
- David Huntsman
- David I Heiman
- David J Adams
- David J Van Den Berg
- David K Chang
- David K Miller
- David Khoo
- David Mutch
- David N Louis
- David Nicol
- David Ocana
- David R Jones
- David R Jones
- David Scott
- David T Bowen
- David T W Jones
- David Tamborero
- David Torrents
- David Torrents
- David Townend
- David Vicente
- Davide Antonello
- Declan Cahill
- Denis Larsimont
- Denis Yuen
- Denise Brooks
- Deniz Demircioğlu
- Dennis C Sgroi
- Dennis Karsch
- Dennis T Maglinte
- Dennis Wigle
- Derek W Wright
- Dianne E Chadwick
- Dido Lenze
- Dieter Kube
- Dieter Weichenhan
- Dilip D Giri
- Dimitri Livitz
- Dimitri Livitz
- Dimple Chakravarty
- Ding
- Dirk Schadendorf
- Dmitry A Gordenin
- Dominik Glodzik
- Don Chalmers
- Dong Guanlan
- Dongbing Liu
- Donghoon Lee
- Donghui Tan
- Donna M Muzny
- Dorthe Grabau
- Douglas A Levine
- Douglas F Easton
- Douglas Voet
- Duncan Beardsmore
- Dursi Lewis Jonathan
- Edward W Rowe
- Eigo Shimizu
- Ekta Khurana
- Elaine R Mardis
- Electron Kebebew
- Elena Piñeiro-Yáñez
- Elena Provenzano
- Elias Campo
- Elisabet Barrera
- Elisabetta Sereni
- Elizabeth A Musgrove
- Elizabeth L Appelbaum
- Elizabeth L Christie
- Elli Papaemmanuil
- Ellrott Kyle
- Emilie Lalonde
- Eoghan Harrington
- Eric Chuah
- Eric Green
- Eric Lander
- Eric Minwei Liu
- Eric Z Ma
- Eric Z Ma
- Erik Garrison
- Erik Larsson
- Erik Mayer
- Erik N Bergstrom
- Erin Curley
- Ermin Hodzic
- Erwin G Van Meir
- Esa Pitkänen
- Esther Rheinbay
- Esther Rheinbay
- Eun Pyo Hong
- Eunjung Alice Lee
- Eva G Alvarez
- Eva Hellstrom-Lindberg
- Ewan Birney
- F Germán Rodríguez-González
- Fabien C Lamaze
- Fabien Calvo
- Fabio C P Navarro
- Faiyaz Notta
- Fan Yang
- Fan Zhang
- Faraz Hach
- Faraz Hach
- Faridah Mbabaali
- Fatima Al-Shahrour
- Federico Abascal
- Fei-Fei Liu
- Felicity Newell
- Fenglin Liu
- Fernanda Amary
- Ferran Muiños
- Florian Markowetz
- Fouad Yousif
- Francesc Muyas
- Francesco Favero
- Francisco M De La Vega
- Francisco Sanchez-Vega
- Fraser R Duthie
- Fred Sweep
- Freddie C Hamdy
- Fruzsina Molnár-Gábor
- Fumie Hosoda
- G Petur Nielsen
- G Steven Bova
- Gad Getz
- Gad Getz
- Gad Getz
- Gaetan MacGrogan
- Gaetano Finocchiaro
- Gary D Bader
- Gavin Ha
- Gavin W Wilson
- Genta Nagae
- Geoff Macintyre
- George B Hanna
- George L Mihaiescu
- Georgia Escaramis
- Georgina V Long
- Gerd Nettekoven
- German M Demidov
- German Ott
- Gerrit K Hooijer
- Gerstein Mark B
- Gert G Van den Eynden
- Getz Gad
- Ghislaine Scelo
- Giada Bonizzato
- Giampaolo Tortora
- Gilles Romieu
- Gilles Thomas
- Giovanni Marchegiani
- Gisela Mir Arnau
- Giuseppe Malleo
- Gloria M Petersen
- Gordon B Mills
- Gordon B Mills
- Gordon Saksena
- Gordon Saksena
- Gordon Saksena
- Grace Tiao
- Grace Tiao
- Graham J Mann
- Grant Sanders
- Gu Kong
- Guanming Wu
- Guido Reifenberger
- Guido Sauter
- Guillaume Bourque
- Gulietta M Pupo
- Gun Ho Jang
- Gunes Gundem
- Gunnar Rätsch
- Gurnit Atwal
- Hailei Zhang
- Haiyan Irene Li
- Han Liang
- Hana Susak
- Hans Binder
- Hans Lehrach
- Hans-Jörg Warnatz
- Hardeep K Nahal-Bose
- Hark Kyun Kim
- HarshaVardhan Doddapaneni
- Hartmut Juhl
- Harvey Pass
- Hayley C Whitaker
- Hayley J Luxton
- Hazel Burke
- Heather K Schmidt
- Heather Thorne
- Hee Jin Lee
- Heidi J Sofia
- Heidi Sofia
- Helen Davies
- Helena Kilpinen
- Helene Kretzmer
- Heng Xiong
- Henk G Stunnenberg
- Henrik Hornshøj
- Henry Lee-Six
- Hideki Ohdan
- Hidenori Ojima
- Hidewaki Nakagawa
- Hikmat Al-Ahmadie
- Hilda A Pickett
- Hirofumi Rokutan
- Hirokazu Taniguchi
- Hiroki Yamaue
- Hiroko Tanaka
- Hiromi Nakamura
- Hiroshi Aikata
- Hiroto Katoh
- Hiroyuki Aburatani
- Hitoshi Katai
- Hitoshi Nakagama
- Hojabr Kakavand
- Holger Sültmann
- Holmfridur Hilmarsdottir
- Hong Su
- Hong Xue
- Hong Xue
- Hongtu Zhu
- Hongwei Zhang
- Hongxin Zhang
- Hsiao-Wei Chen
- Huanming Yang
- Hugh Barr
- Hui Shen
- Husen M Umer
- Huy Q Dinh
- Hyung-Lae Kim
- Hyung-Lae Kim
- Hyung-Yong Kim
- Hyunghwan Kim
- Ian J Davis
- Ian Welch
- Ignacio Vázquez-García
- Ignaty Leshchiner
- Ignaty Leshchiner
- Ignaty Leshchiner
- Iker Reyes-Salazar
- Ilinca Lungu
- Ilse Rooman
- Ilya Shmulevich
- Iman Sarrafi
- Iman Sarrafi
- Ina Felau
- Ioana Cutcutache
- Irene Papatheodorou
- Irinel Popescu
- Iris Pauporté
- Iris Selander
- Isabelle Treilleux
- Isidro Cortés-Ciriano
- Ivan Borozan
- Ivana Cataldo
- Ivica Letunic
- Ivica Letunic
- Ivo Buchhalter
- Ivo Buchhalter
- Ivo G Gut
- Ivo G Gut
- Ivon Harliwong
- Izar Villasante
- Iñigo Martincorena
- J Lynn Fink
- J Robert O'Neill
- J Todd Auman
- Jaclyn Smith
- Jacqueline Boultwood
- Jacqueline E Schein
- Jaegil Kim
- Jake June-Koo Lee
- Jakob Skou Pedersen
- Jakob Skou Pedersen
- James E Haber
- James G Kench
- James Gossage
- James S Wilmott
- Jan Komorowski
- Jan O Korbel
- Janae V Simons
- Jane E Brock
- Janet S Graham
- Janet S Rader
- Jared T Simpson
- Jared T Simpson
- Jason Huse
- Jaswinder S Samra
- Javier Bartolome
- Javier Bartolomé Rodriguez
- Javier Temes
- Jean C Zenklusen
- Jean Y Yang
- Jean-Rémi Trotta
- Jeffrey A Wintersinger
- Jeffrey Boyd
- Jeffrey E Gershenwald
- Jeffrey Marks
- Jeffrey Roach
- Jenna Eagles
- Jennifer L Jennings
- Jeong-Yeon Lee
- Jeremiah A Wala
- Jeremiah A Wala
- Jeremy Chien
- Jeremy Johns
- Jerome Myers
- Jesper Lagergren
- Jessica I Hoell
- Jessica K Miller
- Ji Wan Park
- Jia Liu
- Jian Wang
- Jianhong Hu
- Jianjiong Gao
- Jianmin Wu
- Jiashan Zhang
- Jiayin Wang
- Jiayin Wang
- Jieming Chen
- Jihoon Kim
- Jill Barnholtz-Sloan
- Jillian A Hung
- Jing Zhang
- Jingchun Zhu
- Joachim Weischenfeldt
- Joachim Weischenfeldt
- Joan Frigola
- Joana Carlevaro-Fita
- Jocelyne Jacquemier
- Joel S Parker
- Johan Staaf
- Johann S De Bono
- Johanna Bertl
- Johannes Werner
- Johannes Werner
- John A Demchok
- John A Foekens
- John Bartlett
- John Busanovich
- John D McPherson
- John F Thompson
- John Letaw
- John N Weinstein
- John N Weinstein
- John R McPherson
- John V Pearson
- John W M Martens
- Jon G Jonasson
- Jon W Teague
- Jon W Teague
- Jonas Demeulemeester
- Jonathan Barenboim
- Jonathan Cebon
- Jonathan D Kay
- Jonathan Göke
- Jonathan Hinton
- Jonathan Hinton
- Jonathan Nicholson
- Jonathan R Stretch
- Jonathan Spring
- Jonathan Warrell
- Jong K Kim
- Jongsun Jung
- Jongsun Jung
- Jongwhi H Hong
- Joong-Won Park
- Jordi Deu-Pons
- Jorge Reis-Filho
- Jorge Zamora
- Jorunn E Eyfjord
- Jos Jonkers
- Jose I Martin-Subero
- Jose M C Tubio
- Jose M G Izarzugaza
- Josep L L Gelpi
- Josep L L Gelpi
- Joshua Armenia
- Joshua M Stuart
- Joshua M Stuart
- Joshy George
- José María Heredia-Genestar
- Joy C Jayaseelan
- Juergen Eils
- Juhee Lee
- Jules N A Kerssemakers
- Julia Markowski
- Julia Richter
- Julian M Hess
- Julian M Hess
- Julian M Hess
- Juliann Shih
- Julie Livingstone
- Julie M Wilson
- Jun Li
- Jun Yu
- Jung Kyoon Choi
- Junjun Zhang
- Junjun Zhang
- Juok Cho
- Juris Viksna
- Justin P Whalley
- Jyoti Nangalia
- Jörg Tost
- Jüri Reimand
- K Vijay Raghavan
- Kadir C Akdemir
- Kai Ye
- Kai Ye
- Kai Ye
- Kaixian Yu
- Kami Chiotti
- Kamna Ramakrishnan
- Kaoru Nakano
- Karen McCune
- Karen Mungall
- Karen Smith-McCune
- Karin A Oien
- Karin S Kassahn
- Karine Jegalian
- Karolina Czajka
- Karsten Rippe
- Katalin Karaszi
- Katarzyna O Sikora
- Katayoon Kasaian
- Katayoon Kasaian
- Katherine A Hoadley
- Kathleen H Burns
- Kathleen Marchal
- Kathryn Alsop
- Katia Nones
- Kazuaki Chayama
- Kazuhiro Maejima
- Kazuhiro Ohi
- Ke Yuan
- Keiran M Raine
- Keiran M Raine
- Keith A Boroevich
- Kelso Sean
- Ken Chen
- Ken Chen
- Ken Dutton-Regester
- Kenji Tatsuno
- Kenneth Aldape
- Keren Isaev
- Kerstin Haase
- Keun Soo Ahn
- Keunchil Park
- Kevin J Dawson
- Kevin Thai
- Kiejung Park
- Kin Chan
- Kiran Kumar
- Kirsten Kübler
- Kiyo Shimizu
- Kjong-Van Lehmann
- Klev Diamanti
- Koji Arihiro
- Koo Jeong Kang
- Kortine Kleinheinz
- Kortine Kleinheinz
- Kristian Cibulskis
- Kuan-Lin Huang
- Kui Wu
- Kunihito Gotoh
- Kwun M Fong
- Kyle Covington
- Kyle Covington
- Kyle Ellrott
- Kyle Ellrott
- Kyle Ellrott
- L Van't Veer
- Lara Jerman
- Lara Urban
- Lars Feuerbach
- Larsson Omberg
- Laura Planko
- Laurence B Lovat
- Laurent Arnould
- Lauri A Aaltonen
- Lawrence E Heisler
- Layla Oesper
- Lee E Timms
- Lei Song
- Leigh B Thorne
- Leng Han
- Leonidas Salichos
- Leslie Cope
- Leszek J Klimczak
- Levi Garraway
- Lewis Jonathan Dursi
- Lewis Jonathan Dursi
- Lewis R Roberts
- Li Ding
- Li Ding
- Li Ding
- Li Shantao
- Liang Wen-Wei
- Liangtao Zheng
- Lieven P C Verbeke
- Lihua Zou
- Liis Uusküla-Reimand
- Liliana Greger
- Liming Yang
- Lin Li
- Lina Sieverling
- Lina Wadi
- Lincoln D Stein
- Linda Mileshkin
- Linghua Wang
- LiRehan Akbani
- Lisa Lype
- Lisa Mirabello
- Lisle E Mose
- Liu Xi
- Liu Xi
- Lixing Yang
- Lora Lewis
- Lorenz H P Trümper
- Loretta M S Lau
- Lori Boice
- Loris Mularoni
- Lorraine A Chantrill
- Louis Letourneau
- Luc Dirix
- Luca Landoni
- Luca Malcovati
- Lucas Lochovsky
- Lucila Ohno-Machado
- Lucinda A Fulton
- Lucy Matthews
- Lucy Stebbings
- Lucy Stebbings
- Lucy Yates
- Ludmil B Alexandrov
- Ludmila Danilova
- Luisa Mantovani-Löffler
- Luke Marsden
- Maciej Wiznerowicz
- Malcolm Brock
- Malcolm J Moore
- Malene Juul
- Malik Alawi
- Mamoru Kato
- Manasa Ramakrishna
- Manaswi Gupta
- Manolis Kellis
- Manuel Prinz
- Mara Rosenberg
- Marat D Kazanov
- Marc D Perry
- Marc D Perry
- Marc J van de Vijver
- Marc Zapatka
- Marcel Kool
- Marcel Smid
- Marcin Imielinski
- Marco A Marra
- Marco Miotto
- Marcus Bosenberg
- Marek Cmero
- Maria Elisabeth Goebler
- Maria Keays
- Maria O'Donovan
- Maria Scardoni
- Maria Vittoria Davi
- Marie-Laure Yaspo
- Marina Pajic
- Mario Berrios
- Mario Cazzola
- Marius Rohde
- Mark A Rubin
- Mark B Gerstein
- Mark B Gerstein
- Mark H Wright
- Mark Lathrop
- Mark P Hamilton
- Mark Phillips
- Mark Pinese
- Mark Shackleton
- Markus B Schilhabel
- Markus Kreuz
- Markus Loeffler
- Markus Ringnér
- Marta Aymerich
- Marta Gut
- Marta Paczkowska
- Marta Tojo
- Martin Hansmann
- Martin L Ferguson
- Martin Peifer
- Mary J Goldman
- Masakazu Yamamoto
- Masaki Ueno
- Masashi Fujita
- Masashi Fukayama
- Matteo Fassan
- Matthew A Field
- Matthew A Reyna
- Matthew D Wilkerson
- Matthew Eldridge
- Matthew G Cordes
- Matthew G Soloway
- Matthew H Bailey
- Matthew H Bailey
- Matthew H Bailey
- Matthew J Anderson
- Matthew Meyerson
- Matthew R Huska
- Matthew Ringel
- Matthew W Fittall
- Matthias Bieg
- Matthias Bieg
- Matthias Schlesner
- Matthias Schlesner
- Mattia Bosio
- Maxime Tarabichi
- Maximillian G Marin
- Mayuko Furuta
- Mei Huang
- Melpomeni Kasapi
- Meyerson William U
- Mi Ni Huang
- Mia Nastic
- Michael A Hollingsworth
- Michael Birrer
- Michael C Heinold
- Michael C Heinold
- Michael C Quinn
- Michael C Wendl
- Michael C Wendl
- Michael D McLellan
- Michael D McLellan
- Michael D McLellan
- Michael Dunn
- Michael Fraser
- Michael H A Roehrl
- Michael Hummel
- Michael Ittmann
- Michael Kneba
- Michael Koscher
- Michael Mayo
- Michael R Stratton
- Michael S Lawrence
- Michael S Noble
- Michele Milella
- Michele Simbolo
- Michelle Chan-Seng-Yue
- Michelle Sam
- Michelle T Dow
- Miguel Betancourt
- Miguel Vazquez
- Mihoko Saito-Adachi
- Milana Frenkel-Morgenstern
- Milena Kovacevic
- Ming Ta Michael Lee
- Ming Tsao
- Miranda D Stobbe
- Miranda D Stobbe
- Miriam R Aure
- Miruna Balasundaram
- Mitsuhiro Komura
- Mohamed Helmy
- Mohammed Ghori
- Moiz S Bootwalla
- Monika Szczepanowski
- Monique Albert
- Montserrat Puiggròs
- Montserrat Puiggròs
- Morgan L Taschuk
- Moritz Gerstung
- Morten Muhlig Nielsen
- Morten Muhlig Nielsen
- Murat Iskar
- Myron Peto
- Myron Peto
- Nadia Traficante
- Nagarajan Paramasivam
- Nagarajan Paramasivam
- Naoki Miyoshi
- Naomi Livni
- Naoto T Ueno
- Narong Khuntikeo
- Nasa Sinnott-Armstrong
- Nasra H Giama
- Natalie Jäger
- Natalie Jäger
- Natalie R Davidson
- Natalie S Fox
- Natalie Saini
- Nathan A Pennell
- Natsuko Hama
- Naveen Vasudev
- Nebojsa Tijanic
- Neesha C Dhani
- Neil D Merrett
- Neil E Fleshner
- Nening M Dennis
- Niall J Byrne
- Nic Jones
- Nicholas D Socci
- Nicholas J Haradhvala
- Nicholas K Hayward
- Nicholas Petrelli
- Nicholas van As
- Nick M Waddell
- Nicola D Roberts
- Nicola Grehan
- Nicola Sperandio
- Nicola Waddell
- Nicole Cloonan
- Nidhan K Biswas
- Niedzica Camacho
- Nigel B Jamieson
- Nikita Desai
- Nikolajs Zeps
- Nikolaus Schultz
- Nikos Sidiropoulos
- Nilanjan Chatterjee
- Nilgun Donmez
- Nils Gehlenborg
- Nimish C Shah
- Nina Habermann
- Nina Thiessen
- Nischalan Pillay
- Nishant Agrawal
- Nobuyoshi Hiraoka
- Nodirjon Fayzullaev
- Noreen Dhalla
- Nuno A Fonseca
- Ofer Shapira
- Ola Myklebost
- Ole Ammerpohl
- Ole Christian Lingjærde
- Olga Potapova
- Olga Tucker
- Olga Zaikova
- Oliver Drechsel
- Oliver Drechsel
- Oliver F Bathe
- Oliver Hofmann
- Oliver Holmes
- Oliver Spiro
- Oliver Stegle
- Olivier Delaneau
- Olivier Harismendy
- Oriol Pich
- P Andrew Futreal
- Pablo Landgraf
- Paolo Pederzoli
- Pardeep Kumar
- Paresh Vyas
- Partha P Majumder
- Patrick D McGillivray
- Patrick Tan
- Patrick Tarpey
- Paul A Edwards
- Paul A Northcott
- Paul Brennan
- Paul C Boutros
- Paul C Boutros
- Paul Flicek
- Paul M Waring
- Paul N Span
- Paul T Spellman
- Paul Weinberger
- Pavana Anur
- Pavana Anur
- Payal Sipahimalani
- Paz Polak
- Pei Lin
- Pelvender Gill
- Petar Radovic
- Peter A Johansson
- Peter Clapham
- Peter F Stadler
- Peter Hersey
- Peter J Bailey
- Peter J Campbell
- Peter J Park
- Peter Lichter
- Peter Möller
- Peter O'Donnell
- Peter Staib
- Peter T Simpson
- Peter Van Loo
- Peter Vermeulen
- Peter W Laird
- Philip Awadalla
- Philip C Rosenstiel
- Phillip H Lai
- Ping Shang
- Piotr A Mieczkowski
- Prashant Bavi
- Pratiti Bandopadhayay
- Priyanka Dhingra
- Prue A Cowin
- Qi Wang
- Qian Xiang
- Qiang Pan-Hammarström
- Qianyun Guo
- Qinying Xu
- Quaid D Morris
- R Houston Thompson
- R Jay Mashl
- R Jay Mashl
- Rabea Wagener
- Radhakrishnan Sabarinathan
- Raja Seethala
- Rajiv Dhir
- Rajiv Sarin
- Ralf Küppers
- Ralph H Hruban
- Ralph Scully
- Ramaswamy Govindan
- Rameen Beroukhim
- Randi Istrup Juul
- Raquel Rabionet
- Raunak Shrestha
- Ravikiran Vedururu
- Reanne Bowlby
- Rebecca A Dagg
- Rebecca C Fitzgerald
- Rebecca Carlsen
- Rebecca Shepherd
- Rehan Akbani
- Reiner Siebert
- Ren X Sun
- Reyka Jayasinghe
- Ricardo De Paoli-Iseppi
- Ricardo E Vilain
- Rich Boyce
- Richard A Gibbs
- Richard A Moore
- Richard A Scolyer
- Richard F Kefford
- Richard K Wilson
- Richard Sallari
- Richard Turkington
- Rita T Lawlor
- Ritika Kundra
- Robert A Holt
- Robert C Grant
- Robert Cerfolio
- Robert E Denroche
- Robert G Bristow
- Robert L Grossman
- Robert Petryszak
- Robert S Fulton
- Robert S Fulton
- Roberto Salgado
- Roberto Salvia
- Roberto Tirabosco
- Robyn P M Saw
- Roelof Koster
- Roland Eils
- Roland Eils
- Roland F Schwarz
- Rolf Kabbe
- Romina Royo
- Romina Royo
- Ronald Ghossein
- Ronald Simon
- Ronny Drapkin
- Rory Johnson
- Rosa Karlić
- Rosalind A Eeles
- Rosamonde E Banks
- Roy Tarnuzzer
- Ruben M Drews
- Rui Xing
- Rui Yamaguchi
- Ruian Shi
- Russell R Broaddus
- S Cenk Sahinalp
- S Cenk Sahinalp
- S M Ashiqul Islam
- Sabina Signoretti
- Sagedeh Shahabi
- Saianand Balu
- Saksena Gordon
- Salem Malikic
- Salvatore Paiella
- Sam Behjati
- Samantha Bersani
- Samantha J Caesar-Johnson
- Samirkumar B Amin
- Samuel Aparicio
- Samuel R Meier
- Samuel Singer
- Sancha Martin
- Sandra E Edwards
- Sandrine Boyault
- Sandro Morganella
- Sangeetha Kalimuthu
- Sanja Mijalkovic
- Santiago Gonzalez
- Santiago Gonzalez
- Sara Cingarlini
- Sara Sadeghi
- Sarah Minner
- Sarah O'Meara
- Sarah P Thayer
- Sarah Pinder
- Sarah Thomas
- Sarah-Jane Schramm
- Satoru Miyano
- Satoshi Hirano
- Savitri Krishnamurthy
- Scott Frazer
- Scott Wood
- Se Jin Jang
- Sean Cleary
- Sean M Grimmond
- Sebastian M Waszak
- Sebastian M Waszak
- Seiya Imoto
- Seong Gu Heo
- Serap Erkek
- Serena Nik-Zainal
- Serge Serge
- Sergei Yakneen
- Sergei Yakneen
- Sergi Beltran
- Sergio Pulido-Tamayo
- Seung Jun Shin
- Seung-Hyup Jeon
- Shadrielle M G Espiritu
- Shadrielle M G Espiritu
- Shailja Gupta
- Shankar Vembu
- Shanlin Yang
- Shantao Li
- Shaoke Lou
- Shaolong Cao
- Shaowu Meng
- Sharmila Sothi
- Shaun R Preston
- Sheila M Reynolds
- Sheila M Reynolds
- Sheng-Ben Liang
- Shengjie Gao
- Shengjie Gao
- Shida Zhu
- Shimin Shuai
- Shinichi Mizuno
- Shinichi Yachida
- Shinya Hayami
- Shogo Yamamoto
- Shona MacRae
- Shriram G Bhosle
- Shuai Ding
- Shumpei Ishikawa
- Shun-Ichi Ariizumi
- Shuto Hayashi
- Sian Fereday
- Siegfried Haas
- Sietse Aukema
- Siliang Li
- Simon C Heath
- Simon L Parsons
- Simon Mayes
- Simon Tavaré
- Simpson Jared T
- Singer Ma
- Sinisa Ivkovic
- Sissel Juul
- Solomon I Shorser
- Sonia Grimaldi
- Sonia Puig
- Stacey B Gabriel
- Stefan C Dentro
- Stefan G Stark
- Stefan M Pfister
- Stefan Schreiber
- Stefania Tommasi
- Stefano Barbi
- Stefano Serra
- Stephan H Bernhart
- Stephan Ossowski
- Stephan Ossowski
- Stephan Stilgenbauer
- Stephan Wolf
- Stephanie Sungalee
- Stephen B Baylin
- Stephen H Kazakoff
- Stephen J Chanock
- Stephen J Hayes
- Stephen M Cordner
- Stephenie D Prokopec
- Steve Hawkins
- Steve Hoffmann
- Steven A Roberts
- Steven E Schumacher
- Steven Foltz
- Steven G Rozen
- Steven Gallinger
- Steven Hazell
- Steven J M Jones
- Steven J Newhouse
- Steven Van Laere
- Stian Knappskog
- Stuart Edmonds
- Stuart R Jefferys
- Su Pin Choo
- Subhajit Sengupta
- Sue Merson
- Suet-Feung Chin
- Sultan T Al-Sedairy
- Sung-Min Ahn
- Sung-Soo Yoon
- Sunghoon Cho
- Sunil R Lakhani
- Suresh Ramalingam
- Susan Bullman
- Susanna L Cooke
- Sushant Kumar
- Sushant Kumar
- Suyash S Shringarpure
- Syed Haider
- Sylvia Asa
- Søren Brunak
- Takafumi N Yamaguchi
- Takafumi N Yamaguchi
- Takanori Hasegawa
- Takashi Yugawa
- Takashi Yugawa
- Takuji Okusaka
- Tal Shmaya
- Tannistha Nandi
- Taobo Hu
- Taobo Hu
- Tapio Visakorpi
- Tara J Skelly
- Tari A King
- Tatsuhiko Tsunoda
- Tatsuhiro Shibata
- Ted R Hupp
- Tetsuo Ushiku
- Theodorus Van der Kwast
- Thomas E Carey
- Thomas J Hudson
- Thomas J Matthew
- Thomas J Mitchell
- Thorsten Schlomm
- Thorsten Zenz
- Tian Xia
- Tim Dudderidge
- Tim Ley
- Timothy A Beck
- Timothy Defreitas
- Timothy J C Bruxner
- Timothy J Underwood
- Tina Wong
- Tirso Pons
- Tobias Madsen
- Tobias Rausch
- Todd A Johnson
- Todd D Pihl
- Tom Bodenheimer
- Tom Mikkelsen
- Tom Roques
- Tomas J Tanskanen
- Tomas Marques-Bonet
- Tomoko Urushidate
- Torill Sauer
- Toru Nakamura
- Treasa A McPherson
- Troy Shelton
- Tsun-Po Yang
- Ultan McDermott
- Umadevi Veluvolu
- Umut H Toprak
- Valerie Jakrot
- Varsha Tembe
- Vasilisa A Rudneva
- Venkata D Yellapantula
- Venkata D Yellapantula
- Vera B Kaiser
- Veronica Y Sabelnykova
- Victor Reuter
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Walker Hale
- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
- Wenyi Wang
- Wheeler David A
- William B Isaacs
- William C Faquin
- William Friedman
- William Howat
- William U Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Nature Communications
- Publication date
- 01/01/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
- Author
- Accogli Andrea
- Bakhtiari Somayeh
- Bhandiwad Ashwin A.
- Brilstra Eva
- Capra Valeria
- Caruso Paul A.
- Carvill Gemma L.
- Casari Giorgio
- Depienne Christel
- Feyma Timothy
- Gill Deepak
- Guida Brandon S.
- Helbig Katherine L.
- Hollingsworth Georgina
- Huether Robert
- Jansen Floor E.
- Kleefstra Tjitske
- Koeleman Bobby
- Kruer Michael C.
- Kruer Tyler N.
- Lesca Gaetan
- Lewis Sara
- Lin Angela E.
- Mathieu Marie-Laure
- Mefford Heather C.
- Myers Candace T.
- Narayanan Vinodh
- Nava Caroline
- Oktay Sehribani Ulusoy
- Padilla-Lopez Sergio
- Perrin Laurine
- Raible David
- Ramsey Keri
- Rohena Luis O.
- Sa Joaquim
- Sadleir Lynette G
- Sattlegger Evelyn
- Scala Marcello
- Scheffer Ingrid E.
- Sebe Joy
- Severino Mariasavina
- Stickney Heather
- Striano Pasquale
- Tang Sha
- Willemsen Marjolein H.
- Publication venue
- 'Wiley'
- Publication date
- 01/01/2020
- Field of study
Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new individuals with heterozygous EEF1A2 variants. We functionally validate multiple variants as protein-damaging using heterologous expression and complementation analysis. Our findings allow us to confirm multiple variants as pathogenic and broaden the phenotypic spectrum to include dystonia/choreoathetosis, and in some cases a degenerative course with cerebral and cerebellar atrophy. Pathogenic variants appear to act via a haploinsufficiency mechanism, disrupting both the protein synthesis and integrated stress response functions of EEF1A2. Our studies provide evidence that EEF1A2 is highly intolerant to variation and that de novo pathogenic variants lead to an epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features. Developmental features may be driven by impaired synaptic protein synthesis during early brain development while progressive symptoms may be linked to an impaired ability to handle cytotoxic stressors
Recommended from our members
Sex differences in oncogenic mutational processes
- Author
- Aaltonen Lauri A.
- Abascal Federico
- Abeshouse Adam
- Aburatani Hiroyuki
- Adams David J.
- Agrawal Nishant
- Ahn Keun Soo
- Ahn Sung-Min
- Aikata Hiroshi
- Akbani Rehan
- Akdemir Kadir C.
- Al-Ahmadie Hikmat
- Al-Sedairy Sultan T.
- Al-Shahrour Fatima
- Alawi Malik
- Albert Monique
- Aldape Kenneth
- Alexandrov Ludmil B.
- Ally Adrian
- Alsop Kathryn
- Alvarez Eva G.
- Amary Fernanda
- Amin Samirkumar B.
- Aminou Brice
- Ammerpohl Ole
- Anderson Matthew J.
- Ang Yeng
- Antonello Davide
- Anur Pavana
- Aparicio Samuel
- Appelbaum Elizabeth L.
- Arai Yasuhito
- Aretz Axel
- Arihiro Koji
- Ariizumi Shun-ichi
- Armenia Joshua
- Arnau Gisela Mir
- Arnould Laurent
- Asa Sylvia
- Assenov Yassen
- Atwal Gurnit
- Aukema Sietse
- Auman J. Todd
- Aure Miriam R.
- Awadalla Philip
- Aymerich Marta
- Bader Gary D.
- Baez-Ortega Adrian
- Bailey Matthew H.
- Bailey Peter J.
- Balasundaram Miruna
- Balu Saianand
- Bandopadhayay Pratiti
- Banks Rosamonde E.
- Barbi Stefano
- Barbour Andrew P.
- Barenboim Jonathan
- Barnholtz-Sloan Jill
- Barr Hugh
- Barrera Elisabet
- Bartlett John
- Bartolome Javier
- Bassi Claudio
- Bathe Oliver F.
- Baumhoer Daniel
- Bavi Prashant
- Baylin Stephen B.
- Bazant Wojciech
- Beardsmore Duncan
- Beck Timothy A.
- Behjati Sam
- Behren Andreas
- Bell Cindy
- Beltran Sergi
- Benz Christopher
- Berchuck Andrew
- Bergmann Anke K.
- Bergstrom Erik N.
- Berman Benjamin P.
- Berney Daniel M.
- Bernhart Stephan H.
- Beroukhim Rameen
- Berrios Mario
- Bersani Samantha
- Bertl Johanna
- Betancourt Miguel
- Bhandari Vinayak
- Bhosle Shriram G.
- Biankin Andrew V.
- Bieg Matthias
- Bigner Darell
- Binder Hans
- Birney Ewan
- Birrer Michael
- Biswas Nidhan K.
- Bjerkehagen Bodil
- Bodenheimer Tom
- Boice Lori
- Bonizzato Giada
- Boot Arnoud
- Bootwalla Moiz S.
- Borg Ake
- Borkhardt Arndt
- Boroevich Keith A.
- Borozan Ivan
- Borst Christoph
- Bosenberg Marcus
- Bosio Mattia
- Boultwood Jacqueline
- Bourque Guillaume
- Boutros Paul C.
- Bova G. Steven
- Bowen David T.
- Bowlby Reanne
- Bowtell David D. L.
- Boyault Sandrine
- Boyce Rich
- Boyd Jeffrey
- Brazma Alvis
- Brennan Paul
- Brewer Daniel S.
- Brinkman Arie B.
- Bristow Robert G.
- Broaddus Russell R.
- Brock Jane E.
- Brock Malcolm
- Broeks Annegien
- Brooks Angela N.
- Brooks Denise
- Brors Benedikt
- Brunak Søren
- Bruxner Timothy J. C.
- Bruzos Alicia L.
- Buchanan Alex
- Buchhalter Ivo
- Buchholz Christiane
- Bullman Susan
- Burke Hazel
- Burkhardt Birgit
- Burns Kathleen H.
- Busanovich John
- Bustamante Carlos D.
- Butler Adam P.
- Butte Atul J.
- Byrne Niall J.
- Børresen-Dale Anne-Lise
- Caesar-Johnson Samantha J.
- Cafferkey Andy
- Cahill Declan
- Calabrese Claudia
- Caldas Carlos
- Calvo Fabien
- Camacho Niedzica
- Campbell Peter J.
- Campo Elias
- Cantù Cinzia
- Cao Shaolong
- Carey Thomas E.
- Carlevaro-Fita Joana
- Carlsen Rebecca
- Cataldo Ivana
- Cazzola Mario
- Cebon Jonathan
- Cerfolio Robert
- Chadwick Dianne E.
- Chakravarty Dimple
- Chalmers Don
- Chan Calvin Wing Yiu
- Chan Kin
- Chan-Seng-Yue Michelle
- Chandan Vishal S.
- Chang David K.
- Chanock Stephen J.
- Chantrill Lorraine A.
- Chateigner Aurélien
- Chatterjee Nilanjan
- Chayama Kazuaki
- Chen Hsiao-Wei
- Chen Jieming
- Chen Ken
- Chen Yiwen
- Chen Zhaohong
- Cherniack Andrew D.
- Chien Jeremy
- Chiew Yoke-Eng
- Chin Suet-Feung
- Cho Juok
- Cho Sunghoon
- Choi Jung Kyoon
- Choi Wan
- Chomienne Christine
- Chong Zechen
- Choo Su Pin
- Chou Angela
- Christ Angelika N.
- Christie Elizabeth L.
- Chuah Eric
- Cibulskis Carrie
- Cibulskis Kristian
- Cingarlini Sara
- Clapham Peter
- Claviez Alexander
- Cleary Sean
- Cloonan Nicole
- Cmero Marek
- Collins Colin C.
- Connor Ashton A.
- Cooke Susanna L.
- Cooper Colin S.
- Cope Leslie
- Corbo Vincenzo
- Cordes Matthew G.
- Cordner Stephen M.
- Cortés-Ciriano Isidro
- Covington Kyle
- Cowin Prue A.
- Craft Brian
- Craft David
- Creighton Chad J.
- Cun Yupeng
- Curley Erin
- Cutcutache Ioana
- Czajka Karolina
- Czerniak Bogdan
- Dagg Rebecca A.
- Danilova Ludmila
- Davi Maria Vittoria
- Davidson Natalie R.
- Davies Helen
- Davis Ian J.
- Davis-Dusenbery Brandi N.
- Dawson Kevin J.
- De Bono Johann S.
- De La Vega Francisco M.
- De Paoli-Iseppi Ricardo
- deFazio Anna
- Defreitas Timothy
- Dei Tos Angelo P.
- Delaneau Olivier
- Demchok John A.
- Demeulemeester Jonas
- Demidov German M.
- Demircioğlu Deniz
- Dennis Nening M.
- Denroche Robert E.
- Dentro Stefan C.
- Desai Nikita
- Deshpande Vikram
- Deshwar Amit G.
- Desmedt Christine
- Deu-Pons Jordi
- Dhalla Noreen
- Dhani Neesha C.
- Dhingra Priyanka
- Dhir Rajiv
- Diamanti Klev
- DiBiase Anthony
- Ding Li
- Ding Shuai
- Dinh Huy Q.
- Dirix Luc
- Doddapaneni HarshaVardhan
- Donmez Nilgun
- Dow Michelle T.
- Drapkin Ronny
- Drechsel Oliver
- Drews Ruben M.
- Dudderidge Tim
- Dueso-Barroso Ana
- Dunford Andrew J.
- Dunn Michael
- Dursi Lewis Jonathan
- Duthie Fraser R.
- Dutton-Regester Ken
- Eagles Jenna
- Easton Douglas F.
- Edmonds Stuart
- Edwards Paul A.
- Edwards Sandra E.
- Eeles Rosalind A.
- Ehinger Anna
- Eils Juergen
- Eils Roland
- El-Naggar Adel
- Eldridge Matthew
- Ellrott Kyle
- Erkek Serap
- Escaramis Georgia
- Espiritu Shadrielle M. G.
- Estivill Xavier
- Etemadmoghadam Dariush
- Eyfjord Jorunn E.
- Faltas Bishoy M.
- Fan Daiming
- Fan Yu
- Faquin William C.
- Farcas Claudiu
- Fassan Matteo
- Fatima Aquila
- Favero Francesco
- Fayzullaev Nodirjon
- Felau Ina
- Fereday Sian
- Ferguson Martin L.
- Ferretti Vincent
- Feuerbach Lars
- Field Matthew A.
- Fink J. Lynn
- Finocchiaro Gaetano
- Fisher Cyril
- Fittall Matthew W.
- Fitzgerald Anna
- Fitzgerald Rebecca C.
- Flanagan Adrienne M.
- Fleshner Neil E.
- Flicek Paul
- Foekens John A.
- Fong Kwun M.
- Fonseca Nuno A.
- Foster Christopher S.
- Fox Natalie S.
- Fraser Michael
- Frazer Scott
- Frenkel-Morgenstern Milana
- Friedman William
- Frigola Joan
- Fronick Catrina C.
- Fujimoto Akihiro
- Fujita Masashi
- Fukayama Masashi
- Fulton Lucinda A.
- Fulton Robert S.
- Furuta Mayuko
- Futreal P. Andrew
- Füllgrabe Anja
- Gabriel Stacey B.
- Gallinger Steven
- Gambacorti-Passerini Carlo
- Gao Jianjiong
- Gao Shengjie
- Garraway Levi
- Garred Øystein
- Garrison Erik
- Garsed Dale W.
- Gehlenborg Nils
- Gelpi Josep L. L.
- George Joshy
- Gerhard Daniela S.
- Gerhauser Clarissa
- Gershenwald Jeffrey E.
- Gerstein Mark
- Gerstung Moritz
- Getz Gad
- Ghori Mohammed
- Ghossein Ronald
- Giama Nasra H.
- Gibbs Richard A.
- Gill Anthony J.
- Gill Pelvender
- Giri Dilip D.
- Glodzik Dominik
- Gnanapragasam Vincent J.
- Goebler Maria Elisabeth
- Goldman Mary J.
- Gomez Carmen
- Gonzalez Santiago
- Gonzalez-Perez Abel
- Gordenin Dmitry A.
- Gossage James
- Gotoh Kunihito
- Govindan Ramaswamy
- Grabau Dorthe
- Graham Janet S.
- Grant Robert C.
- Green Anthony R.
- Green Eric
- Greger Liliana
- Grehan Nicola
- Grimaldi Sonia
- Grimmond Sean M.
- Grossman Robert L.
- Grundhoff Adam
- Gundem Gunes
- Guo Qianyun
- Gupta Manaswi
- Gupta Shailja
- Gut Ivo G.
- Gut Marta
- Göke Jonathan
- Ha Gavin
- Haake Andrea
- Haan David
- Haas Siegfried
- Haase Kerstin
- Haber James E.
- Habermann Nina
- Hach Faraz
- Haider Syed
- Hama Natsuko
- Hamdy Freddie C.
- Hamilton Anne
- Hamilton Mark P.
- Han Leng
- Hanna George B.
- Hansmann Martin
- Haradhvala Nicholas J.
- Harismendy Olivier
- Harliwong Ivon
- Harmanci Arif O.
- Harrington Eoghan
- Hasegawa Takanori
- Haussler David
- Hawkins Steve
- Hayami Shinya
- Hayashi Shuto
- Hayes D. Neil
- Hayes Stephen J.
- Hayward Nicholas K.
- Hazell Steven
- He Yao
- Heath Allison P.
- Heath Simon C.
- Hedley David
- Hegde Apurva M.
- Heiman David I.
- Heinold Michael C.
- Heins Zachary
- Heisler Lawrence E.
- Hellstrom-Lindberg Eva
- Helmy Mohamed
- Heo Seong Gu
- Hepperla Austin J.
- Heredia-Genestar José María
- Herrmann Carl
- Hersey Peter
- Hess Julian M.
- Hilmarsdottir Holmfridur
- Hinton Jonathan
- Hirano Satoshi
- Hiraoka Nobuyoshi
- Hoadley Katherine A.
- Hobolth Asger
- Hodzic Ermin
- Hoell Jessica I.
- Hoffmann Steve
- Hofmann Oliver
- Holbrook Andrea
- Holik Aliaksei Z.
- Hollingsworth Michael A.
- Holmes Oliver
- Holt Robert A.
- Hong Chen
- Hong Eun Pyo
- Hong Jongwhi H.
- Hooijer Gerrit K.
- Hornshøj Henrik
- Hosoda Fumie
- Hou Yong
- Hovestadt Volker
- Howat William
- Hoyle Alan P.
- Hruban Ralph H.
- Hu Jianhong
- Hu Taobo
- Hua Xing
- Huang Kuan-lin
- Huang Mei
- Huang Mi Ni
- Huang Vincent
- Huang Yi
- Huber Wolfgang
- Hudson Thomas J.
- Hummel Michael
- Hung Jillian A.
- Huntsman David
- Hupp Ted R.
- Huse Jason
- Huska Matthew R.
- Hutter Barbara
- Hutter Carolyn M.
- Hübschmann Daniel
- Iacobuzio-Donahue Christine A.
- Imbusch Charles David
- Imielinski Marcin
- Imoto Seiya
- Isaacs William B.
- Isaev Keren
- Ishikawa Shumpei
- Iskar Murat
- Islam S. M. Ashiqul
- Ittmann Michael
- Ivkovic Sinisa
- Izarzugaza Jose M. G.
- Jacquemier Jocelyne
- Jakrot Valerie
- Jamieson Nigel B.
- Jang Gun Ho
- Jang Se Jin
- Jayaseelan Joy C.
- Jayasinghe Reyka
- Jefferys Stuart R.
- Jegalian Karine
- Jennings Jennifer L.
- Jeon Seung-Hyup
- Jerman Lara
- Ji Yuan
- Jiao Wei
- Johansson Peter A.
- Johns Amber L.
- Johns Jeremy
- Johnson Rory
- Johnson Todd A.
- Jolly Clemency
- Joly Yann
- Jonasson Jon G.
- Jones Corbin D.
- Jones David R.
- Jones David T. W.
- Jones Nic
- Jones Steven J. M.
- Jonkers Jos
- Ju Young Seok
- Juhl Hartmut
- Jung Jongsun
- Juul Malene
- Juul Randi Istrup
- Juul Sissel
- Jäger Natalie
- Kabbe Rolf
- Kahles Andre
- Kahraman Abdullah
- Kaiser Vera B.
- Kakavand Hojabr
- Kalimuthu Sangeetha
- Kang Koo Jeong
- Karaszi Katalin
- Karlan Beth
- Karlić Rosa
- Karsch Dennis
- Kasaian Katayoon
- Kassahn Karin S.
- Katai Hitoshi
- Kato Mamoru
- Katoh Hiroto
- Kawakami Yoshiiku
- Kay Jonathan D.
- Kazakoff Stephen H.
- Kazanov Marat D.
- Keays Maria
- Kebebew Electron
- Kefford Richard F.
- Kellis Manolis
- Kench James G.
- Kennedy Catherine J.
- Kerssemakers Jules N. A.
- Khoo David
- Khoo Vincent
- Khuntikeo Narong
- Khurana Ekta
- Kilpinen Helena
- Kim Hark Kyun
- Kim Hyung-Lae
- Kim Hyung-Yong
- Kim Hyunghwan
- Kim Jaegil
- Kim Jihoon
- Kim Jong K.
- Kim Youngwook
- King Tari A.
- Klapper Wolfram
- Kleinheinz Kortine
- Klimczak Leszek J.
- Knappskog Stian
- Kneba Michael
- Knoppers Bartha M.
- Koh Youngil
- Komorowski Jan
- Komura Daisuke
- Komura Mitsuhiro
- Kong Gu
- Kool Marcel
- Korbel Jan O.
- Korchina Viktoriya
- Korshunov Andrey
- Koscher Michael
- Koster Roelof
- Kote-Jarai Zsofia
- Koures Antonios
- Kovacevic Milena
- Kremeyer Barbara
- Kretzmer Helene
- Kreuz Markus
- Krishnamurthy Savitri
- Kube Dieter
- Kumar Kiran
- Kumar Pardeep
- Kumar Sushant
- Kumar Yogesh
- Kundra Ritika
- Kübler Kirsten
- Küppers Ralf
- Lagergren Jesper
- Lai Phillip H.
- Laird Peter W.
- Lakhani Sunil R.
- Lalansingh Christopher M.
- Lalonde Emilie
- Lamaze Fabien C.
- Lambert Adam
- Lander Eric
- Landgraf Pablo
- Landoni Luca
- Langerød Anita
- Lanzós Andrés
- Larsimont Denis
- Larsson Erik
- Lathrop Mark
- Lau Loretta M. S.
- Lawerenz Chris
- Lawlor Rita T.
- Lawrence Michael S.
- Lazar Alexander J.
- Le Xuan
- Lee Darlene
- Lee Donghoon
- Lee Eunjung Alice
- Lee Hee Jin
- Lee Jake June-Koo
- Lee Jeong-Yeon
- Lee Juhee
- Lee Ming Ta Michael
- Lee-Six Henry
- Lehmann Kjong-Van
- Lehrach Hans
- Lenze Dido
- Leonard Conrad R.
- Leongamornlert Daniel A.
- Leshchiner Ignaty
- Letourneau Louis
- Letunic Ivica
- Levine Douglas A.
- Lewis Lora
- Ley Tim
- Li Chang
- Li Constance H.
- Li Haiyan Irene
- Li Jun
- Li Lin
- Li Shantao
- Li Siliang
- Li Xiaobo
- Li Xiaotong
- Li Xinyue
- Li Yilong
- Liang Han
- Liang Sheng-Ben
- Lichter Peter
- Lin Pei
- Lin Ziao
- Linehan W. M.
- Lingjærde Ole Christian
- Liu Dongbing
- Liu Eric Minwei
- Liu Fei-Fei
- Liu Fenglin
- Liu Jia
- Liu Xingmin
- Livingstone Julie
- Livitz Dimitri
- Livni Naomi
- Lochovsky Lucas
- Loeffler Markus
- Long Georgina V.
- Lopez-Guillermo Armando
- Lou Shaoke
- Louis David N.
- Lovat Laurence B.
- Lu Yiling
- Lu Yong-Jie
- Lu Youyong
- Luchini Claudio
- Lungu Ilinca
- Luo Xuemei
- Luxton Hayley J.
- Lynch Andy G.
- Lype Lisa
- López Cristina
- López-Otín Carlos
- Ma Eric Z.
- Ma Yussanne
- MacGrogan Gaetan
- Macintyre Geoff
- MacRae Shona
- Madsen Tobias
- Maejima Kazuhiro
- Mafficini Andrea
- Maglinte Dennis T.
- Maitra Arindam
- Majumder Partha P.
- Malcovati Luca
- Malikic Salem
- Malleo Giuseppe
- Mann Graham J.
- Mantovani-Löffler Luisa
- Marchal Kathleen
- Marchegiani Giovanni
- Mardis Elaine R.
- Margolin Adam
- Margolin Adam A.
- Marin Maximillian G.
- Markowetz Florian
- Markowski Julia
- Marks Jeffrey
- Marques-Bonet Tomas
- Marra Marco A.
- Marsden Luke
- Martens John W. M.
- Martin Sancha
- Martin-Subero Jose I.
- Martincorena Iñigo
- Martinez-Fundichely Alexander
- Maruvka Yosef E.
- Mashl R. Jay
- Massie Charlie E.
- Matthew Thomas J.
- Matthews Lucy
- Mayer Erik
- Mayes Simon
- Mayo Michael
- Mbabaali Faridah
- McCune Karen
- McDermott Ultan
- McGillivray Patrick D.
- McLellan Michael D.
- McPherson John D.
- McPherson John R.
- McPherson Treasa A.
- Meier Samuel R.
- Meng Alice
- Meng Shaowu
- Menzies Andrew
- Merrett Neil D.
- Merson Sue
- Meyerson Matthew
- Meyerson William
- Mieczkowski Piotr A.
- Mihaiescu George L.
- Mijalkovic Sanja
- Mijalkovic-Lazic Ana Mijalkovic
- Mikkelsen Tom
- Milella Michele
- Mileshkin Linda
- Miller Christopher A.
- Miller David K.
- Miller Jessica K.
- Mills Gordon B.
- Milovanovic Ana
- Minner Sarah
- Miotto Marco
- Mirabello Lisa
- Mitchell Chris
- Mitchell Thomas J.
- Miyano Satoru
- Miyoshi Naoki
- Mizuno Shinichi
- Molnár-Gábor Fruzsina
- Moore Malcolm J.
- Moore Richard A.
- Morganella Sandro
- Morris Quaid D.
- Morrison Carl
- Mose Lisle E.
- Moser Catherine D.
- Muiños Ferran
- Mularoni Loris
- Mungall Andrew J.
- Mungall Karen
- Musgrove Elizabeth A.
- Mustonen Ville
- Mutch David
- Muyas Francesc
- Muzny Donna M.
- Muñoz Alfonso
- Myers Jerome
- Myklebost Ola
- Möller Peter
- Nagae Genta
- Nagrial Adnan M.
- Nahal-Bose Hardeep K.
- Nakagama Hitoshi
- Nakagawa Hidewaki
- Nakamura Hiromi
- Nakamura Toru
- Nakano Kaoru
- Nandi Tannistha
- Nangalia Jyoti
- Nastic Mia
- Navarro Arcadi
- Navarro Fabio C. P.
- Neal David E.
- Nettekoven Gerd
- Newell Felicity
- Newhouse Steven J.
- Newton Yulia
- Ng Alvin Wei Tian
- Ng Anthony
- Nicholson Jonathan
- Nicol David
- Nie Yongzhan
- Nielsen G. Petur
- Nielsen Morten Muhlig
- Nik-Zainal Serena
- Niu Beifang
- Noble Michael S.
- Nones Katia
- Northcott Paul A.
- Notta Faiyaz
- Ocana David
- Ochoa Angelica
- Oesper Layla
- Ogden Christopher
- Ohdan Hideki
- Ohi Kazuhiro
- Ohno-Machado Lucila
- Oien Karin A.
- Ojesina Akinyemi I.
- Ojima Hidenori
- Okusaka Takuji
- Omberg Larsson
- Ong Chovon Kiat
- Ossowski Stephan
- Ott German
- Ouellette B. F. Francis
- O’Connor Brian D.
- O’Donnell Peter
- O’Donovan Maria
- O’Meara Sarah
- O’Neill Brian Patrick
- O’Neill J. Robert
- Paczkowska Marta
- Paiella Salvatore
- Pairojkul Chawalit
- Pajic Marina
- Pan-Hammarström Qiang
- Papaemmanuil Elli
- Papatheodorou Irene
- Paramasivam Nagarajan
- Park Ji Wan
- Park Joong-Won
- Park Keunchil
- Park Kiejung
- Park Peter J.
- Parker Joel S.
- Parsons Simon L.
- Pass Harvey
- Pasternack Danielle
- Pastore Alessandro
- Patch Ann-Marie
- Pauporté Iris
- Pea Antonio
- Pearson John V.
- Pedamallu Chandra Sekhar
- Pedersen Jakob Skou
- Pederzoli Paolo
- Peifer Martin
- Pennell Nathan A.
- Perou Charles M.
- Perry Marc D.
- Petersen Gloria M.
- Peto Myron
- Petrelli Nicholas
- Petryszak Robert
- Pfister Stefan M.
- Phillips Mark
- Pich Oriol
- Pickett Hilda A.
- Pihl Todd D.
- Pillay Nischalan
- Pinder Sarah
- Pinese Mark
- Pinho Andreia V.
- Pitkänen Esa
- Pivot Xavier
- Piñeiro-Yáñez Elena
- Planko Laura
- Plass Christoph
- Polak Paz
- Pons Tirso
- Popescu Irinel
- Potapova Olga
- Prasad Aparna
- Preston Shaun R.
- Prinz Manuel
- Pritchard Antonia L.
- Prokopec Stephenie D.
- Provenzano Elena
- Puente Xose S.
- Puig Sonia
- Puiggròs Montserrat
- Pulido-Tamayo Sergio
- Pupo Gulietta M.
- Purdie Colin A.
- P’ng Christine
- Quinn Michael C.
- Rabionet Raquel
- Rader Janet S.
- Radlwimmer Bernhard
- Radovic Petar
- Raeder Benjamin
- Raghavan K. Vijay
- Raine Keiran M.
- Ramakrishna Manasa
- Ramakrishnan Kamna
- Ramalingam Suresh
- Raphael Benjamin J.
- Rathmell W. Kimryn
- Rausch Tobias
- Reifenberger Guido
- Reimand Jüri
- Reis-Filho Jorge
- Reuter Victor
- Reyes-Salazar Iker
- Reyna Matthew A.
- Reynolds Sheila M.
- Rheinbay Esther
- Riazalhosseini Yasser
- Richardson Andrea L.
- Richter Julia
- Ringel Matthew
- Ringnér Markus
- Rino Yasushi
- Rippe Karsten
- Roach Jeffrey
- Roberts Lewis R.
- Roberts Nicola D.
- Roberts Steven A.
- Robertson A. Gordon
- Robertson Alan J.
- Rodriguez Javier Bartolomé
- Rodriguez-Martin Bernardo
- Rodríguez-González F. Germán
- Roehrl Michael H. A.
- Rohde Marius
- Rokutan Hirofumi
- Romieu Gilles
- Rooman Ilse
- Roques Tom
- Rosebrock Daniel
- Rosenberg Mara
- Rosenstiel Philip C.
- Rosenwald Andreas
- Rowe Edward W.
- Royo Romina
- Rozen Steven G.
- Rubanova Yulia
- Rubin Mark A.
- Rubio-Perez Carlota
- Rudneva Vasilisa A.
- Rusev Borislav C.
- Ruzzenente Andrea
- Rätsch Gunnar
- Sabarinathan Radhakrishnan
- Sabelnykova Veronica Y.
- Sadeghi Sara
- Sahinalp S. Cenk
- Saini Natalie
- Saito-Adachi Mihoko
- Saksena Gordon
- Salcedo Adriana
- Salgado Roberto
- Salichos Leonidas
- Sallari Richard
- Saller Charles
- Salvia Roberto
- Sam Michelle
- Samra Jaswinder S.
- Sanchez-Vega Francisco
- Sander Chris
- Sanders Grant
- Sarin Rajiv
- Sarrafi Iman
- Sasaki-Oku Aya
- Sauer Torill
- Sauter Guido
- Saw Robyn P. M.
- Scardoni Maria
- Scarlett Christopher J.
- Scarpa Aldo
- Scelo Ghislaine
- Schadendorf Dirk
- Schein Jacqueline E.
- Schilhabel Markus B.
- Schlesner Matthias
- Schlomm Thorsten
- Schmidt Heather K.
- Schmitz Nathaniel
- Schramm Sarah-Jane
- Schreiber Stefan
- Schultz Nikolaus
- Schumacher Steven E.
- Schwarz Roland F.
- Scolyer Richard A.
- Scott David
- Scully Ralph
- Seethala Raja
- Segre Ayellet V.
- Selander Iris
- Semple Colin A.
- Senbabaoglu Yasin
- Sengupta Subhajit
- Sereni Elisabetta
- Serge Serge
- Serra Stefano
- Sgroi Dennis C.
- Shackleton Mark
- Shah Nimish C.
- Shahabi Sagedeh
- Shang Catherine A.
- Shang Ping
- Shapira Ofer
- Shelton Troy
- Shen Ciyue
- Shen Hui
- Shepherd Rebecca
- Shi Ruian
- Shi Yan
- Shiah Yu-Jia
- Shibata Tatsuhiro
- Shih Juliann
- Shimizu Eigo
- Shimizu Kiyo
- Shin Seung Jun
- Shiraishi Yuichi
- Shmaya Tal
- Shmulevich Ilya
- Shorser Solomon I.
- Short Charles
- Shrestha Raunak
- Shringarpure Suyash S.
- Shriver Craig
- Shuai Shimin
- Sidiropoulos Nikos
- Siebert Reiner
- Sieuwerts Anieta M.
- Sieverling Lina
- Signoretti Sabina
- Sikora Katarzyna O.
- Simbolo Michele
- Simon Ronald
- Simons Janae V.
- Simpson Jared T.
- Simpson Peter T.
- Singer Samuel
- Sinnott-Armstrong Nasa
- Sipahimalani Payal
- Skelly Tara J.
- Smid Marcel
- Smith Jaclyn
- Smith-McCune Karen
- Socci Nicholas D.
- Sofia Heidi J.
- Soloway Matthew G.
- Song Lei
- Sood Anil K.
- Sothi Sharmila
- Sotiriou Christos
- Soulette Cameron M.
- Span Paul N.
- Spellman Paul T.
- Sperandio Nicola
- Spillane Andrew J.
- Spiro Oliver
- Spring Jonathan
- Staaf Johan
- Stadler Peter F.
- Staib Peter
- Stark Stefan G.
- Stebbings Lucy
- Stefánsson Ólafur Andri
- Stegle Oliver
- Stein Lincoln D.
- Stenhouse Alasdair
- Stewart Chip
- Stilgenbauer Stephan
- Stobbe Miranda D.
- Stratton Michael R.
- Stretch Jonathan R.
- Struck Adam J.
- Stuart Joshua M.
- Stunnenberg Henk G.
- Su Hong
- Su Xiaoping
- Sun Ren X.
- Sungalee Stephanie
- Susak Hana
- Suzuki Akihiro
- Sweep Fred
- Szczepanowski Monika
- Sültmann Holger
- Tam Angela
- Tamborero David
- Tan Benita Kiat Tee
- Tan Donghui
- Tan Patrick
- Tanaka Hiroko
- Taniguchi Hirokazu
- Tanskanen Tomas J.
- Tarabichi Maxime
- Tarnuzzer Roy
- Tarpey Patrick
- Taschuk Morgan L.
- Tatsuno Kenji
- Tavaré Simon
- Taylor Darrin F.
- Taylor-Weiner Amaro
- Teague Jon W.
- Teh Bin Tean
- Tembe Varsha
- Temes Javier
- Thai Kevin
- Thayer Sarah P.
- Thiessen Nina
- Thomas Gilles
- Thomas Sarah
- Thompson Alan
- Thompson Alastair M.
- Thompson John F.
- Thompson R. Houston
- Thorne Heather
- Thorne Leigh B.
- Thorogood Adrian
- Tiao Grace
- Tijanic Nebojsa
- Timms Lee E.
- Tirabosco Roberto
- Tojo Marta
- Tommasi Stefania
- Toon Christopher W.
- Toprak Umut H.
- Torrents David
- Tortora Giampaolo
- Tost Jörg
- Totoki Yasushi
- Townend David
- Traficante Nadia
- Treilleux Isabelle
- Trotta Jean-Rémi
- Trümper Lorenz H. P.
- Tsao Ming
- Tsunoda Tatsuhiko
- Tubio Jose M. C.
- Tucker Olga
- Turkington Richard
- Turner Daniel J.
- Tutt Andrew
- Ueno Masaki
- Ueno Naoto T.
- Umbricht Christopher
- Umer Husen M.
- Underwood Timothy J.
- Urban Lara
- Urushidate Tomoko
- Ushiku Tetsuo
- Uusküla-Reimand Liis
- Valencia Alfonso
- van As Nicholas
- van de Vijver Marc J.
- Van Den Berg David J.
- Van den Eynden Gert G.
- Van der Kwast Theodorus
- van Deurzen Carolien H. M.
- Van Laere Steven
- Van Loo Peter
- Van Meir Erwin G.
- Vasudev Naveen
- Vazquez Miguel
- Vedururu Ravikiran
- Veer L. van’t
- Veluvolu Umadevi
- Vembu Shankar
- Verbeke Lieven P. C.
- Vermeulen Peter
- Verrill Clare
- Viari Alain
- Vicente David
- Vicentini Caterina
- Viksna Juris
- Vilain Ricardo E.
- Villasante Izar
- Vincent-Salomon Anne
- Visakorpi Tapio
- Voet Douglas
- von Kalle Christof
- von Mering Christian
- Vyas Paresh
- Vázquez-García Ignacio
- Waddell Nick M.
- Waddell Nicola
- Wadelius Claes
- Wadi Lina
- Wagener Rabea
- Wala Jeremiah A.
- Wang Jian
- Wang Jiayin
- Wang Linghua
- Wang Qi
- Wang Wenyi
- Wang Yumeng
- Wang Zhining
- Waring Paul M.
- Warnatz Hans-Jörg
- Warrell Jonathan
- Warren Anne Y.
- Waszak Sebastian M.
- Wedge David C.
- Weichenhan Dieter
- Weinberger Paul
- Weinstein John N.
- Weischenfeldt Joachim
- Weisenberger Daniel J.
- Welch Ian
- Wendl Michael C.
- Werner Johannes
- Whalley Justin P.
- Wheeler David A.
- Whitaker Hayley C.
- Wigle Dennis
- Wilkerson Matthew D.
- Williams Ashley
- Wilmott James S.
- Wilson Gavin W.
- Wilson Julie M.
- Wilson Richard K.
- Winterhoff Boris
- Wintersinger Jeffrey A.
- Wiznerowicz Maciej
- Wolf Stephan
- Wong Bernice H.
- Wong Tina
- Wong Winghing
- Woo Youngchoon
- Wood Scott
- Wouters Bradly G.
- Wright Adam J.
- Wright Derek W.
- Wright Mark H.
- Wu Chin-Lee
- Wu Dai-Ying
- Wu Guanming
- Wu Jianmin
- Wu Kui
- Wu Yang
- Wu Zhenggang
- Xi Liu
- Xia Tian
- Xiang Qian
- Xiao Xiao
- Xing Rui
- Xiong Heng
- Xu Qinying
- Xu Yanxun
- Xue Hong
- Yachida Shinichi
- Yakneen Sergei
- Yamaguchi Rui
- Yamaguchi Takafumi N.
- Yamamoto Masakazu
- Yamamoto Shogo
- Yamaue Hiroki
- Yang Fan
- Yang Huanming
- Yang Jean Y.
- Yang Liming
- Yang Lixing
- Yang Shanlin
- Yang Tsun-Po
- Yang Yang
- Yao Xiaotong
- Yaspo Marie-Laure
- Yates Lucy
- Yau Christina
- Ye Chen
- Ye Kai
- Yellapantula Venkata D.
- Yoon Christopher J.
- Yoon Sung-Soo
- Yousif Fouad
- Yu Jun
- Yu Kaixian
- Yu Willie
- Yu Yingyan
- Yuan Ke
- Yuan Yuan
- Yuen Denis
- Yugawa Takashi
- Yung Christina K.
- Zaikova Olga
- Zamora Jorge
- Zapatka Marc
- Zenklusen Jean C.
- Zenz Thorsten
- Zeps Nikolajs
- Zhang Cheng-Zhong
- Zhang Fan
- Zhang Hailei
- Zhang Hongwei
- Zhang Hongxin
- Zhang Jiashan
- Zhang Jing
- Zhang Junjun
- Zhang Xiuqing
- Zhang Xuanping
- Zhang Yan
- Zhang Zemin
- Zhao Zhongming
- Zheng Liangtao
- Zheng Xiuqing
- Zhou Wanding
- Zhou Yong
- Zhu Bin
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- Nature Communications
- Publication date
- 28/08/2020
- Field of study
Funder: Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada (NSERC Canadian Network for Research and Innovation in Machining Technology); doi: https://doi.org/10.13039/501100002790Funder: Genome Canada (Génome Canada); doi: https://doi.org/10.13039/100008762Funder: Canada Foundation for Innovation (Fondation canadienne pour l'innovation); doi: https://doi.org/10.13039/501100000196Funder: Terry Fox Research Institute (Institut de Recherche Terry Fox); doi: https://doi.org/10.13039/501100004376Abstract: Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research
Sex differences in oncogenic mutational processes
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam Margolin
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Barbara Hutter
- Barbara Kremeyer
- Bartha M Knoppers
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
- Benjamin J Raphael
- Benjamin P Berman
- Benjamin Raeder
- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
- Bin Zhu
- Birgit Burkhardt
- Bishoy M Faltas
- Bishoy M Faltas
- Bodil Bjerkehagen
- Bogdan Czerniak
- Boris Winterhoff
- Borislav C Rusev
- Boutros
- Bradly G Wouters
- Brandi N Davis-Dusenbery
- Brian Craft
- Brian D O'Connor
- Brian Patrick O'Neill
- Brice Aminou
- Calvin Wing Yiu Chan
- Cameron M Soulette
- Carl Herrmann
- Carl Morrison
- Carlo Gambacorti-Passerini
- Carlos Caldas
- Carlos D Bustamante
- Carlos López-Otín
- Carlota Rubio-Perez
- Carmen Gomez
- Carolien H M van Deurzen
- Carolyn M Hutter
- Carrie Cibulskis
- Caterina Vicentini
- Catherine A Shang
- Catherine D Moser
- Catherine J Kennedy
- Catrina C Fronick
- Chad J Creighton
- Chandra Sekhar Pedamallu
- Chang Li
- Charles David Imbusch
- Charles M Perou
- Charles Saller
- Charles Short
- Charlie E Massie
- Chawalit Pairojkul
- Chen Hong
- Chen Ye
- Cheng-Zhong Zhang
- Chin-Lee Wu
- Chin-Lee Wu
- Chip Stewart
- Chovon Kiat Ong
- Chris Lawerenz
- Chris Mitchell
- Chris Sander
- Christian von Mering
- Christiane Buchholz
- Christina K Yung
- Christina Yau
- Christine A Iacobuzio-Donahue
- Christine Chomienne
- Christine Desmedt
- Christine P'ng
- Christine P'ng
- Christof von Kalle
- Christoph Borst
- Christoph Plass
- Christopher A Miller
- Christopher Benz
- Christopher J Scarlett
- Christopher J Yoon
- Christopher M Lalansingh
- Christopher Ogden
- Christopher S Foster
- Christopher Umbricht
- Christopher W Toon
- Christos Sotiriou
- Cindy Bell
- Cinzia Cantù
- Ciyue Shen
- Claes Wadelius
- Clare Verrill
- Clarissa Gerhauser
- Claudia Calabrese
- Claudio Bassi
- Claudio Luchini
- Claudiu Farcas
- Clemency Jolly
- Colin A Purdie
- Colin A Semple
- Colin A Semple
- Colin C Collins
- Colin S Cooper
- Conrad R Leonard
- Constance H Li
- Constance H Li
- Corbin D Jones
- Craig Shriver
- Cristina López
- Cyril Fisher
- D Neil Hayes
- Dai-Ying Wu
- Daiming Fan
- Daisuke Komura
- Dale W Garsed
- Daniel A Leongamornlert
- Daniel Baumhoer
- Daniel Hübschmann
- Daniel J Turner
- Daniel J Weisenberger
- Daniel M Berney
- Daniel Rosebrock
- Daniel S Brewer
- Daniela S Gerhard
- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
- Darrin F Taylor
- David A Wheeler
- David C Wedge
- David Craft
- David D L Bowtell
- David E Neal
- David Haan
- David Haussler
- David Hedley
- David Huntsman
- David I Heiman
- David J Adams
- David J Van Den Berg
- David K Chang
- David K Chang
- David K Miller
- David Khoo
- David Mutch
- David N Louis
- David N Louis
- David Nicol
- David Ocana
- David R Jones
- David Scott
- David T Bowen
- David T W Jones
- David Tamborero
- David Torrents
- David Townend
- David Vicente
- Davide Antonello
- Declan Cahill
- Denis Larsimont
- Denis Yuen
- Denise Brooks
- Deniz Demircioğlu
- Dennis C Sgroi
- Dennis C Sgroi
- Dennis Karsch
- Dennis T Maglinte
- Dennis Wigle
- Derek W Wright
- Derek W Wright
- Dianne E Chadwick
- Dido Lenze
- Dieter Kube
- Dieter Weichenhan
- Dilip D Giri
- Dimitri Livitz
- Dimple Chakravarty
- Dirk Schadendorf
- Dmitry A Gordenin
- Dominik Glodzik
- Don Chalmers
- Dongbing Liu
- Donghoon Lee
- Donghui Tan
- Donna M Muzny
- Dorthe Grabau
- Douglas A Levine
- Douglas F Easton
- Douglas Voet
- Duncan Beardsmore
- Edward W Rowe
- Eigo Shimizu
- Ekta Khurana
- Elaine R Mardis
- Electron Kebebew
- Elena Piñeiro-Yáñez
- Elena Provenzano
- Elias Campo
- Elisabet Barrera
- Elisabetta Sereni
- Elizabeth A Musgrove
- Elizabeth L Appelbaum
- Elizabeth L Christie
- Elli Papaemmanuil
- Emilie Lalonde
- Eoghan Harrington
- Eric Chuah
- Eric Green
- Eric Lander
- Eric Minwei Liu
- Eric Z Ma
- Erik Garrison
- Erik Larsson
- Erik Mayer
- Erik N Bergstrom
- Erin Curley
- Ermin Hodzic
- Erwin G Van Meir
- Esa Pitkänen
- Esther Rheinbay
- Esther Rheinbay
- Eun Pyo Hong
- Eunjung Alice Lee
- Eva G Alvarez
- Eva Hellstrom-Lindberg
- Ewan Birney
- F Germán Rodríguez-González
- Fabien C Lamaze
- Fabien Calvo
- Fabio C P Navarro
- Faiyaz Notta
- Fan Yang
- Fan Zhang
- Faraz Hach
- Faridah Mbabaali
- Fatima Al-Shahrour
- Federico Abascal
- Fei-Fei Liu
- Felicity Newell
- Fenglin Liu
- Fernanda Amary
- Ferran Muiños
- Florian Markowetz
- Francesc Muyas
- Francesco Favero
- Francisco M De La Vega
- Francisco Sanchez-Vega
- Fraser R Duthie
- Fred Sweep
- Freddie C Hamdy
- Fruzsina Molnár-Gábor
- Fumie Hosoda
- G Petur Nielsen
- G Petur Nielsen
- G Steven Bova
- Gad Getz
- Gad Getz
- Gaetan MacGrogan
- Gaetano Finocchiaro
- Gary D Bader
- Gavin Ha
- Gavin W Wilson
- Genta Nagae
- Geoff Macintyre
- George B Hanna
- George L Mihaiescu
- Georgia Escaramis
- Georgina V Long
- Gerd Nettekoven
- German M Demidov
- German Ott
- Gerrit K Hooijer
- Gert G Van den Eynden
- Ghislaine Scelo
- Giada Bonizzato
- Giampaolo Tortora
- Gilles Romieu
- Gilles Thomas
- Giovanni Marchegiani
- Gisela Mir Arnau
- Giuseppe Malleo
- Gloria M Petersen
- Gordon B Mills
- Gordon Saksena
- Grace Tiao
- Graham J Mann
- Grant Sanders
- Gu Kong
- Guanming Wu
- Guido Reifenberger
- Guido Sauter
- Guillaume Bourque
- Gulietta M Pupo
- Gun Ho Jang
- Gunes Gundem
- Gunnar Rätsch
- Gurnit Atwal
- Gurnit Atwal
- Hailei Zhang
- Haiyan Irene Li
- Han Liang
- Hana Susak
- Hans Binder
- Hans Lehrach
- Hans-Jörg Warnatz
- Hardeep K Nahal-Bose
- Hardeep K Nahal-Bose
- Hark Kyun Kim
- HarshaVardhan Doddapaneni
- Hartmut Juhl
- Harvey Pass
- Hayley C Whitaker
- Hayley J Luxton
- Hazel Burke
- Heather K Schmidt
- Heather Thorne
- Hee Jin Lee
- Heidi J Sofia
- Helen Davies
- Helena Kilpinen
- Helene Kretzmer
- Heng Xiong
- Henk G Stunnenberg
- Henrik Hornshøj
- Henry Lee-Six
- Hideki Ohdan
- Hidenori Ojima
- Hidewaki Nakagawa
- Hikmat Al-Ahmadie
- Hilda A Pickett
- Hirofumi Rokutan
- Hirokazu Taniguchi
- Hiroki Yamaue
- Hiroko Tanaka
- Hiromi Nakamura
- Hiroshi Aikata
- Hiroto Katoh
- Hiroyuki Aburatani
- Hitoshi Katai
- Hitoshi Nakagama
- Hojabr Kakavand
- Holger Sültmann
- Holmfridur Hilmarsdottir
- Hong Su
- Hong Xue
- Hongtu Zhu
- Hongwei Zhang
- Hongxin Zhang
- Hsiao-Wei Chen
- Huanming Yang
- Hugh Barr
- Hui Shen
- Husen M Umer
- Huy Q Dinh
- Hyung-Lae Kim
- Hyung-Yong Kim
- Hyunghwan Kim
- Ian J Davis
- Ian Welch
- Ignacio Vázquez-García
- Ignaty Leshchiner
- Iker Reyes-Salazar
- Ilinca Lungu
- Ilse Rooman
- Ilya Shmulevich
- Iman Sarrafi
- Ina Felau
- Ioana Cutcutache
- Irene Papatheodorou
- Irinel Popescu
- Iris Pauporté
- Iris Selander
- Isabelle Treilleux
- Isidro Cortés-Ciriano
- Ivan Borozan
- Ivana Cataldo
- Ivica Letunic
- Ivo Buchhalter
- Ivo G Gut
- Ivon Harliwong
- Izar Villasante
- Iñigo Martincorena
- J Lynn Fink
- J Robert O'Neill
- J Todd Auman
- Jaclyn Smith
- Jaclyn Smith
- Jacqueline Boultwood
- Jacqueline E Schein
- Jaegil Kim
- Jake June-Koo Lee
- Jakob Skou Pedersen
- James E Haber
- James G Kench
- James Gossage
- James S Wilmott
- Jan Komorowski
- Jan O Korbel
- Janae V Simons
- Jane E Brock
- Janet S Graham
- Janet S Rader
- Jared T Simpson
- Jason Huse
- Jaswinder S Samra
- Javier Bartolome
- Javier Bartolomé Rodriguez
- Javier Temes
- Jean C Zenklusen
- Jean Y Yang
- Jean-Rémi Trotta
- Jeffrey A Wintersinger
- Jeffrey Boyd
- Jeffrey E Gershenwald
- Jeffrey Marks
- Jeffrey Roach
- Jenna Eagles
- Jennifer L Jennings
- Jeong-Yeon Lee
- Jeremiah A Wala
- Jeremy Chien
- Jeremy Johns
- Jerome Myers
- Jesper Lagergren
- Jessica I Hoell
- Jessica K Miller
- Ji Wan Park
- Jia Liu
- Jian Wang
- Jianhong Hu
- Jianjiong Gao
- Jianmin Wu
- Jiashan Zhang
- Jiayin Wang
- Jieming Chen
- Jihoon Kim
- Jill Barnholtz-Sloan
- Jillian A Hung
- Jing Zhang
- Jingchun Zhu
- Joachim Weischenfeldt
- Joan Frigola
- Joana Carlevaro-Fita
- Jocelyne Jacquemier
- Joel S Parker
- Johan Staaf
- Johann S De Bono
- Johanna Bertl
- Johannes Werner
- John A Demchok
- John A Foekens
- John Bartlett
- John Busanovich
- John D McPherson
- John F Thompson
- John N Weinstein
- John R McPherson
- John V Pearson
- John W M Martens
- Jon G Jonasson
- Jon W Teague
- Jonas Demeulemeester
- Jonathan Barenboim
- Jonathan Cebon
- Jonathan D Kay
- Jonathan Göke
- Jonathan Hinton
- Jonathan Nicholson
- Jonathan R Stretch
- Jonathan Spring
- Jonathan Warrell
- Jong K Kim
- Jongsun Jung
- Jongwhi H Hong
- Joong-Won Park
- Jordi Deu-Pons
- Jorge Reis-Filho
- Jorge Zamora
- Jorunn E Eyfjord
- Jos Jonkers
- Jose I Martin-Subero
- Jose M C Tubio
- Jose M G Izarzugaza
- Josep L L Gelpi
- Joshua Armenia
- Joshua M Stuart
- Joshy George
- José María Heredia-Genestar
- Joy C Jayaseelan
- Juergen Eils
- Juhee Lee
- Jules N A Kerssemakers
- Julia Markowski
- Julia Richter
- Julian M Hess
- Juliann Shih
- Julie Livingstone
- Julie M Wilson
- Jun Li
- Jun Yu
- Jung Kyoon Choi
- Junjun Zhang
- Junjun Zhang
- Juok Cho
- Juris Viksna
- Justin P Whalley
- Jyoti Nangalia
- Jörg Tost
- Jüri Reimand
- K Vijay Raghavan
- Kadir C Akdemir
- Kai Ye
- Kaixian Yu
- Kamna Ramakrishnan
- Kaoru Nakano
- Karen McCune
- Karen Mungall
- Karen Smith-McCune
- Karin A Oien
- Karin S Kassahn
- Karine Jegalian
- Karolina Czajka
- Karsten Rippe
- Katalin Karaszi
- Katarzyna O Sikora
- Katayoon Kasaian
- Katherine A Hoadley
- Katherine A Hoadley
- Kathleen H Burns
- Kathleen Marchal
- Kathryn Alsop
- Katia Nones
- Kazuaki Chayama
- Kazuhiro Maejima
- Kazuhiro Ohi
- Ke Yuan
- Ke Yuan
- Keiran M Raine
- Keith A Boroevich
- Ken Chen
- Ken Dutton-Regester
- Kenji Tatsuno
- Kenneth Aldape
- Keren Isaev
- Kerstin Haase
- Keun Soo Ahn
- Keunchil Park
- Kevin J Dawson
- Kevin Thai
- Kevin Thai
- Kiejung Park
- Kin Chan
- Kiran Kumar
- Kirsten Kübler
- Kirsten Kübler
- Kiyo Shimizu
- Kjong-Van Lehmann
- Klev Diamanti
- Koji Arihiro
- Koo Jeong Kang
- Kortine Kleinheinz
- Kristian Cibulskis
- Kuan-Lin Huang
- Kui Wu
- Kunihito Gotoh
- Kwun M Fong
- Kyle Covington
- Kyle Ellrott
- L Van't Veer
- Lara Jerman
- Lara Urban
- Lars Feuerbach
- Larsson Omberg
- Larsson Omberg
- Laura Planko
- Laurence B Lovat
- Laurent Arnould
- Lauri A Aaltonen
- Lawrence E Heisler
- Layla Oesper
- Lee E Timms
- Lei Song
- Leigh B Thorne
- Leng Han
- Leonidas Salichos
- Leslie Cope
- Leszek J Klimczak
- Levi Garraway
- Levi Garraway
- Lewis Jonathan Dursi
- Lewis R Roberts
- Li Ding
- Li Constance H
- Liangtao Zheng
- Lieven P C Verbeke
- Lihua Zou
- Liis Uusküla-Reimand
- Liliana Greger
- Liming Yang
- Lin Li
- Lina Sieverling
- Lina Wadi
- Lincoln D Stein
- Lincoln D Stein
- Linda Mileshkin
- Linghua Wang
- Lisa Lype
- Lisa Mirabello
- Lisle E Mose
- Liu Xi
- Lixing Yang
- Lora Lewis
- Lorenz H P Trümper
- Loretta M S Lau
- Lori Boice
- Loris Mularoni
- Lorraine A Chantrill
- Louis Letourneau
- Luc Dirix
- Luca Landoni
- Luca Malcovati
- Lucas Lochovsky
- Lucila Ohno-Machado
- Lucinda A Fulton
- Lucy Matthews
- Lucy Stebbings
- Lucy Yates
- Ludmil B Alexandrov
- Ludmila Danilova
- Luisa Mantovani-Löffler
- Luke Marsden
- Maciej Wiznerowicz
- Malcolm Brock
- Malcolm J Moore
- Malene Juul
- Malik Alawi
- Mamoru Kato
- Mamoru Kato
- Manasa Ramakrishna
- Manaswi Gupta
- Manolis Kellis
- Manuel Prinz
- Mara Rosenberg
- Marat D Kazanov
- Marc D Perry
- Marc D Perry
- Marc J van de Vijver
- Marc Zapatka
- Marcel Kool
- Marcel Smid
- Marcin Imielinski
- Marco A Marra
- Marco Miotto
- Marcus Bosenberg
- Marek Cmero
- Maria Elisabeth Goebler
- Maria Keays
- Maria O'Donovan
- Maria Scardoni
- Maria Vittoria Davi
- Marie-Laure Yaspo
- Marina Pajic
- Mario Berrios
- Mario Cazzola
- Marius Rohde
- Mark A Rubin
- Mark A Rubin
- Mark Gerstein
- Mark H Wright
- Mark Lathrop
- Mark P Hamilton
- Mark Phillips
- Mark Pinese
- Mark Shackleton
- Markus B Schilhabel
- Markus Kreuz
- Markus Loeffler
- Markus Ringnér
- Marta Aymerich
- Marta Gut
- Marta Paczkowska
- Marta Tojo
- Martin Hansmann
- Martin L Ferguson
- Martin Peifer
- Mary J Goldman
- Masakazu Yamamoto
- Masaki Ueno
- Masashi Fujita
- Masashi Fukayama
- Matteo Fassan
- Matthew A Field
- Matthew A Reyna
- Matthew D Wilkerson
- Matthew Eldridge
- Matthew G Cordes
- Matthew G Soloway
- Matthew H Bailey
- Matthew J Anderson
- Matthew Meyerson
- Matthew R Huska
- Matthew Ringel
- Matthew W Fittall
- Matthias Bieg
- Matthias Schlesner
- Mattia Bosio
- Maxime Tarabichi
- Maximillian G Marin
- Mayuko Furuta
- Mei Huang
- Mi Ni Huang
- Mia Nastic
- Michael A Hollingsworth
- Michael Birrer
- Michael C Heinold
- Michael C Quinn
- Michael C Wendl
- Michael D McLellan
- Michael Dunn
- Michael Fraser
- Michael H A Roehrl
- Michael Hummel
- Michael Ittmann
- Michael Kneba
- Michael Koscher
- Michael Mayo
- Michael R Stratton
- Michael S Lawrence
- Michael S Noble
- Michele Milella
- Michele Simbolo
- Michelle Chan-Seng-Yue
- Michelle Sam
- Michelle T Dow
- Miguel Betancourt
- Miguel Vazquez
- Mihoko Saito-Adachi
- Milana Frenkel-Morgenstern
- Milena Kovacevic
- Ming Ta Michael Lee
- Ming Tsao
- Miranda D Stobbe
- Miranda D Stobbe
- Miriam R Aure
- Miruna Balasundaram
- Mitsuhiro Komura
- Mohamed Helmy
- Mohammed Ghori
- Moiz S Bootwalla
- Monika Szczepanowski
- Monique Albert
- Montserrat Puiggròs
- Morgan L Taschuk
- Moritz Gerstung
- Morten Muhlig Nielsen
- Murat Iskar
- Myron Peto
- Nadia Traficante
- Nagarajan Paramasivam
- Naoki Miyoshi
- Naomi Livni
- Naoto T Ueno
- Narong Khuntikeo
- Nasa Sinnott-Armstrong
- Nasra H Giama
- Natalie Jäger
- Natalie R Davidson
- Natalie S Fox
- Natalie Saini
- Nathan A Pennell
- Natsuko Hama
- Naveen Vasudev
- Nebojsa Tijanic
- Neesha C Dhani
- Neil D Merrett
- Neil E Fleshner
- Nening M Dennis
- Niall J Byrne
- Nic Jones
- Nicholas D Socci
- Nicholas J Haradhvala
- Nicholas K Hayward
- Nicholas Petrelli
- Nicholas van As
- Nick M Waddell
- Nicola D Roberts
- Nicola Grehan
- Nicola Sperandio
- Nicola Waddell
- Nicole Cloonan
- Nidhan K Biswas
- Niedzica Camacho
- Nigel B Jamieson
- Nikita Desai
- Nikolajs Zeps
- Nikolaus Schultz
- Nikos Sidiropoulos
- Nilanjan Chatterjee
- Nilgun Donmez
- Nils Gehlenborg
- Nimish C Shah
- Nina Habermann
- Nina Thiessen
- Nischalan Pillay
- Nishant Agrawal
- Nobuyoshi Hiraoka
- Nodirjon Fayzullaev
- Noreen Dhalla
- Nuno A Fonseca
- Ofer Shapira
- Ola Myklebost
- Ole Ammerpohl
- Ole Christian Lingjærde
- Olga Potapova
- Olga Tucker
- Olga Zaikova
- Oliver Drechsel
- Oliver F Bathe
- Oliver Hofmann
- Oliver Holmes
- Oliver Spiro
- Oliver Stegle
- Olivier Delaneau
- Olivier Harismendy
- Oriol Pich
- P Andrew Futreal
- Pablo Landgraf
- Paolo Pederzoli
- Pardeep Kumar
- Paresh Vyas
- Partha P Majumder
- Patrick D McGillivray
- Patrick Tan
- Patrick Tarpey
- Paul A Edwards
- Paul A Northcott
- Paul Brennan
- Paul C Boutros
- Paul C Boutros
- Paul C Fatima Al-Shahrour
- Paul Flicek
- Paul M Waring
- Paul N Span
- Paul T Spellman
- Paul Weinberger
- Pavana Anur
- Payal Sipahimalani
- Paz Polak
- Paz Polak
- Pei Lin
- Pelvender Gill
- Petar Radovic
- Peter A Johansson
- Peter Clapham
- Peter F Stadler
- Peter Hersey
- Peter J Bailey
- Peter J Bailey
- Peter J Campbell
- Peter J Campbell
- Peter J Park
- Peter Lichter
- Peter Möller
- Peter O'Donnell
- Peter Staib
- Peter T Simpson
- Peter Van Loo
- Peter Vermeulen
- Peter W Laird
- Philip Awadalla
- Philip C Rosenstiel
- Phillip H Lai
- Ping Shang
- Piotr A Mieczkowski
- Prashant Bavi
- Pratiti Bandopadhayay
- Priyanka Dhingra
- Prokopec Stephenie D
- Prue A Cowin
- Qi Wang
- Qian Xiang
- Qiang Pan-Hammarström
- Qianyun Guo
- Qinying Xu
- Quaid D Morris
- R Houston Thompson
- R Jay Mashl
- Rabea Wagener
- Radhakrishnan Sabarinathan
- Raja Seethala
- Rajiv Dhir
- Rajiv Sarin
- Ralf Küppers
- Ralph H Hruban
- Ralph Scully
- Ramaswamy Govindan
- Rameen Beroukhim
- Randi Istrup Juul
- Raquel Rabionet
- Raunak Shrestha
- Ravikiran Vedururu
- Reanne Bowlby
- Rebecca A Dagg
- Rebecca C Fitzgerald
- Rebecca Carlsen
- Rebecca Shepherd
- Rehan Akbani
- Reiner Siebert
- Reiner Siebert
- Ren X Sun
- Ren X Sun
- Reyka Jayasinghe
- Ricardo De Paoli-Iseppi
- Ricardo E Vilain
- Rich Boyce
- Richard A Gibbs
- Richard A Moore
- Richard A Scolyer
- Richard F Kefford
- Richard K Wilson
- Richard Sallari
- Richard Turkington
- Rita T Lawlor
- Ritika Kundra
- Robert A Holt
- Robert C Grant
- Robert Cerfolio
- Robert E Denroche
- Robert G Bristow
- Robert L Grossman
- Robert Petryszak
- Robert S Fulton
- Roberto Salgado
- Roberto Salvia
- Roberto Tirabosco
- Robyn P M Saw
- Roelof Koster
- Roland Eils
- Roland F Schwarz
- Rolf Kabbe
- Romina Royo
- Ronald Ghossein
- Ronald Simon
- Ronny Drapkin
- Rory Johnson
- Rosa Karlić
- Rosa Karlić
- Rosalind A Eeles
- Rosamonde E Banks
- Roy Tarnuzzer
- Ruben M Drews
- Rui Xing
- Rui Yamaguchi
- Ruian Shi
- Russell R Broaddus
- S Cenk Sahinalp
- S M Ashiqul Islam
- Sabina Signoretti
- Sagedeh Shahabi
- Saianand Balu
- Salem Malikic
- Salvatore Paiella
- Sam Behjati
- Samantha Bersani
- Samantha J Caesar-Johnson
- Samirkumar B Amin
- Samuel Aparicio
- Samuel R Meier
- Samuel Singer
- Sancha Martin
- Sancha Martin
- Sandra E Edwards
- Sandrine Boyault
- Sandro Morganella
- Sangeetha Kalimuthu
- Sanja Mijalkovic
- Santiago Gonzalez
- Sara Cingarlini
- Sara Sadeghi
- Sarah Minner
- Sarah O'Meara
- Sarah P Thayer
- Sarah Pinder
- Sarah Thomas
- Sarah-Jane Schramm
- Satoru Miyano
- Satoshi Hirano
- Savitri Krishnamurthy
- Schmitz Nathaniel
- Scott Frazer
- Scott Wood
- Se Jin Jang
- Sean Cleary
- Sean M Grimmond
- Sean M Grimmond
- Sebastian M Waszak
- Seiya Imoto
- Seong Gu Heo
- Serap Erkek
- Serena Nik-Zainal
- Serena Nik-Zainal
- Serge Serge
- Sergei Yakneen
- Sergi Beltran
- Sergio Pulido-Tamayo
- Seung Jun Shin
- Seung-Hyup Jeon
- Shadrielle M G Espiritu
- Shailja Gupta
- Shankar Vembu
- Shanlin Yang
- Shantao Li
- Shaoke Lou
- Shaolong Cao
- Shaowu Meng
- Sharmila Sothi
- Shaun R Preston
- Sheila M Reynolds
- Sheng-Ben Liang
- Shengjie Gao
- Shida Zhu
- Shimin Shuai
- Shinichi Mizuno
- Shinichi Yachida
- Shinya Hayami
- Shogo Yamamoto
- Shona MacRae
- Shriram G Bhosle
- Shuai Ding
- Shumpei Ishikawa
- Shun-Ichi Ariizumi
- Shuto Hayashi
- Sian Fereday
- Siegfried Haas
- Sietse Aukema
- Siliang Li
- Simon C Heath
- Simon L Parsons
- Simon Mayes
- Simon Tavaré
- Sinisa Ivkovic
- Sissel Juul
- Solomon I Shorser
- Sonia Grimaldi
- Sonia Puig
- Stacey B Gabriel
- Stefan C Dentro
- Stefan G Stark
- Stefan M Pfister
- Stefan Schreiber
- Stefania Tommasi
- Stefano Barbi
- Stefano Serra
- Stephan H Bernhart
- Stephan Ossowski
- Stephan Stilgenbauer
- Stephan Wolf
- Stephanie Sungalee
- Stephen B Baylin
- Stephen H Kazakoff
- Stephen J Chanock
- Stephen J Hayes
- Stephen M Cordner
- Steve Hawkins
- Steve Hoffmann
- Steven A Roberts
- Steven E Schumacher
- Steven G Rozen
- Steven Gallinger
- Steven Hazell
- Steven J M Jones
- Steven J Newhouse
- Steven Van Laere
- Stian Knappskog
- Stuart Edmonds
- Stuart R Jefferys
- Su Pin Choo
- Subhajit Sengupta
- Sue Merson
- Suet-Feung Chin
- Sultan T Al-Sedairy
- Sun Ren X
- Sung-Min Ahn
- Sung-Soo Yoon
- Sunghoon Cho
- Sunil R Lakhani
- Suresh Ramalingam
- Susan Bullman
- Susanna L Cooke
- Susanna L Cooke
- Sushant Kumar
- Suyash S Shringarpure
- Syed Haider
- Syed Haider
- Sylvia Asa
- Søren Brunak
- Takafumi N Yamaguchi
- Takanori Hasegawa
- Takashi Yugawa
- Takashi Yugawa
- Takuji Okusaka
- Tal Shmaya
- Tannistha Nandi
- Taobo Hu
- Tapio Visakorpi
- Tara J Skelly
- Tari A King
- Tatsuhiko Tsunoda
- Tatsuhiro Shibata
- Tatsuhiro Shibata
- Ted R Hupp
- Tetsuo Ushiku
- Theodorus Van der Kwast
- Thomas E Carey
- Thomas J Hudson
- Thomas J Matthew
- Thomas J Mitchell
- Thorsten Schlomm
- Thorsten Zenz
- Tian Xia
- Tim Dudderidge
- Tim Ley
- Timothy A Beck
- Timothy Defreitas
- Timothy J C Bruxner
- Timothy J Underwood
- Tina Wong
- Tirso Pons
- Tobias Madsen
- Tobias Rausch
- Todd A Johnson
- Todd D Pihl
- Tom Bodenheimer
- Tom Mikkelsen
- Tom Roques
- Tomas J Tanskanen
- Tomas Marques-Bonet
- Tomoko Urushidate
- Torill Sauer
- Toru Nakamura
- Treasa A McPherson
- Troy Shelton
- Tsun-Po Yang
- Ultan McDermott
- Umadevi Veluvolu
- Umut H Toprak
- Valerie Jakrot
- Varsha Tembe
- Vasilisa A Rudneva
- Venkata D Yellapantula
- Vera B Kaiser
- Vera B Kaiser
- Veronica Y Sabelnykova
- Victor Reuter
- Vikram Deshpande
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Wan Choi
- Wanding Zhou
- Wei Jiao
- Wei Jiao
- Wenyi Wang
- William B Isaacs
- William C Faquin
- William C Faquin
- William Friedman
- William Howat
- William Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Yousif Fouad
- Youyong Lu
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Publication date
- 01/01/2020
- Field of study
Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Peer reviewe
Recommended from our members
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- Aaltonen Lauri A.
- Abascal Federico
- Abeshouse Adam
- Aburatani Hiroyuki
- Adams David J.
- Agrawal Nishant
- Ahn Keun Soo
- Ahn Sung-Min
- Aikata Hiroshi
- Akbani Rehan
- Akdemir Kadir C.
- Al-Ahmadie Hikmat
- Al-Sedairy Sultan T.
- Al-Shahrour Fatima
- Alawi Malik
- Albert Monique
- Aldape Kenneth
- Alexandrov Ludmil B.
- Ally Adrian
- Alsop Kathryn
- Alvarez Eva G.
- Amary Fernanda
- Amin Samirkumar B.
- Aminou Brice
- Ammerpohl Ole
- Anderson Matthew J.
- Ang Yeng
- Antonello Davide
- Anur Pavana
- Aparicio Samuel
- Appelbaum Elizabeth L.
- Arai Yasuhito
- Aretz Axel
- Arihiro Koji
- Ariizumi Shun-ichi
- Armenia Joshua
- Arnau Gisela Mir
- Arnould Laurent
- Asa Sylvia
- Assenov Yassen
- Atwal Gurnit
- Aukema Sietse
- Auman J. Todd
- Aure Miriam R.
- Awadalla Philip
- Aymerich Marta
- Bader Gary D.
- Baez-Ortega Adrian
- Bailey Matthew H.
- Bailey Peter J.
- Balasundaram Miruna
- Balu Saianand
- Bandopadhayay Pratiti
- Banks Rosamonde E.
- Barbi Stefano
- Barbour Andrew P.
- Barenboim Jonathan
- Barnholtz-Sloan Jill
- Barr Hugh
- Barrera Elisabet
- Bartlett John
- Bartolome Javier
- Bassi Claudio
- Bathe Oliver F.
- Baumhoer Daniel
- Bavi Prashant
- Baylin Stephen B.
- Bazant Wojciech
- Beardsmore Duncan
- Beck Timothy A.
- Behjati Sam
- Behren Andreas
- Bell Cindy
- Beltran Sergi
- Benz Christopher
- Berchuck Andrew
- Bergmann Anke K.
- Bergstrom Erik N.
- Berman Benjamin P.
- Berney Daniel M.
- Bernhart Stephan H.
- Beroukhim Rameen
- Berrios Mario
- Bersani Samantha
- Bertl Johanna
- Betancourt Miguel
- Bhandari Vinayak
- Bhosle Shriram G.
- Biankin Andrew V.
- Bieg Matthias
- Bigner Darell
- Bin Zhu
- Binder Hans
- Birney Ewan
- Birrer Michael
- Biswas Nidhan K.
- Bjerkehagen Bodil
- Bodenheimer Tom
- Boice Lori
- Bonizzato Giada
- Boot Arnoud
- Bootwalla Moiz S.
- Borg Ake
- Borkhardt Arndt
- Boroevich Keith A.
- Borozan Ivan
- Borst Christoph
- Bosenberg Marcus
- Bosio Mattia
- Boultwood Jacqueline
- Bourque Guillaume
- Boutros Paul C.
- Bova G. Steven
- Bowen David T.
- Bowlby Reanne
- Bowtell David D. L.
- Boyault Sandrine
- Boyce Rich
- Boyd Jeffrey
- Brazma Alvis
- Brennan Paul
- Brewer Daniel S.
- Brinkman Arie B.
- Bristow Robert G.
- Broaddus Russell R.
- Brock Jane E.
- Brock Malcolm
- Broeks Annegien
- Brooks Angela N.
- Brooks Denise
- Brors Benedikt
- Brunak Søren
- Bruxner Timothy J. C.
- Bruzos Alicia L.
- Buchanan Alex
- Buchhalter Ivo
- Buchholz Christiane
- Bullman Susan
- Burke Hazel
- Burkhardt Birgit
- Burns Kathleen H.
- Busanovich John
- Bustamante Carlos D.
- Butler Adam P.
- Butte Atul J.
- Byrne Niall J.
- Børresen-Dale Anne-Lise
- Caesar-Johnson Samantha J.
- Cafferkey Andy
- Cahill Declan
- Calabrese Claudia
- Caldas Carlos
- Calvo Fabien
- Camacho Niedzica
- Campbell Peter J.
- Campo Elias
- Cantù Cinzia
- Cao Shaolong
- Carey Thomas E.
- Carlevaro-Fita Joana
- Carlsen Rebecca
- Cataldo Ivana
- Cazzola Mario
- Cebon Jonathan
- Cerfolio Robert
- Chadwick Dianne E.
- Chakravarty Dimple
- Chalmers Don
- Chan Calvin Wing Yiu
- Chan Kin
- Chan-Seng-Yue Michelle
- Chandan Vishal S.
- Chang David K.
- Chanock Stephen J.
- Chantrill Lorraine A.
- Chateigner Aurélien
- Chatterjee Nilanjan
- Chayama Kazuaki
- Chen Hsiao-Wei
- Chen Jieming
- Chen Ken
- Chen Yiwen
- Chen Zhaohong
- Cherniack Andrew D.
- Chien Jeremy
- Chiew Yoke-Eng
- Chin Suet-Feung
- Chiotti Kami
- Cho Juok
- Cho Sunghoon
- Choi Jung Kyoon
- Choi Wan
- Chomienne Christine
- Chong Zechen
- Choo Su Pin
- Chou Angela
- Christ Angelika N.
- Christie Elizabeth L.
- Chuah Eric
- Cibulskis Carrie
- Cibulskis Kristian
- Cingarlini Sara
- Clapham Peter
- Claviez Alexander
- Cleary Sean
- Cloonan Nicole
- Cmero Marek
- Collins Colin C.
- Connor Ashton A.
- Cooke Susanna L.
- Cooper Colin S.
- Cope Leslie
- Corbo Vincenzo
- Cordes Matthew G.
- Cordner Stephen M.
- Cortés-Ciriano Isidro
- Covington Kyle
- Cowin Prue A.
- Craft Brian
- Craft David
- Creason Allison
- Creighton Chad J.
- Cun Yupeng
- Curley Erin
- Cutcutache Ioana
- Czajka Karolina
- Czerniak Bogdan
- Dagg Rebecca A.
- Danilova Ludmila
- Davi Maria Vittoria
- Davidson Natalie R.
- Davies Helen
- Davis Ian J.
- Davis-Dusenbery Brandi N.
- Dawson Kevin J.
- De Bono Johann S.
- De La Vega Francisco M.
- De Paoli-Iseppi Ricardo
- deFazio Anna
- Defreitas Timothy
- Dei Tos Angelo P.
- Delaneau Olivier
- Demchok John A.
- Demeulemeester Jonas
- Demidov German M.
- Demircioğlu Deniz
- Dennis Nening M.
- Denroche Robert E.
- Dentro Stefan C.
- Desai Nikita
- Deshpande Vikram
- Deshwar Amit G.
- Desmedt Christine
- Deu-Pons Jordi
- Dhalla Noreen
- Dhani Neesha C.
- Dhingra Priyanka
- Dhir Rajiv
- Diamanti Klev
- DiBiase Anthony
- Ding Li
- Ding Shuai
- Dinh Huy Q.
- Dirix Luc
- Doddapaneni HarshaVardhan
- Dong Guanlan
- Donmez Nilgun
- Dow Michelle T.
- Drapkin Ronny
- Drechsel Oliver
- Drews Ruben M.
- Dudderidge Tim
- Dueso-Barroso Ana
- Dunford Andrew J.
- Dunn Michael
- Dursi Lewis Jonathan
- Duthie Fraser R.
- Dutton-Regester Ken
- Eagles Jenna
- Easton Douglas F.
- Edmonds Stuart
- Edwards Paul A.
- Edwards Sandra E.
- Eeles Rosalind A.
- Ehinger Anna
- Eils Juergen
- Eils Roland
- El-Naggar Adel
- Eldridge Matthew
- Ellrott Kyle
- Erkek Serap
- Escaramis Georgia
- Espiritu Shadrielle M. G.
- Estivill Xavier
- Etemadmoghadam Dariush
- Eyfjord Jorunn E.
- Faltas Bishoy M.
- Fan Daiming
- Fan Yu
- Faquin William C.
- Farcas Claudiu
- Fassan Matteo
- Fatima Aquila
- Favero Francesco
- Fayzullaev Nodirjon
- Felau Ina
- Fereday Sian
- Ferguson Martin L.
- Ferretti Vincent
- Feuerbach Lars
- Field Matthew A.
- Fink J. Lynn
- Finocchiaro Gaetano
- Fisher Cyril
- Fittall Matthew W.
- Fitzgerald Anna
- Fitzgerald Rebecca C.
- Flanagan Adrienne M.
- Fleshner Neil E.
- Flicek Paul
- Foekens John A.
- Foltz Steven
- Fong Kwun M.
- Fonseca Nuno A.
- Foster Christopher S.
- Fox Natalie S.
- Fraser Michael
- Frazer Scott
- Frenkel-Morgenstern Milana
- Friedman William
- Frigola Joan
- Fronick Catrina C.
- Fujimoto Akihiro
- Fujita Masashi
- Fukayama Masashi
- Fulton Lucinda A.
- Fulton Robert S.
- Furuta Mayuko
- Futreal P. Andrew
- Füllgrabe Anja
- Gabriel Stacey B.
- Gallinger Steven
- Gambacorti-Passerini Carlo
- Gao Jianjiong
- Gao Shengjie
- Garraway Levi
- Garred Øystein
- Garrison Erik
- Garsed Dale W.
- Gehlenborg Nils
- Gelpi Josep L. l.
- George Joshy
- Gerhard Daniela S.
- Gerhauser Clarissa
- Gershenwald Jeffrey E.
- Gerstein Mark B.
- Gerstung Moritz
- Getz Gad
- Ghori Mohammed
- Ghossein Ronald
- Giama Nasra H.
- Gibbs Richard A.
- Gill Anthony J.
- Gill Pelvender
- Giri Dilip D.
- Glodzik Dominik
- Gnanapragasam Vincent J.
- Goebler Maria Elisabeth
- Goldman Mary J.
- Gomez Carmen
- Gonzalez Santiago
- Gonzalez-Perez Abel
- Gordenin Dmitry A.
- Gossage James
- Gotoh Kunihito
- Govindan Ramaswamy
- Grabau Dorthe
- Graham Janet S.
- Grant Robert C.
- Green Anthony R.
- Green Eric
- Greger Liliana
- Grehan Nicola
- Grimaldi Sonia
- Grimmond Sean M.
- Grossman Robert L.
- Grundhoff Adam
- Gundem Gunes
- Guo Qianyun
- Gupta Manaswi
- Gupta Shailja
- Gut Ivo G.
- Gut Marta
- Göke Jonathan
- Ha Gavin
- Haake Andrea
- Haan David
- Haas Siegfried
- Haase Kerstin
- Haber James E.
- Habermann Nina
- Hach Faraz
- Haider Syed
- Hale Walker
- Hama Natsuko
- Hamdy Freddie C.
- Hamilton Anne
- Hamilton Mark P.
- Han Leng
- Hanna George B.
- Hansmann Martin
- Haradhvala Nicholas J.
- Harismendy Olivier
- Harliwong Ivon
- Harmanci Arif O.
- Harrington Eoghan
- Hasegawa Takanori
- Haussler David
- Hawkins Steve
- Hayami Shinya
- Hayashi Shuto
- Hayes D. Neil
- Hayes Stephen J.
- Hayward Nicholas K.
- Hazell Steven
- He Yao
- Heath Allison P.
- Heath Simon C.
- Hedley David
- Hegde Apurva M.
- Heiman David I.
- Heinold Michael C.
- Heins Zachary
- Heisler Lawrence E.
- Hellstrom-Lindberg Eva
- Helmy Mohamed
- Heo Seong Gu
- Hepperla Austin J.
- Heredia-Genestar José María
- Herrmann Carl
- Hersey Peter
- Hess Julian M.
- Hilmarsdottir Holmfridur
- Hinton Jonathan
- Hirano Satoshi
- Hiraoka Nobuyoshi
- Hoadley Katherine A.
- Hobolth Asger
- Hodzic Ermin
- Hoell Jessica I.
- Hoffmann Steve
- Hofmann Oliver
- Holbrook Andrea
- Holik Aliaksei Z.
- Hollingsworth Michael A.
- Holmes Oliver
- Holt Robert A.
- Hong Chen
- Hong Eun Pyo
- Hong Jongwhi H.
- Hooijer Gerrit K.
- Hornshøj Henrik
- Hosoda Fumie
- Hou Yong
- Hovestadt Volker
- Howat William
- Hoyle Alan P.
- Hruban Ralph H.
- Hu Jianhong
- Hu Taobo
- Hua Xing
- Huang Kuan-lin
- Huang Mei
- Huang Mi Ni
- Huang Vincent
- Huang Yi
- Huber Wolfgang
- Hudson Thomas J.
- Hummel Michael
- Hung Jillian A.
- Huntsman David
- Hupp Ted R.
- Huse Jason
- Huska Matthew R.
- Hutter Barbara
- Hutter Carolyn M.
- Hübschmann Daniel
- Iacobuzio-Donahue Christine A.
- Imbusch Charles David
- Imielinski Marcin
- Imoto Seiya
- Isaacs William B.
- Isaev Keren
- Ishikawa Shumpei
- Iskar Murat
- Islam S. M. Ashiqul
- Ittmann Michael
- Ivkovic Sinisa
- Izarzugaza Jose M. G.
- Jacquemier Jocelyne
- Jakrot Valerie
- Jamieson Nigel B.
- Jan Komorowski
- Jang Gun Ho
- Jang Se Jin
- Jayaseelan Joy C.
- Jayasinghe Reyka
- Jefferys Stuart R.
- Jegalian Karine
- Jennings Jennifer L.
- Jeon Seung-Hyup
- Jerman Lara
- Ji Yuan
- Jiao Wei
- Johansson Peter A.
- Johns Amber L.
- Johns Jeremy
- Johnson Rory
- Johnson Todd A.
- Jolly Clemency
- Joly Yann
- Jonasson Jon G.
- Jonathan Dursi Lewis
- Jones Corbin D.
- Jones David R.
- Jones David T. W.
- Jones Nic
- Jones Steven J. M.
- Jonkers Jos
- Ju Young Seok
- Juhl Hartmut
- Jung Jongsun
- Juul Malene
- Juul Randi Istrup
- Juul Sissel
- Jäger Natalie
- Kabbe Rolf
- Kahles Andre
- Kahraman Abdullah
- Kaiser Vera B.
- Kakavand Hojabr
- Kalimuthu Sangeetha
- Kandoth Cyriac
- Kang Koo Jeong
- Karaszi Katalin
- Karlan Beth
- Karlić Rosa
- Karsch Dennis
- Kasaian Katayoon
- Kasapi Melpomeni
- Kassahn Karin S.
- Katai Hitoshi
- Kato Mamoru
- Katoh Hiroto
- Kawakami Yoshiiku
- Kay Jonathan D.
- Kazakoff Stephen H.
- Kazanov Marat D.
- Keays Maria
- Kebebew Electron
- Kefford Richard F.
- Kellis Manolis
- Kelso Sean
- Kench James G.
- Kennedy Catherine J.
- Kerssemakers Jules N. A.
- Khoo David
- Khoo Vincent
- Khuntikeo Narong
- Khurana Ekta
- Kilpinen Helena
- Kim Hark Kyun
- Kim Hyung-Lae
- Kim Hyung-Yong
- Kim Hyunghwan
- Kim Jaegil
- Kim Jihoon
- Kim Jong K.
- Kim Youngwook
- King Tari A.
- Klapper Wolfram
- Kleinheinz Kortine
- Klimczak Leszek J.
- Knappskog Stian
- Kneba Michael
- Knoppers Bartha M.
- Koh Youngil
- Komura Daisuke
- Komura Mitsuhiro
- Kong Gu
- Kool Marcel
- Korbel Jan O.
- Korchina Viktoriya
- Korshunov Andrey
- Koscher Michael
- Koster Roelof
- Kote-Jarai Zsofia
- Koures Antonios
- Kovacevic Milena
- Kremeyer Barbara
- Kretzmer Helene
- Kreuz Markus
- Krishnamurthy Savitri
- Kube Dieter
- Kumar Kiran
- Kumar Pardeep
- Kumar Sushant
- Kumar Yogesh
- Kundra Ritika
- Kübler Kirsten
- Küppers Ralf
- Lagergren Jesper
- Lai Phillip H.
- Laird Peter W.
- Lakhani Sunil R.
- Lalansingh Christopher M.
- Lalonde Emilie
- Lamaze Fabien C.
- Lambert Adam
- Lander Eric
- Landgraf Pablo
- Landoni Luca
- Langerød Anita
- Lanzós Andrés
- Larsimont Denis
- Larson Dave
- Larsson Erik
- Lathrop Mark
- Lau Loretta M. S.
- Lawerenz Chris
- Lawlor Rita T.
- Lawrence Michael S.
- Lazar Alexander J.
- Le Xuan
- Lee Darlene
- Lee Donghoon
- Lee Eunjung Alice
- Lee Hee Jin
- Lee Jake June-Koo
- Lee Jeong-Yeon
- Lee Juhee
- Lee Ming Ta Michael
- Lee-Six Henry
- Lehmann Kjong-Van
- Lehrach Hans
- Lenze Dido
- Leonard Conrad R.
- Leongamornlert Daniel A.
- Leshchiner Ignaty
- Letaw John
- Letourneau Louis
- Letunic Ivica
- Levine Douglas A.
- Lewis Lora
- Ley Tim
- Li Chang
- Li Constance H.
- Li Haiyan Irene
- Li Jun
- Li Lin
- Li Shantao
- Li Siliang
- Li Xiaobo
- Li Xiaotong
- Li Xinyue
- Li Yilong
- Liang Han
- Liang Sheng-Ben
- Liang Wen-Wei
- Lichter Peter
- Lin Pei
- Lin Ziao
- Linehan W. M.
- Lingjærde Ole Christian
- Liu Dongbing
- Liu Eric Minwei
- Liu Fei-Fei
- Liu Fenglin
- Liu Jia
- Liu Xingmin
- Livingstone Julie
- Livitz Dimitri
- Livni Naomi
- Lochovsky Lucas
- Loeffler Markus
- Long Georgina V.
- Lopez-Guillermo Armando
- Lou Shaoke
- Louis David N.
- Lovat Laurence B.
- Lu Yiling
- Lu Yong-Jie
- Lu Youyong
- Luchini Claudio
- Lungu Ilinca
- Luo Xuemei
- Luxton Hayley J.
- Lynch Andy G.
- Lype Lisa
- López Cristina
- López-Otín Carlos
- Ma Eric Z.
- Ma Singer
- Ma Yussanne
- MacGrogan Gaetan
- Macintyre Geoff
- MacRae Shona
- Madsen Tobias
- Maejima Kazuhiro
- Mafficini Andrea
- Maglinte Dennis T.
- Maitra Arindam
- Majumder Partha P.
- Malcovati Luca
- Malikic Salem
- Malleo Giuseppe
- Mann Graham J.
- Mantovani-Löffler Luisa
- Marchal Kathleen
- Marchegiani Giovanni
- Mardis Elaine R.
- Margolin Adam A.
- Marin Maximillian G.
- Markowetz Florian
- Markowski Julia
- Marks Jeffrey
- Marques-Bonet Tomas
- Marra Marco A.
- Marsden Luke
- Martens John W. M.
- Martin Sancha
- Martin-Subero Jose I.
- Martincorena Iñigo
- Martinez-Fundichely Alexander
- Maruvka Yosef E.
- Mashl R. Jay
- Massie Charlie E.
- Matthew Thomas J.
- Matthews Lucy
- Mayer Erik
- Mayes Simon
- Mayo Michael
- Mbabaali Faridah
- McCune Karen
- McDermott Ultan
- McGillivray Patrick D.
- McLellan Michael D.
- McPherson John D.
- McPherson John R.
- McPherson Treasa A.
- Meier Samuel R.
- Men Yifei
- Meng Alice
- Meng Shaowu
- Menzies Andrew
- Merrett Neil D.
- Merson Sue
- Meyerson Matthew
- Meyerson William U.
- Mieczkowski Piotr A.
- Mihaiescu George L.
- Mijalkovic Sanja
- Mijalkovic-Lazic Ana Mijalkovic
- Mikkelsen Tom
- Milella Michele
- Mileshkin Linda
- Miller Christopher A.
- Miller David K.
- Miller Jessica K.
- Mills Gordon B.
- Milovanovic Ana
- Minner Sarah
- Miotto Marco
- Mirabello Lisa
- Mitchell Chris
- Mitchell Thomas J.
- Miyano Satoru
- Miyoshi Naoki
- Mizuno Shinichi
- Molnár-Gábor Fruzsina
- Moore Malcolm J.
- Moore Richard A.
- Morganella Sandro
- Morris Quaid D.
- Morrison Carl
- Mose Lisle E.
- Moser Catherine D.
- Muiños Ferran
- Mularoni Loris
- Mungall Andrew J.
- Mungall Karen
- Musgrove Elizabeth A.
- Mustonen Ville
- Mutch David
- Muyas Francesc
- Muzny Donna M.
- Muñoz Alfonso
- Myers Jerome
- Myklebost Ola
- Möller Peter
- Nagae Genta
- Nagrial Adnan M.
- Nahal-Bose Hardeep K.
- Nakagama Hitoshi
- Nakagawa Hidewaki
- Nakamura Hiromi
- Nakamura Toru
- Nakano Kaoru
- Nandi Tannistha
- Nangalia Jyoti
- Nastic Mia
- Navarro Arcadi
- Navarro Fabio C. P.
- Neal David E.
- Nettekoven Gerd
- Newell Felicity
- Newhouse Steven J.
- Newton Yulia
- Ng Alvin Wei Tian
- Ng Anthony
- Nicholson Jonathan
- Nicol David
- Nie Yongzhan
- Nielsen G. Petur
- Nielsen Morten Muhlig
- Nik-Zainal Serena
- Niu Beifang
- Noble Michael S.
- Nones Katia
- Northcott Paul A.
- Notta Faiyaz
- Ocana David
- Ochoa Angelica
- Oesper Layla
- Ogden Christopher
- Ohdan Hideki
- Ohi Kazuhiro
- Ohno-Machado Lucila
- Oien Karin A.
- Ojesina Akinyemi I.
- Ojima Hidenori
- Okusaka Takuji
- Omberg Larsson
- Ong Choon Kiat
- Ossowski Stephan
- Ott German
- Ouellette B. F. Francis
- O’Connor Brian D.
- O’Donnell Peter
- O’Donovan Maria
- O’Meara Sarah
- O’Neill Brian Patrick
- O’Neill J. Robert
- Paczkowska Marta
- Paiella Salvatore
- Pairojkul Chawalit
- Pajic Marina
- Pan-Hammarström Qiang
- Papaemmanuil Elli
- Papatheodorou Irene
- Paramasivam Nagarajan
- Park Ji Wan
- Park Joong-Won
- Park Keunchil
- Park Kiejung
- Park Peter J.
- Parker Joel S.
- Parsons Simon L.
- Pass Harvey
- Pasternack Danielle
- Pastore Alessandro
- Patch Ann-Marie
- Pauporté Iris
- Pea Antonio
- Pearson John V.
- Pedamallu Chandra Sekhar
- Pedersen Jakob Skou
- Pederzoli Paolo
- Peifer Martin
- Pennell Nathan A.
- Perou Charles M.
- Perry Marc D.
- Petersen Gloria M.
- Peto Myron
- Petrelli Nicholas
- Petryszak Robert
- Pfister Stefan M.
- Phillips Mark
- Pich Oriol
- Pickett Hilda A.
- Pihl Todd D.
- Pillay Nischalan
- Pinder Sarah
- Pinese Mark
- Pinho Andreia V.
- Pitkänen Esa
- Pivot Xavier
- Piñeiro-Yáñez Elena
- Planko Laura
- Plass Christoph
- Polak Paz
- Pons Tirso
- Popescu Irinel
- Potapova Olga
- Prasad Aparna
- Preston Shaun R.
- Prinz Manuel
- Pritchard Antonia L.
- Prokopec Stephenie D.
- Provenzano Elena
- Puente Xose S.
- Puig Sonia
- Puiggròs Montserrat
- Pulido-Tamayo Sergio
- Pupo Gulietta M.
- Purdie Colin A.
- P’ng Christine
- Quinn Michael C.
- Rabionet Raquel
- Radenbaugh Amie
- Rader Janet S.
- Radlwimmer Bernhard
- Radovic Petar
- Raeder Benjamin
- Raghavan K. Vijay
- Raine Keiran M.
- Ramakrishna Manasa
- Ramakrishnan Kamna
- Ramalingam Suresh
- Raphael Benjamin J.
- Rathmell W. Kimryn
- Rausch Tobias
- Reifenberger Guido
- Reimand Jüri
- Reis-Filho Jorge
- Reuter Victor
- Reyes-Salazar Iker
- Reyna Matthew A.
- Reynolds Sheila M.
- Rheinbay Esther
- Riazalhosseini Yasser
- Richardson Andrea L.
- Richter Julia
- Ringel Matthew
- Ringnér Markus
- Rino Yasushi
- Rippe Karsten
- Roach Jeffrey
- Roberts Lewis R.
- Roberts Nicola D.
- Roberts Steven A.
- Robertson A. Gordon
- Robertson Alan J.
- Rodriguez Javier Bartolomé
- Rodriguez-Martin Bernardo
- Rodríguez-González F. Germán
- Roehrl Michael H. A.
- Rohde Marius
- Rokutan Hirofumi
- Romieu Gilles
- Rooman Ilse
- Roques Tom
- Rosebrock Daniel
- Rosenberg Mara
- Rosenstiel Philip C.
- Rosenwald Andreas
- Rowe Edward W.
- Royo Romina
- Rozen Steven G.
- Rubanova Yulia
- Rubin Mark A.
- Rubio-Perez Carlota
- Rudneva Vasilisa A.
- Rusev Borislav C.
- Ruzzenente Andrea
- Rätsch Gunnar
- Sabarinathan Radhakrishnan
- Sabelnykova Veronica Y.
- Sadeghi Sara
- Sahinalp S. Cenk
- Saini Natalie
- Saito-Adachi Mihoko
- Saksena Gordon
- Salcedo Adriana
- Salgado Roberto
- Salichos Leonidas
- Sallari Richard
- Saller Charles
- Salvia Roberto
- Sam Michelle
- Samra Jaswinder S.
- Sanchez-Vega Francisco
- Sander Chris
- Sanders Grant
- Sarin Rajiv
- Sarrafi Iman
- Sasaki-Oku Aya
- Sauer Torill
- Sauter Guido
- Saw Robyn P. M.
- Scardoni Maria
- Scarlett Christopher J.
- Scarpa Aldo
- Scelo Ghislaine
- Schadendorf Dirk
- Schein Jacqueline E.
- Schilhabel Markus B.
- Schlesner Matthias
- Schlomm Thorsten
- Schmidt Heather K.
- Schramm Sarah-Jane
- Schreiber Stefan
- Schultz Nikolaus
- Schumacher Steven E.
- Schwarz Roland F.
- Scolyer Richard A.
- Scott David
- Scully Ralph
- Seethala Raja
- Segre Ayellet V.
- Selander Iris
- Semple Colin A.
- Senbabaoglu Yasin
- Sengupta Subhajit
- Sereni Elisabetta
- Serge Serge
- Serra Stefano
- Sgroi Dennis C.
- Shackleton Mark
- Shah Nimish C.
- Shahabi Sagedeh
- Shang Catherine A.
- Shang Ping
- Shapira Ofer
- Shelton Troy
- Shen Ciyue
- Shen Hui
- Shepherd Rebecca
- Shi Ruian
- Shi Yan
- Shiah Yu-Jia
- Shibata Tatsuhiro
- Shih Juliann
- Shimizu Eigo
- Shimizu Kiyo
- Shin Seung Jun
- Shiraishi Yuichi
- Shmaya Tal
- Shmulevich Ilya
- Shorser Solomon I.
- Short Charles
- Shrestha Raunak
- Shringarpure Suyash S.
- Shriver Craig
- Shuai Shimin
- Sidiropoulos Nikos
- Siebert Reiner
- Sieuwerts Anieta M.
- Sieverling Lina
- Signoretti Sabina
- Sikora Katarzyna O.
- Simbolo Michele
- Simon Ronald
- Simons Janae V.
- Simpson Jared T.
- Simpson Peter T.
- Singer Samuel
- Sinnott-Armstrong Nasa
- Sipahimalani Payal
- Skelly Tara J.
- Smid Marcel
- Smith Jaclyn
- Smith-McCune Karen
- Socci Nicholas D.
- Sofia Heidi
- Sofia Heidi J.
- Soloway Matthew G.
- Song Lei
- Sood Anil K.
- Sothi Sharmila
- Sotiriou Christos
- Soulette Cameron M.
- Span Paul N.
- Spellman Paul T.
- Sperandio Nicola
- Spillane Andrew J.
- Spiro Oliver
- Spring Jonathan
- Staaf Johan
- Stadler Peter F.
- Staib Peter
- Stark Stefan G.
- Stebbings Lucy
- Stefánsson Ólafur Andri
- Stegle Oliver
- Stein Lincoln D.
- Stenhouse Alasdair
- Stewart Chip
- Stilgenbauer Stephan
- Stobbe Miranda D.
- Stratton Michael R.
- Stretch Jonathan R.
- Struck Adam J.
- Stuart Joshua M.
- Stunnenberg Henk G.
- Su Hong
- Su Xiaoping
- Sun Ren X.
- Sungalee Stephanie
- Susak Hana
- Suzuki Akihiro
- Sweep Fred
- Szczepanowski Monika
- Sültmann Holger
- Tam Angela
- Tamborero David
- Tan Benita Kiat Tee
- Tan Donghui
- Tan Patrick
- Tanaka Hiroko
- Taniguchi Hirokazu
- Tanskanen Tomas J.
- Tarabichi Maxime
- Tarnuzzer Roy
- Tarpey Patrick
- Taschuk Morgan L.
- Tatsuno Kenji
- Tavaré Simon
- Taylor Darrin F.
- Taylor-Weiner Amaro
- Teague Jon W.
- Teh Bin Tean
- Tembe Varsha
- Temes Javier
- Thai Kevin
- Thayer Sarah P.
- Thiessen Nina
- Thomas Gilles
- Thomas Sarah
- Thompson Alan
- Thompson Alastair M.
- Thompson John F.
- Thompson R. Houston
- Thorne Heather
- Thorne Leigh B.
- Thorogood Adrian
- Tiao Grace
- Tijanic Nebojsa
- Timms Lee E.
- Tirabosco Roberto
- Tojo Marta
- Tommasi Stefania
- Toon Christopher W.
- Toprak Umut H.
- Torrents David
- Tortora Giampaolo
- Tost Jörg
- Totoki Yasushi
- Townend David
- Traficante Nadia
- Treilleux Isabelle
- Trotta Jean-Rémi
- Trümper Lorenz H. P.
- Tsao Ming
- Tsunoda Tatsuhiko
- Tubio Jose M. C.
- Tucker Olga
- Turkington Richard
- Turner Daniel J.
- Tutt Andrew
- Ueno Masaki
- Ueno Naoto T.
- Umbricht Christopher
- Umer Husen M.
- Underwood Timothy J.
- Urban Lara
- Urushidate Tomoko
- Ushiku Tetsuo
- Uusküla-Reimand Liis
- Valencia Alfonso
- van As Nicholas
- van de Vijver Marc J.
- Van Den Berg David J.
- Van den Eynden Gert G.
- Van der Kwast Theodorus
- van Deurzen Carolien H. M.
- Van Laere Steven
- Van Loo Peter
- Van Meir Erwin G.
- van’t Veer L.
- Vasudev Naveen
- Vazquez Miguel
- Vedururu Ravikiran
- Veluvolu Umadevi
- Vembu Shankar
- Verbeke Lieven P. C.
- Vermeulen Peter
- Verrill Clare
- Viari Alain
- Vicente David
- Vicentini Caterina
- Viksna Juris
- Vilain Ricardo E.
- Villasante Izar
- Vincent-Salomon Anne
- Visakorpi Tapio
- Voet Douglas
- von Kalle Christof
- von Mering Christian
- Vyas Paresh
- Vázquez-García Ignacio
- Waddell Nick M.
- Waddell Nicola
- Wadelius Claes
- Wadi Lina
- Wagener Rabea
- Wala Jeremiah A.
- Wang Jian
- Wang Jiayin
- Wang Liang-Bo
- Wang Linghua
- Wang Qi
- Wang Wenyi
- Wang Yumeng
- Wang Zhining
- Waring Paul M.
- Warnatz Hans-Jörg
- Warrell Jonathan
- Warren Anne Y.
- Waszak Sebastian M.
- Wedge David C.
- Weerasinghe Amila
- Weichenhan Dieter
- Weinberger Paul
- Weinstein John N.
- Weischenfeldt Joachim
- Weisenberger Daniel J.
- Welch Ian
- Wendl Michael C.
- Werner Johannes
- Whalley Justin P.
- Wheeler David A.
- Whitaker Hayley C.
- Wigle Dennis
- Wilkerson Matthew D.
- Williams Ashley
- Wilmott James S.
- Wilson Gavin W.
- Wilson Julie M.
- Wilson Richard K.
- Winterhoff Boris
- Wintersinger Jeffrey A.
- Wiznerowicz Maciej
- Wolf Stephan
- Wong Bernice H.
- Wong Christopher K.
- Wong Tina
- Wong Winghing
- Woo Youngchoon
- Wood Scott
- Wouters Bradly G.
- Wright Adam J.
- Wright Derek W.
- Wright Mark H.
- Wu Chin-Lee
- Wu Dai-Ying
- Wu Guanming
- Wu Jianmin
- Wu Kui
- Wu Yang
- Wu Zhenggang
- Xi Liu
- Xia Tian
- Xiang Qian
- Xiao Xiao
- Xing Rui
- Xiong Heng
- Xu Qinying
- Xu Yanxun
- Xue Hong
- Yachida Shinichi
- Yakneen Sergei
- Yamaguchi Rui
- Yamaguchi Takafumi N.
- Yamamoto Masakazu
- Yamamoto Shogo
- Yamaue Hiroki
- Yang Fan
- Yang Huanming
- Yang Jean Y.
- Yang Liming
- Yang Lixing
- Yang Shanlin
- Yang Tsun-Po
- Yang Yang
- Yao Xiaotong
- Yaspo Marie-Laure
- Yates Lucy
- Yau Christina
- Ye Chen
- Ye Kai
- Yellapantula Venkata D.
- Yoon Christopher J.
- Yoon Sung-Soo
- Yousif Fouad
- Yu Jun
- Yu Kaixian
- Yu Willie
- Yu Yingyan
- Yuan Ke
- Yuan Yuan
- Yuen Denis
- Yugawa Takashi
- Yung Christina K.
- Zaikova Olga
- Zamora Jorge
- Zapatka Marc
- Zenklusen Jean C.
- Zenz Thorsten
- Zeps Nikolajs
- Zhang Cheng-Zhong
- Zhang Fan
- Zhang Hailei
- Zhang Hongwei
- Zhang Hongxin
- Zhang Jiashan
- Zhang Jing
- Zhang Junjun
- Zhang Xiuqing
- Zhang Xuanping
- Zhang Yan
- Zhang Zemin
- Zhao Zhongming
- Zheng Liangtao
- Zheng Xiuqing
- Zhou Wanding
- Zhou Yong
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- Nature Communications
- Publication date
- 21/09/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts