10 research outputs found
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
- Author
- AJ Kim
- Ajith Kumar
- Alejandro Sifrim
- AM Alazami
- Angela F Brady
- Audrey Smith
- BB de Vries
- C Leroy
- Caroline F Wright
- Cecilia W Lo
- CF Wright
- Charu Deshpande
- Chris Lelliott
- D Smedley
- Daniel King
- David R FitzPatrick
- Deborah Osio
- DG MacArthur
- Diana Rajan
- Dominic McMullan
- E Ryder
- EF Pettersen
- Elena Prigmore
- Elisabeth Rosser
- Emma Hobson
- Esti Yeger-Lotem
- F Bangs
- F Faletra
- FS Van Dijk
- Ganesh J Swaminathan
- George Gabriel
- H Li
- H Li
- H Najmabadi
- Helen V Firth
- J Harrow
- James Whitworth
- Jeffrey C Barrett
- Jenny Lord
- Jeremy McRae
- JK White
- JM Shinwari
- Judith Goodship
- K Ahokas
- K Szymanska
- L Musante
- LP Lim
- M Kvarnung
- M Nakashima
- M Scheffner
- MA DePristo
- Mary O'Regan
- Matthew E Hurles
- Meena Balasubramanian
- Melissa Lees
- MG Davey
- Moira Blyth
- Morad Ansari
- NA Akawi
- NA Karp
- Nadia Akawi
- Nicola Foulds
- Nikolai Klena
- Peter Turnpenny
- Richard Francis
- S De Rubeis
- S Köhler
- SD Brown
- Sebastian S Gerety
- Shelagh Joss
- SR Williams
- Stephen Clayton
- T Zemojtel
- Tomas W Fitzgerald
- Trevor Cole
- Virginia Piombo
- W McLaren
- WC Skarnes
- Wendy D Jones
- X Liu
- Y Feng
- Y Li
- Publication venue
- Nat Genet
- Publication date
- 01/01/2015
- Field of study
Discovery of most autosomal recessive disease-associated genes has involved analysis of large, often consanguineous multiplex families or small cohorts of unrelated individuals with a well-defined clinical condition. Discovery of new dominant causes of rare, genetically heterogeneous developmental disorders has been revolutionized by exome analysis of large cohorts of phenotypically diverse parent-offspring trios. Here we analyzed 4,125 families with diverse, rare and genetically heterogeneous developmental disorders and identified four new autosomal recessive disorders. These four disorders were identified by integrating Mendelian filtering (selecting probands with rare, biallelic and putatively damaging variants in the same gene) with statistical assessments of (i) the likelihood of sampling the observed genotypes from the general population and (ii) the phenotypic similarity of patients with recessive variants in the same candidate gene. This new paradigm promises to catalyze the discovery of novel recessive disorders, especially those with less consistent or nonspecific clinical presentations and those caused predominantly by compound heterozygous genotypes
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
- Author
- Adlard Julian
- Ahmed Munaza
- Aich Anshul
- Aitman Tim
- Alachkar Hana
- Alle Hana Lango
- Allsup David
- Almeida-King Jeff
- Ambrose J. C.
- Amin Aliya S.
- Ancliff Philip
- Antrobus Richard
- Armstrong Ruth
- Arno Gavin
- Arumugam P.
- Ashford Sofie
- Astle William
- Attwood Anthony
- Babbs Chris
- Bakchoul Tamam
- Bariana Tadbir
- Barwell Julian
- Bennett David
- Bentley David
- Bevers R.
- Bierzynska Agnieszka
- Biss Tina
- Bleda M.
- Bleda Marta
- Boardman-Pretty F.
- Bogaard Harm
- Bourne Christian
- Boustred C. R.
- Boyce Sara
- Bradley John
- Breen Gerome
- Brennan Paul
- Brewer Carole
- Brittain H.
- Brod Naomi Clements
- Brown M. A.
- Brown Matthew
- Browning Michael
- Buchan Rachel
- Buckland Matthew
- Bueser Teofila
- Burns Siobhan
- Burren Oliver
- Calleja Paul
- Carr-White Gerald
- Carss Keren
- Casey Ruth
- Caulfield M. J.
- Caulfield Mark
- Cebola Inês
- Chambers Jennifer
- Chambers Jenny
- Chambers John
- Chan G. C.
- Chan Melanie M. Y.
- Cheng Floria
- Chinnery Patrick F.
- Christian Martin
- Church Colin
- Coghlan Gerry
- Colby Elizabeth
- Cole Trevor
- Collins Janine
- Collins Peter
- Colombo Camilla
- Condliffe Robin
- Cook Stuart
- Cook Terry
- Cooley Sharon
- Cooper Nichola
- Corris Paul
- Crisp-Hihn Abigail
- Curry Nicola
- Danesino Cesare
- Daniels Matthew
- Daugherty Louise
- Davis John
- Deevi Sri V. V.
- Dent Timothy
- Dewhurst Eleanor
- Dixon Peter
- Dixon Peter H.
- Donnelly Jennifer
- Downes Kate
- Drazyk Anna
- Drewe Elizabeth
- Dutt Tina
- Edgar David
- Edwards Karen
- Egner William
- Erber Wendy
- Erwood Marie
- Estiu Maria C.
- Estiu Maria Cecilia
- Evans Dafydd Gareth
- Evans Gillian
- Everington Tamara
- Eyries Mélanie
- Favier Remi
- Fletcher Debra
- Fowler T.
- Fox James
- Frary Amy
- French Courtney
- Freson Kathleen
- Frontini Mattia
- Gale Daniel
- Gale Daniel P.
- Gall Henning
- Geary Michael
- Geoghegan Claire
- Gerighty Terry
- Ghio Stefano
- Ghofrani Hossein-Ardeschir
- Gibbs Simon
- Giess A.
- Gilmour Kimberley
- Girerd Barbara
- Goddard Sarah
- Gomez Keith
- Gordins Pavels
- Gosal David
- Grassi Luigi
- Greene Daniel
- Greenhalgh Lynn
- Greinacher Andreas
- Gresele Paolo
- Griffiths Philip
- Grigoriadou Sofia
- Grocock Russell
- Grozeva Detelina
- Gräf Stefan
- Hackett Scott
- Hadinnapola Charaka
- Hague William
- Hague William M.
- Haimel Matthias
- Hall Matthew
- Hamblin A.
- Hanson Helen
- Harkness Kirsty
- Harper Andrew
- Harris Claire
- Hart Daniel
- Hassan Ahamad
- Hayman Grant
- Henderson Alex
- Henderson S.
- Hoffmann Jonathan
- Horvath Rita
- Houweling Arjan
- Howard Luke
- Hu Fengyuan
- Hubbard T. J. P.
- Hudson Gavin
- Hughes Joseph
- Huissoon Aarnoud
- Humbert Marc
- Humphray Sean
- Hunter Sarah
- Hurles Matthew
- Izatt Louise
- Jackson R.
- James Roger
- Johnson Sally
- Jolles Stephen
- Jolley Jennifer
- Jones L. J.
- Jurkute Neringa
- Kasanicki Mary
- Kasperaviciute D.
- Kayikci M.
- Kazkaz Hanadi
- Kazmi Rashid
- Kelleher Peter
- Kiely David
- Kingston Nathalie
- Klima Robert
- Kostadima Myrto
- Kousathanas A.
- Kovacs Gabor
- Koziell Ania
- Kreuzhuber Roman
- Kuijpers Taco
- Kumar Ajith
- Kumararatne Dinakantha
- Kuria Manju
- Laffa Michael
- Lahnstein L.
- Lalloo Fiona
- Lamber Michele
- Lawrie Allan
- Layton Mark
- Leigh S. E. A.
- Lentaigne Claire
- Leong I. U. S.
- Levine Adam
- Levine Adam P.
- Linger Rachel
- Longhurst Hilary
- Lopez F. J.
- Louka Eleni
- Madan Bella
- Maher Eamonn
- Maimaris Jesmeen
- Maleady-Crowe F.
- Mangles Sarah
- Mapeta Rutendo
- Marchbank Kevin
- Marks Stephen
- Markus Hugh S.
- Marschall Hanns-Ulrich
- Marshall Andrew
- Martin Jennifer
- Mathias Mary
- Matthews Emma
- Maude Hannah
- Maxwell Heather
- McAlinden Paul
- McCarthy Mark
- McEntagart M.
- Meacham Stuart
- Mead Adam
- Megy Karyn
- Mehta Sarju
- Michaelides Michel
- Millar Carolyn
- Minneci F.
- Mitchell Alice L.
- Moledina Shahin
- Montani David
- Moor Tony
- Morrell Nicholas
- Moutsianas L.
- Mozere Monika
- Mueller M.
- Muir Keith
- Mumford Andrew
- Murugaesu N.
- Need A. C.
- Newnham Michael
- Nicolaides Kypros
- Noordegraaf Anton Vonk
- O'Donovan P.
- O'Sullivan Jennifer
- Obaji Samya
- Odhams C. A.
- Okoli Steven
- Olschewski Andrea
- Olschewski Horst
- Ong Kai Ren
- Ormondroy Elizabeth
- Ouwehan Willem
- Papadi Sofia
- Park Soo-Mi
- Parry David
- Patch C.
- Paterson Joan
- Peacock Andrew
- Peden John
- Peerlinck Kathelijne
- Penkett Christopher
- Pepke-Zaba Joanna
- Pereira M. B.
- Perez-Gil D.
- Petersen Romina
- Pullinger J.
- Pyle Angela
- Rahim T.
- Rankin Stuart
- Rao Anupama
- Raymond F. Lucy
- Rayner-Matthew Paula
- Rees Christine
- Rendon A.
- Rendon Augusto
- Renton Tara
- Rice Andrew
- Richardson Sylvia
- Richter Alex
- Roberts Irene
- Rogers T.
- Ross Robert MacKenzie
- Roughley Catherine
- Roy Noemi
- Sadeghi-Alavijeh Omid
- Saleem Moin
- Samani Nilesh
- Sanchis-Juan Alba
- Sargur Ravishankar
- Satchell Simon
- Savage K.
- Savic Sinisa
- Sawant K.
- Scelsi Laura
- Schulman Sol
- Scott R. H.
- Scully Marie
- Searle Claire
- Seeger Werner
- Sewell Carrock
- Seyres Denis
- Shapiro Susie
- Sharmardina Olga
- Shtoyerman Rakefet
- Sibson Keith
- Siddiq A.
- Side Lucy
- Sieghart A.
- Simeoni Ilenia
- Simpson Michael
- Sivapalaratnam Suthesh
- Skytte Anne-Bine
- Smith Katherine
- Smith Kenneth G. C.
- Smith S. C.
- Snape Katie
- Sosinsky A.
- Soubrier Florent
- Staines Simon
- Staples Emily
- Stark Hannah
- Stephens Jonathan
- Stirrups Kathleen
- Stock Sophie
- Stuckey A.
- Suntharalingam Jay
- Swietlik Emilia
- Syngelaki Argyro
- Tait R. Campbell
- Talks Kate
- Tan Rhea
- Tanguy M.
- Taylor Tavares A. L.
- Thaventhiran James
- Themistocleous Andreas
- Thomas E. R. A.
- Thomas Moira
- Thompson S. R.
- Thomson Kate
- Thorsell Malin
- Thrasher Adrian
- Thys Chantal
- Tischkowitz Marc
- Titterton Catherine
- Toh Cheng-Hock
- Toshner Mark
- Traylor Matthew
- Treacy Carmen
- Trembath Richard
- Tucci A.
- Tuna Salih
- Turek Wojciech
- Turro Ernest
- Vale Tom
- Van Geet Chris
- Van Zuydam Natalie
- Vazquez-Lopez Marta
- von Ziegenweidt Julie
- Waisfisz Quintin
- Walker Suellen
- Ware James
- Watkins Hugh
- Watt Christopher
- Webster Andrew
- Wei Wei
- Welch Steven
- Welland M. J.
- Wessels Julie
- Westbury Sarah
- Westwood John-Paul
- Wharton John
- Whitehorn Deborah
- Whitworth James
- Wilkins Martin R.
- Williams E.
- Williamson Catherine
- Witkowska K.
- Wong Edwin
- Wood Nicholas
- Wood S. M.
- Wood Yvette
- Woods Geoff
- Woodward Emma
- Wort Stephen
- Worth Austen
- Yates Katherine
- Yong Patrick
- Young Tim
- Yu Ping
- Yu-Wai-Man Patrick
- Zhang Jun
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 17/08/2022
- Field of study
Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma
- Author
- Armstrong Ruth
- Atkinson A. Brew
- Aylwin Simon
- Ball Steve G.
- Barwell Julian
- Brennan Paul
- Brewer Carole
- Canham Natalie
- Chew Shern L.
- Cole Trevor R.
- Cook Jackie
- Donaldson Alan
- Evans Dafydd Gareth R.
- Hodgson Shirley V.
- Irving Richard
- Izatt Louise
- Jafri Mariam
- Kilby Gail
- Kumar Ajith V.
- Lalloo Fiona
- Macdonald Fiona
- Maher Eamonn R.
- Morrison Patrick J.
- Rattenberry Eleanor
- Srirangalingam Umasuthan
- Tomkins Susan
- Vialard Lindsey
- Whitworth James
- Woodward Emma
- Publication venue
- 'Wiley'
- Publication date
- 06/04/2013
- Field of study
Creditor Protection in the Corporate Group
- Author
- . L Harv
- A Muscat
- App
- Art
- B Knight
- Bgh Njw
- Bgh Zip
- Brady Brady V
- Brady Brady V
- Brian R Cheffins
- Bruno Kropff
- Charles D Drake
- Cheong A Png
- Dan D
- Dan D Prentice
- Dan D Prentice
- Dan D Prentice
- Dan D Prentice
- Dan D Prentice
- Dan D Prentice
- David Milman
- De Kluiver
- Dkg Contractors Re
- Drake
- Eddy Wymeersch
- Eike Bicker
- Eike T. Bicker
- Emmerich
- Ferran
- Fidelis Oditah
- Forum Europaeum Konzernrecht
- Frank H Easterbrook
- Frank Wooldridge
- Frank Wooldridge
- Gautam Bhattacharyya
- Gerald Spindler
- German
- Gower Davies
- Group Prentice
- Horst Eidenm�ller
- Horst Eidenm�ller
- Hugh Collins
- Ian M Ramsey
- Insolvency Goode
- Jameel Mokal
- John Armour
- John H Farrar
- Jonathan Rickford
- Jos� Miguel Irujo
- K Schmidt
- Karsten Schmidt
- Klaus J Hopt
- Lynn M Lopocki
- Marcus Lutter
- Mathias Siems
- Maximilian Schiessel
- Milman
- Modernising Company Law
- Muscat
- Muscat
- Nigel J Doran
- Oditah
- Oilver E Williamson
- Patrick Atiyah
- Paul J Omar
- Paul J Omar
- Paul L Davies
- Paul L Davies
- Paul L Davies
- Permakraft Nicholson V
- Permakraft Nicholson V
- Peter Behrens
- Peter Burbidge
- Peter Kindler
- Peter Kindler
- Peter M�lbert
- Peter T Muchlinski
- Peter Ulmer
- Prentice
- Re Mc Bacon
- Reginald S Nock
- Richard A Posner
- Richard A Posner
- Richard A Posner
- Richard Schulte
- Richard Schulte
- Robert C Clark
- S
- S
- Sabine Ebert
- Thomas Bachner
- Thomas H Jackson
- Timothy E Cooke
- Tobias H Tr�ger
- Torsten Koller
- Trevor V Whitworth
- Vanessa Finch
- Volker Emmerich
- Walther Eucken
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2006
- Field of study
Whole-genome sequencing of patients with rare diseases in a national health system
- Author
- Abbs Stephen
- Abulhoul Lara
- Adlard Julian
- Ahmed Munaza
- Aitman Timothy J.
- Aitman Timothy J.
- Alachkar Hana
- Allen Hana Lango
- Allen Hana Lango
- Allsup David J.
- Almeida-King Jeff
- Ancliff Philip
- Antrobus Richard
- Armstrong Ruth
- Arno Gavin
- Ashford Sofie
- Ashford Sofie
- Astle William J.
- Astle William J.
- Attwood Anthony
- Aurora Paul
- Babbs Christian
- Bacchelli Chiara
- Bakchoul Tamam
- Banka Siddharth
- Bariana Tadbir
- Barwell Julian
- Batista Joana
- Baxendale Helen E.
- Beales Phil L.
- Bennett David L.
- Bennett David L.
- Bentley David R.
- Bentley David R.
- Bierzynska Agnieszka
- Biss Tina
- Bitner-Glindzicz Maria A.K.
- Black Graeme C.
- Bleda Marta
- Blesneac Iulia
- Bockenhauer Detlef
- Bogaard Harm
- Bourne Christian J.
- Boyce Sara
- Bradley John R.
- Bradley John R.
- Bragin Eugene
- Breen Gerome
- Brennan Paul
- Brewer Carole
- Brod Naomi Clements
- Brown Matthew
- Browning Andrew C.
- Browning Michael J.
- Buchan Rachel J.
- Buckland Matthew S.
- Bueser Teofila
- Burn John
- Burns Siobhan O.
- Burren Oliver S.
- Burren Oliver S.
- Burrows Nigel
- Calleja Paul
- Calleja Paul
- Campbell Carolyn
- Carr-White Gerald
- Carss Keren
- Carss Keren
- Casey Ruth
- Castello Ignacio Medina
- Caulfield Mark J.
- Caulfield Mark J.
- Chambers Jenny
- Chambers John
- Chan Melanie M.Y.
- Cheah Calvin
- Cheng Floria
- Chinnery Patrick F.
- Chinnery Patrick F.
- Chitre Manali
- Christian Martin T.
- Church Colin
- Clayton-Smith Jill
- Cleary Maureen
- Coghlan Gerry
- Colby Elizabeth
- Cole Trevor R.P.
- Collins Janine
- Collins Peter W.
- Colombo Camilla
- Compton Cecilia J.
- Condliffe Robin
- Cook H. Terence
- Cook Stuart
- Cooper Nichola
- Corris Paul A A.
- Cunningham Fiona
- Curry Nicola S.
- Cutler Antony J.
- Daniels Matthew J.
- Dattani Mehul
- Daugherty Louise C.
- Davis John
- De Soyza Anthony
- Deevi Sri V.V.
- Deevi Sri V.V.
- Dent Timothy
- Deshpande Charu
- Dewhurst Eleanor F.
- Dixon Peter H.
- Dixon Peter H.
- Diz Carmen Bugarin
- Douzgou Sofia
- Downes Kate
- Downes Kate
- Drazyk Anna M.
- Drewe Elizabeth
- Duarte Daniel
- Dutt Tina
- Edgar J. David M.
- Edwards Karen
- Egner William
- Ekani Melanie N.
- Elliott Perry
- Erber Wendy N.
- Erwood Marie
- Estiu Maria C.
- Evans Dafydd Gareth
- Evans Gillian
- Everington Tamara
- Eyries Mélanie
- Fassihi Hiva
- Favier Remi
- Findhammer Jack
- Fletcher Debra
- Flinter Frances A.
- Floto R. Andres
- Fowler Tom
- Fox James
- Frary Amy J.
- French Courtney E.
- Freson Kathleen
- Freson Kathleen
- Frontini Mattia
- Frontini Mattia
- Furnell Abigail
- Gale Daniel P.
- Gale Daniel P.
- Gall Henning
- Ganesan Vijeya
- Gattens Michael
- Geet Chris Van
- Geoghegan Claire
- Gerighty Terence S.A.
- Gharavi Ali G.
- Ghio Stefano
- Ghofrani Hossein Ardeschir
- Gibbs J. Simon R.
- Gibson Kate
- Gilmour Kimberly C.
- Girerd Barbara
- Gleadall Nicholas S.
- Goddard Sarah
- Goldstein David B.
- Gomez Keith
- Gordins Pavels
- Gosal David
- Graham Jodie
- Grassi Luigi
- Greene Daniel
- Greene Daniel
- Greenhalgh Lynn
- Greinacher Andreas
- Gresele Paolo
- Griffiths Philip
- Grigoriadou Sofia
- Grocock Russell J.
- Grozeva Detelina
- Gräf Stefan
- Gräf Stefan
- Gurnell Mark
- Hackett Scott
- Hadinnapola Charaka
- Hague Rosie
- Hague William M.
- Haimel Matthias
- Haimel Matthias
- Hall Matthew
- Hanson Helen L.
- Haque Eshika
- Harkness Kirsty
- Harper Andrew R.
- Harris Claire L L.
- Hart Daniel
- Hassan Ahamad
- Hayman Grant
- Henderson Alex
- Herwadkar Archana
- Hoffman Jonathan
- Holden Simon
- Horvath Rita
- Houlden Henry
- Houweling Arjan C C.
- Howard Luke S.
- Hu Fengyuan
- Hudson Gavin
- Hughes Joseph
- Huissoon Aarnoud P.
- Humbert Marc
- Humphray Sean
- Humphray Sean
- Hunter Sarah
- Hurles Matthew
- Irving Melita
- Izatt Louise
- James Roger
- James Roger
- Johnson Sally A.
- Jolles Stephen
- Jolley Jennifer
- Josifova Dragana
- Jurkute Neringa
- Karten Johannes
- Karten Tim
- Kasanicki Mary A.
- Kazkaz Hanadi
- Kazmi Rashid
- Kelleher Peter
- Kelly Anne M.
- Kelsall Wilf
- Kempster Carly
- Kiely David G.
- Kingston Nathalie
- Kingston Nathalie
- Klima Robert
- Koelling Nils
- Kostadima Myrto
- Kovacs Gabor
- Koziell Ania
- Koziell Ania
- Kreuzhuber Roman
- Kuijpers Taco W.
- Kumar Ajith
- Kumararatne Dinakantha
- Kurian Manju A.
- Laffan Michael A.
- Laffan Michael A.
- Lalloo Fiona
- Lambert Michele
- Lawrie Allan
- Layton D. Mark
- Lench Nick
- Lentaigne Claire
- Lester Tracy
- Levine Adam P.
- Levine Adam P.
- Linger Rachel
- Longhurst Hilary
- Lorenzo Lorena E.
- Louka Eleni
- Lyons Paul A.
- Machado Rajiv D.
- MacKenzie Ross Robert V.
- Madan Bella
- Maher Eamonn R.
- Maher Eamonn R.
- Maimaris Jesmeen
- Malka Samantha
- Mangles Sarah
- Mapeta Rutendo
- Mapeta Rutendo
- Marchbank Kevin J.
- Marks Stephen
- Markus Hugh S.
- Markus Hugh S.
- Marschall Hanns Ulrich
- Marshall Andrew
- Martin Jennifer
- Mathias Mary
- Matthews Emma
- Maxwell Heather
- McAlinden Paul
- McCarthy Mark I.
- McKinney Harriet
- McMahon Aoife
- Meacham Stuart
- Mead Adam J.
- Megy Karyn
- Megy Karyn
- Mehta Sarju G G.
- Michaelides Michel
- Millar Carolyn
- Mohammed Shehla N.
- Moledina Shahin
- Montani David
- Moore Anthony T.
- Morales Joannella
- Morales Joannella
- Morrell Nicholas W.
- Morrell Nicholas W.
- Mozere Monika
- Muir Keith W.
- Mumford Andrew D.
- Mumford Andrew D.
- Nemeth Andrea H.
- Newman William G.
- Newnham Michael
- Noorani Sadia
- Nurden Paquita
- Obaji Samya
- Odhams Chris
- Okoli Steven
- Olschewski Andrea
- Olschewski Horst
- Ong Kai Ren
- Oram S. Helen
- Ormondroyd Elizabeth
- Ormondroyd Elizabeth
- Ouwehand Willem H.
- Ouwehand Willem H.
- O’Sullivan Jennifer
- Palles Claire
- Papadia Sofia
- Park Soo Mi
- Parry David
- Patel Smita
- Paterson Joan
- Peacock Andrew
- Pearce Simon H H.
- Peden John
- Peerlinck Kathelijne
- Penkett Christopher J.
- Penkett Christopher J.
- Pepke-Zaba Joanna
- Petersen Romina
- Pilkington Clarissa
- Poole Kenneth E.S.
- Prathalingam Radhika
- Psaila Bethan
- Pyle Angela
- Quinton Richard
- Rahman Shamima
- Rankin Stuart
- Rankin Stuart
- Rao Anupama
- Raymond F. Lucy
- Raymond F. Lucy
- Rayner-Matthews Paula J.
- Rees Christine
- Rendon Augusto
- Rendon Augusto
- Renton Tara
- Rhodes Christopher J.
- Rice Andrew S.C.
- Richardson Sylvia
- Richardson Sylvia
- Richter Alex
- Robert Leema
- Roberts Irene
- Roberts Irene
- Rogers Anthony
- Rose Sarah J.
- Ross-Russell Robert
- Roughley Catherine
- Roy Noemi B.A.
- Roy Noemi B. A
- Ruddy Deborah M.
- Sadeghi-Alavijeh Omid
- Saleem Moin A.
- Saleem Moin A.
- Samani Nilesh
- Samarghitean Crina
- Sanchis-Juan Alba
- Sanchis-Juan Alba
- Sargur Ravishankar B.
- Sarkany Robert N.
- Satchell Simon
- Savic Sinisa
- Sayer Genevieve
- Sayer John A.
- Scelsi Laura
- Schaefer Andrew M.
- Schulman Sol
- Scott Richard
- Scully Marie
- Searle Claire
- Seeger Werner
- Sen Arjune
- Sewell W. A.Carrock
- Seyres Denis
- Shah Neil
- Shamardina Olga
- Shamardina Olga
- Shapiro Susan E.
- Shaw Adam C.
- Short Patrick J.
- Sibson Keith
- Side Lucy
- Simeoni Ilenia
- Simpson Michael A A.
- Sims Matthew C.
- Sivapalaratnam Suthesh
- Smedley Damian
- Smith Katherine R.
- Smith Kenneth G.C.
- Smith Kenneth G.C.
- Snape Katie
- Soranzo Nicole
- Soubrier Florent
- Southgate Laura
- Spasic-Boskovic Olivera
- Staines Simon
- Staples Emily
- Stark Hannah
- Stark Hannah
- Stephens Jonathan
- Stephens Jonathan
- Steward Charles
- Stirrups Kathleen E.
- Stirrups Kathleen E.
- Stuckey Alex
- Suntharalingam Jay
- Swietlik Emilia M.
- Syrris Petros
- Tait R. Campbell
- Talks Kate
- Tan Rhea Y.Y.
- Tan Rhea Y.Y.
- Tate Katie
- Taylor Jenny C.
- Taylor John M.
- Thaventhiran James E.
- Themistocleous Andreas C.
- Themistocleous Andreas C.
- Thomas David
- Thomas Ellen
- Thomas Moira J.
- Thomas Patrick
- Thomson Kate
- Thrasher Adrian J.
- Thrasher Adrian J.
- Threadgold Glen
- Thys Chantal
- Thys Chantal
- Tilly Tobias
- Tischkowitz Marc
- Titterton Catherine
- Todd John A.
- Toh Cheng Hock
- Tolhuis Bas
- Tomlinson Ian P.
- Toshner Mark
- Traylor Matthew
- Treacy Carmen
- Treadaway Paul
- Trembath Richard
- Tuna Salih
- Tuna Salih
- Turek Wojciech
- Turro Ernest
- Turro Ernest
- Twiss Philip
- Vale Tom
- Vandekuilen Maarten
- Vandersteen Anthony M.
- Vazquez-Lopez Marta
- von Ziegenweidt Julie
- Vonk Noordegraaf Anton
- Wagner Annette
- Waisfisz Quinten
- Walker Neil
- Walker Neil
- Walker Suellen M.
- Walter Klaudia
- Ware James S.
- Watkins Hugh
- Watkins Hugh
- Watt Christopher
- Webster Andrew R.
- Webster Andrew R.
- Wedderburn Lucy
- Wei Wei
- Welch Steven B.
- Wessels Julie
- Westbury Sarah K.
- Westwood John Paul
- Wharton John
- Whitehorn Deborah
- Whitworth James
- Whitworth James
- Wilkie Andrew O. M
- Wilkins Martin R.
- Wilkins Martin R.
- Williamson Catherine
- Williamson Catherine
- Wilson Brian T.
- Wong Edwin K.S.
- Wood Nicholas
- Wood Yvette
- Woods Christopher Geoffrey
- Woodward Emma R R.
- Wort Stephen J.
- Worth Austen
- Wright Michael
- Yates Katherine
- Yong Patrick F.K.
- Young Timothy
- Yu Ping
- Yu-Wai-Man Patrick
- Zlamalova Eliska
- Zuydam Natalie van
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 02/07/2020
- Field of study
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)
- Author
- Abbs Stephen
- Adhya Zoe
- Adlard Julian
- Afzal Maryam
- Ahmed Irshad
- Ahmed Munaza
- Ahmed Saeed
- Aitman Timothy J.
- Alachkar Hana
- Alamelu Jayanthi
- Alikhan Raza
- Allen Carl E.
- Allen Louise
- Allsup David J.
- Alvi Arif
- Ambegaonkar Gautam
- Anantharachagan Ariharan
- Ancliff Philip
- Anderson Julie
- Antrobus Richard
- Armstrong Ruth
- Arno Gavin
- Arumugakani Gururaj
- Arya Rita
- Ashford Sofie
- Astle William J.
- Attwood Anthony
- Austin Steve
- Aydinok Yesim
- Ayub Waqar
- Babbs Christian
- Bacchelli Chiara
- Baglin Trevor
- Bakchoul Tamam
- Bariana Tadbir K.
- Barratt Jonathan
- Barwell Julian
- Baski John
- Bates Rachel W.
- Batista Joana
- Baxendale Helen E.
- Baxendale Helen E.
- Baynam Gareth
- Bennett David L.
- Bethune Claire
- Bhatnagar Neha
- Bibi Shahnaz
- Bierzynska Agnieszka
- Biss Tina
- Bitner-Glindzicz Maria A.K.
- Bleda Marta
- Blesneac Iulia
- Boardman Barbara
- Boddana Preetham
- Bogaard Harm J.
- Booth Claire
- Boschann Felix
- Boyce Sara
- Bradley John R.
- Brady Angela
- Breen Gerome
- Brennan Paul
- Brewer Carole
- Briley Annette
- Brod Naomi Clements
- Brown Matthew
- Brown Matthew
- Brown Richard
- Browning Michael J.
- Brownlie Mary
- Bryson Christine J.
- Buchan Rachel J.
- Buck Jackie
- Buckland Matthew S.
- Buckland Matthew S.
- Bueser Teofila
- Burns Siobhan O.
- Burns Siobhan O.
- Burren Oliver S.
- Burren Oliver S.
- Calleja Paul
- Carmichael Jenny
- Carr-White Gerald
- Carss Keren J.
- Casey Ruth
- Castello Ignacio Medina
- Chalmers Elizabeth
- Chambers Jenny
- Chambers John
- Chan Melanie M.Y.
- Chan Melissa V.
- Chandra Anita
- Chandra Anita
- Cheng Floria
- Chinn Ivan K.
- Chinnery Patrick F.
- Chitre Manali
- Chong Sam
- Christian Martin T.
- Church Colin
- Clement Emma M.
- Clifford Hayley
- Clowes Virginia E.
- Coghlan Gerry
- Colby Elizabeth
- Cole Trevor R.P.
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- Collins Peter W.
- Condliffe Robin
- Cook H. Terence
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- Creaser-Myers Amanda
- Crisp-Hihn Abigail
- Curry Nicola S.
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- Cutler Antony J.
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- Darby Damaris
- Daugherty Louise C.
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- Diz Carmen Bugarin
- Doffinger Rainer
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- Egner William
- Ekani Melanie N.
- El-Shanawany Tariq
- Elkhalifa Shuayb
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- Emmerson Ingrid
- Erber Wendy N.
- Erwood Marie
- Estiu Maria C.
- Evans Dafydd Gareth
- Evans Gillian
- Everington Tamara
- Eyries Mélanie
- Farmery James H.R.
- Farmery James H.R.
- Favier Remi
- Firth Helen V.
- Fitzpatrick Maggie M.
- Fletcher Debra
- Flinter Frances A.
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- Gosal David
- Graf Stefan
- Grassi Luigi
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- Griffiths Sian
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- Grozeva Detelina
- Hackett Scott J.
- Hadden Robert D.M.
- Hadeler Silvia Lucato
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- Hanson Helen L.
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- Hassan Ahamad
- Hayman Grant
- Heemskerk Johan W.M.
- Hegde Shivaram
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- Hensiek Anke
- Henskens Yvonne M.C.
- Herwadkar Archana
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- Huissoon Aarnoud P.
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- Hurles Matthew E.
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- Irvine Val
- Izatt Louise
- James Roger
- Jeevaratnam Praveen
- Johnson Mark
- Johnson Sally A.
- Jolles Stephen
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- Jones Bryony
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- Josifova Dragana
- Jurkute Neringa
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- Kasanicki Mary A.
- Kazkaz Hanadi
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- Kelleher Peter
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- Kempster Carly
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- Levine Adam P.
- Lewington Andrew J.P.
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- Longhurst Hilary
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- MacLaren Robert
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- Mahdi-Rogers Mohamed
- Maher Eamonn R.
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- Makris Mike
- Mangles Sarah
- Manson Ania
- Manzur Adnan
- Mapeta Rutendo
- Marchbank Kevin J.
- Mark Patrick B.
- Marks Stephen
- Markus Hugh S.
- Marschall Hanns Ulrich
- Marshall Andrew
- Martin Jennifer M.
- Masati Larahmie
- Mathias Mary
- Matser Vera
- Matthews Emma L.
- Maw Anna
- Maxwell Heather
- McAlinden Paul
- McCarthy Mark I.
- McDermott Elizabeth M.
- McGowan Simon J.
- McJannet Coleen
- McKinney Harriet
- Meacham Stuart
- Mead Adam J.
- Meehan Sharon
- Megy Karyn
- Megy Karyn
- Mehta Sarju
- Mercer Catherine L.
- Michaelides Michel
- Michell Anna C.
- Milford David
- Millar Carolyn M.
- Millar Hazel
- Mistry Anoop
- Moenen Floor
- Moledina Shahin
- Montani David
- Moore Anthony T.
- Moore Jason
- Morrell Nicholas W.
- Morrisson Valerie
- Mozere Monika
- Muir Keith W.
- Mumford Andrew D.
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- Nasir Iman
- Nejentsev Sergey
- Newnham Michael
- Ng Joanne
- Ngoh Adeline
- Noorani Sadia
- Noordegraaf Anton Vonk
- Noori Muna
- Nurden Paquita
- Obaji Samya
- Okoli Steven
- Oksenhendler Eric
- Olschewski Andrea
- Olschewski Horst
- Ong Albert C.M.
- Ong Kai Ren
- Oram Helen
- Ormondroyd Elizabeth
- Othman Shokri
- Ouwehand Willem H.
- Ouwehand Willem H.
- O’Sullivan Jennifer M.
- Pantazis Antonis
- Papadia Sofia
- Papandreou Apostolos
- Park Soo Mi
- Parker Alasdair P.J.
- Parry David
- Parsons Georgina
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- Paterson Joan
- Payne Jeanette H.
- Peacock Andrew J.
- Peerlinck Kathelijne
- Penkett Christopher J.
- Penkett Christopher J.
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- Perry David
- Petersen Romina
- Piechowski-Jozwiak Bartlomiej
- Pinto Fernando
- Polwarth Gary J.
- Ponsford Mark J.
- Prasad Sanjay
- Prokopenko Inga
- Psaila Beth
- Pyle Angela
- Qasim Waseem
- Quinn Ellen
- Quinti Isabella
- Rae William
- Raina Sanjay
- Ranganathan Lavanya
- Rankin Julia
- Rankin Stuart
- Rao Anupama
- Raymond F. Lucy
- Rayner-Matthews Paula J.
- Rayner-Matthews Paula J.
- Rehnstrom Karola
- Reid Evan
- Reilly Mary M.
- Renton Tara
- Revel-Vilk Shoshana
- Rhodes Christopher J.
- Rice Andrew S.C.
- Richards Emma E.
- Richards Mike
- Richardson Sylvia
- Richter Alex
- Rivers Elizabeth
- Robert Leema
- Roberts Irene
- Rondina Matthew T.
- Rosser Elisabeth
- Rothwell Peter
- Roughley Catherine
- Roy Noemi B.
- Rue-Albrecht Kevin
- Sadeghi-Alavijeh Omid
- Saleem Moin A.
- Salmon Richard M.
- Samani Nilesh J.
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- Samarghitean Crina
- Sambrook Jennifer G.
- Sanchis-Juan Alba
- Sanchis-Juan Alba
- Sandford Richard
- Sansom David M.
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- Sargur Ravishankar B.
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- Savic Sinisa
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- Schotte Gwen
- Schuetz Catharina
- Schulman Sol
- Schulze Harald
- Scott Richard
- Scully Marie
- Searle Claire
- Seeger Werner
- Seneviratne Suranjith L.
- Seneviratne Suranjith L.
- Sewell W. A.Carrock
- Seyres Denis
- Shackley Fiona
- Shamardina Olga
- Shapiro Susan E.
- Sharma Pankaj
- Shehata Hassan A.
- Shipley Deborah
- Shtoyerman Rakefet
- Sibson Keith
- Side Lucy
- Simeoni Ilenia
- Simeoni Ilenia
- Simpson Michael
- Sims Matthew C.
- Sinha Manish D.
- Sivapalaratnam Suthesh
- Skytte Anne Bine
- Smith Kenneth G.C.
- Smith Kenneth G.C.
- Snape Katie
- Sneddon Linda
- Sohal Aman
- Soubrier Florent
- Southgate Laura
- Southwood Mark
- Splitt Miranda
- Staines Simon
- Staples Emily
- Staples Emily
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- Stauss Hans
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- Stein Penelope E.
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- Stephens Jonathan
- Stirrups Kathleen E.
- Stirrups Kathleen E.
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- Stubbs Matthew J.
- Suntharalingam Jay
- Swietlik Emilia M.
- Symington Emily
- Tait R. Campbell
- Talks Kate
- Tan Rhea Y.Y.
- Taylor Gordon B.
- Thachil Jecko
- Thaventhiran James E.D.
- Thaventhiran James E.D.
- Themistocleous Andreas C.
- Thomas David C.
- Thomas Ellen
- Thomas Moira J.
- Thomas Moira J.
- Thomas Patrick
- Thompson Dorothy A.
- Thomson Kate
- Thrasher Adrian J.
- Thrasher Adrian J.
- Thys Chantal
- Tilly Tobias
- Tischkowitz Marc
- Titterton Catherine
- Todd John A.
- Toh Cheng Hock
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- Toshner Mark R.
- Traylor Matthew
- Treacy Carmen M.
- Treadaway Paul
- Trembath Richard C.
- Trippier Sarah
- Tuijnenburg Paul
- Tuna Salih
- Turek Wojciech
- Turro Ernest
- Turro Ernest
- Upton Paul D.
- Urniaz Rafal
- Vale Tom
- Van Geet Chris
- van Zuydam Natalie
- Vandersteen Anthony M.
- Vazquez-Lopez Marta
- Veltman Marijcke W.M.
- Vogt Julie
- von Ziegenweidt Julie
- Vora Ajay
- Vries Minka J.A.
- Wakeling Emma L.
- Walker Neil
- Walker Suellen M.
- Walsh Roddy
- Wanjiku Ivy
- Ware James S.
- Warner Timothy Q.
- Wassmer Evangeline
- Watkins Hugh
- Watson Henry G.
- Watt Christopher
- Waugh Dean
- Webb Nick
- Webster Andrew R.
- Wei Wei
- Welch Angela
- Welch Steven B.
- Werring David
- Wessels Julie
- Westbury Sarah K.
- Westwood John Paul W.
- Wharton John
- Whitehorn Deborah
- Whitworth James
- Wilkins Martin R.
- Willcocks Lisa
- Williams David J.
- Williamson Catherine
- Wong Edwin K.S.
- Wood Nicholas
- Wood Yvette
- Woods Christopher Geoffrey
- Woodward Emma R.
- Workman Sarita
- Wort Stephen J.
- Worth Austen
- Worth Austen
- Yates Katherine
- Yeatman Nigel
- Yong Patrick F.K.
- Young Timothy
- Yu Ping
- Yu-Wai-Man Patrick
- Zhang Zinan
- Zlamalova Eliska
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 06/08/2020
- Field of study
An amendment to this paper has been published and can be accessed via a link at the top of the paper
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.
- Author
- Abrea Inna
- Adlard Julian
- Ahmad Ferhaan
- Ahmad Shazzra
- Ahmed Munaza
- Ahmed Sara
- Aitman Tim
- Alachkar Hana
- Allahua Melissa
- Allen Hana Lango
- Allsup David
- Almeida-King Jeff
- Almeida-Peters Sisama
- Aman Jurjan
- Amouyel Philippe
- Ancliff Philip
- Anderson Audrey
- Andrews Mary
- Antrobus Richard
- Archer Stephen L
- Argula Rahul
- Arkon Abby
- Armstrong Ruth
- Arno Gavin
- Arora Amit
- Ashford Sofie
- Astle William
- Aston Valerie
- Attwood Anthony
- Austin Eric D
- Ayesh Waleed
- Babbs Chris
- Badesch David
- Bakchoul Tamam
- Bakshi Sahil
- Bariana Tadbir
- Barnett Christopher
- Barve Mukta
- Barwell Julian
- Batai Ken
- Beckmann Joy
- Bennett David
- Bentley David
- Benza Raymond
- Bhatt Nitin
- Bierzynska Agnieszka
- Bindu John
- Birru Hellina
- Biss Tina
- Blake Randy
- Bleda Marta
- Boekwig Deedre
- Bogaard Harm
- Bogaard Harm J
- Bourne Christian
- Boyce Sara
- Bradley John
- Brady Daniela
- Breen Gerome
- Brennan Paul
- Brewer Carole
- Broach Debra
- Brod Naomi Clements
- Brody Linnea
- Brown Matthew
- Browning Michael
- Bruno Jackie
- Buchan Rachel
- Buckland Matthew
- Bueser Teofila
- Burger Charles D
- Burns Siobhan
- Burren Oliver
- Calleja Paul
- Carr-White Gerald
- Carss Keren
- Casanova Nancy
- Casey Ruth
- Caskey Elizabeth
- Caulfield Mark
- Cebola Ines
- Chakinala Murali
- Chambers Jennifer
- Chambers John
- Cheng Floria
- Chinnery Patrick F
- Christian Martin
- Church Colin
- Coghlan Gerry
- Coghlan John G
- Colby Elizabeth
- Cole Trevor
- Collins Janine
- Collins Peter
- Colombo Camilla
- Condliffe Robin
- Cook Stuart
- Cook Terry
- Cooper Nichola
- Cope Molly
- Cordell Shannon
- Correa Priscilla
- Corris Paul
- Corris Paul A
- Crisp-Hihn Abigail
- Curry Nicola
- Danesino Cesare
- Daniels Matthew
- Daugherty Louise
- Davis Anne
- Davis John
- Debette Stephanie
- Deevi Sri VV
- del Junco Holly
- DeMartino Jordyn
- Dent Timothy
- Desai Ankit A
- Devereux Jane
- Dewhurst Eleanor
- Dillon Laura
- Dixon Peter
- Do Robyn
- Dotson Anne
- Downes Kate
- Drake Jan
- Drazyk Anna
- Drewe Elizabeth
- Durst Louise
- Dutt Tina
- Edgar David
- Edwards Karen
- Egner William
- Elliott C Gregory
- Elwing Jean
- Erber Wendy
- Erwood Marie
- Estiu Maria C
- Evans Dafydd Gareth
- Evans Gillian
- Everington Tamara
- Eyries Melanie
- Eyries Mlanie
- Farber Hap
- Favier Remi
- Feliz Natalia
- Ferrer Jorge
- Fletcher Debra
- Fortin Terry
- Fox James
- Franke Andre
- Frantz Robert P
- Franzo Mya
- Frary Amy
- French Courtney
- Freson Kathleen
- Frontini Mattia
- Frost Adaani
- Gale Daniel
- Gall Henning
- Garcia Joe GN
- Geoghegan Claire
- Gerighty Terry
- Germain Marine
- Ghio Stefano
- Ghofrani Hossein-Ardeschir
- Gibbs J Simon R
- Gibbs Simon
- Gilmour Kimberley
- Girerd Barbara
- Goddard Sarah
- Gomez Keith
- Gordins Pavels
- Gosal David
- Graf Stefan
- Grassi Luigi
- Greene Daniel
- Greenhalgh Lynn
- Greinacher Andreas
- Gresele Paolo
- Griffiths Philip
- Grigoriadou Sofia
- Grocock Russell
- Grozeva Detelina
- Gruhlke Peggy
- Gygi Amber
- Hackett Scott
- Hadinnapola Charaka
- Hague William
- Haimel Matthias
- Hall Matthew
- Hannon Kelly
- Hanscombe Ken B
- Hanson Helen
- Harbaum Lars
- Harkness Kirsty
- Harley John
- Harper Andrew
- Harrington Brandy
- Harris Claire
- Hart Daniel
- Hassan Ahamad
- Hawke Lindsey
- Hawkes Nicholas
- Hayman Grant
- He Hua
- Henderson Alex
- Heuerman Sharon
- Hill Nicholas S
- Hirsch Russel
- Hoffmann Jonathan
- Holy Royanne
- Horvath Rita
- Houweling Arjan
- Houweling Arjan C
- Howard Luke
- Howard Luke S
- Hu Fengyuan
- Hudson Gavin
- Hughes Joseph
- Huissoon Aarnoud
- Humbert Marc
- Humphray Sean
- Hunter Sarah
- Hurles Matthew
- Iem Thoeun
- Igenoza Tosin
- Ingledue Rebecca
- Ivy Dunbar
- Izatt Louise
- Jackson Esperanza
- James Roger
- Johnson Sally
- Jolles Stephen
- Jolley Jennifer
- Jurkute Neringa
- Kaakinen Marika
- Karnekar Reema
- Karnes Jason H
- Kasanicki Mary
- Kazkaz Hanadi
- Kazmi Rashid
- Kelleher Peter
- Kennedy Karla
- Kiely David
- Kiely David G
- Kingston Nathalie
- Kittles Richard
- Klima Robert
- Klinger James
- Knight Jo
- Kostadima Myrto
- Kovacs Gabor
- Koziell Ania
- Kreuzhuber Roman
- Kuijpers Taco
- Kumar Ajith
- Kumararatne Dinakantha
- Kurian Manju
- Laffan Michael
- Lahm Tim
- Lalloo Fiona
- Lambert Michele
- Larimore Daniel
- Laudes Matthias
- Lawrie Allan
- Layton Mark
- Lee Jennifer
- Lemma Merte
- Lentaigne Claire
- Levine Adam
- Lewis Karlise
- Light Allison
- Linger Rachel
- Longhurst Hilary
- Louka Eleni
- Lovato Ellen
- Lutz Katie
- MacDonald Catherine
- Machado Rajiv D
- Madan Bella
- Maher Eamonn
- Maimaris Jesmeen
- Malur Anagha
- Mangles Sarah
- Mapeta Rutendo
- Marchbank Kevin
- Marks Jennifer
- Marks Stephen
- Markus Hugh S
- Marschall Hanns-Ulrich
- Marshall Andrew
- Marsolo Keith
- Martin Jennifer
- Martin Lisa J
- Mathias Mary
- Matthews Emma
- Maxwell Heather
- McAlinden Paul
- McCarthy Mark
- McClain Kimberly
- Mcgaha Traci
- Meacham Stuart
- Mead Adam
- Megy Karyn
- Mehta Sarju
- Mendibles Lillian
- Michaelides Michel
- Millar Carolyn
- Miller-Reed Kathleen
- Moledina Shahin
- Montani David
- Moore Tony
- Morrell Nicholas
- Morrell Nicholas W
- Mozere Monika
- Muir Keith
- Mumford Andrew
- Nathan Steven D
- Newnham Michael
- Nichols William C
- Noordegraaf Anton Vonk
- Norwood Tracy
- O'Sullivan Jennifer
- Obaji Samya
- Okoli Steven
- Olanipekun Lekan
- Olschewski Andrea
- Olschewski Horst
- Ong Kai Ren
- Ormiston Mark
- Ormondroyd Elizabeth
- Oudiz Ronald J
- Ouwehand Willem
- Ouwehand Willem H
- Paciotti Gina
- Palmer Julia
- Palmisciano Amy
- Papadia Sofia
- Park Soo-Mi
- Parry David
- Paterson Joan
- Pauciulo Michael W
- Peacock Andrew
- Peacock Andrew J
- Peden John
- Peerlinck Kathelijne
- Peichel Gretchen
- Penkett Christopher
- Pepke-Zaba Joanna
- Petersen Romina
- Pisarcik Jessica
- Prokopenko Inga
- Pyle Angela
- Rankin Stuart
- Rao Anupama
- Raymond F Lucy
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- Rees Christine
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- Rendon Augusto
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- Reponen Auvo
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- Richter Alex
- Roads Tammy
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- Rosenzweig Erika B
- Ross Robert MacKenzie
- Ross Robert V MacKenzie
- Roughley Catherine
- Rowley Courtney
- Roy Noemi
- Sadeghi-Alavijeh Omid
- Saleem Moin
- Samani Nilesh
- Sanchis-Juan Alba
- Santiago Joseph
- Sargur Ravishankar
- Satchell Simon
- Savic Sinisa
- Saydain Ghulam
- Scelsi Laura
- Schiltz Kimberly
- Schilz Robert
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- Seyres Denis
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- Side Lucy
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- Simms Robert W
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- Singleton Donna
- Sitbon Olivier
- Sivapalaratnam Suthesh
- Skytte Anne-Bine
- Smith Katherine
- Smith Kenneth GC
- Snape Katie
- Soubrier Florent
- Southgate Laura
- Spears Jill
- Staines Simon
- Staples Emily
- Stark Hannah
- Stephens Jonathan
- Stirrups Kathleen
- Stock Sophie
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- Stratton Eric
- Suntharalingam Jay
- Swietlik Emilia
- Swietlik Emilia M
- Szuberla Sylwia
- Tait R Campbell
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- Tang Haiyang
- Tavlarides Andrea
- Tchourbanov Alexander Y
- Thaventhiran James
- Themistocleous Andreas
- Thenappan Thenappan
- Theuer Alison
- Thomas Moira
- Thomson Kate
- Thrasher Adrian
- Thys Chantal
- Tischkowitz Marc
- Titterton Catherine
- Toh Cheng-Hock
- Tomer David
- Torres Fernando
- Toshner Mark
- Toshner Mark R
- Traylor Matthew
- Treacy Carmen
- Treacy Carmen M
- Tregouet David-Alexandre
- Trembath Richard
- Trembath Richard C
- Tuna Salih
- Turek Wojciech
- Turk Erin
- Turro Ernest
- Ulrich Anna
- Urban Tracy
- Vale Tom
- Van Geet Chris
- Van Zuydam Natalie
- Vang Brenda
- Vazquez-Lopez Marta
- Visnaw Karen
- Von Ziegenweidt Julie
- Waisfisz Quinten
- Waisfisz Quintin
- Walker Suellen
- Walsworth Anna K
- Walter Robert E
- Warden Ashley
- Ware James
- Watkins Hugh
- Watt Christopher
- Webster Andrew
- Wei Wei
- Welch Steven
- Wessels Julie
- Westbury Sarah
- Westwood John-Paul
- Wharton John
- White R James
- Whitehorn Deborah
- Whitman Renesa
- Whitworth James
- Wilkins Martin R
- Williams Ann
- Williamson Catherine
- Wilson Opal
- Wilt Jeffrey
- Winslow Clayborne
- Wong Edwin
- Wood Nicholas
- Wood Yvette
- Woods Geoff
- Woodward Emma
- Wort Stephen
- Wort Stephen J
- Worth Austen
- Yates Katherine
- Yong Patrick
- Young Tim
- Yu Ping
- Yu-Wai-Man Patrick
- Yung Delphine
- Ziemak Caitlin
- Publication venue
- Lancet Respir Med
- Publication date
- 26/09/2018
- Field of study
BACKGROUND: Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertension in large international cohorts and assessed the contribution of associated regions to outcomes. METHODS: We did two separate genome-wide association studies (GWAS) and a meta-analysis of pulmonary arterial hypertension. These GWAS used data from four international case-control studies across 11 744 individuals with European ancestry (including 2085 patients). One GWAS used genotypes from 5895 whole-genome sequences and the other GWAS used genotyping array data from an additional 5849 individuals. Cross-validation of loci reaching genome-wide significance was sought by meta-analysis. Conditional analysis corrected for the most significant variants at each locus was used to resolve signals for multiple associations. We functionally annotated associated variants and tested associations with duration of survival. All-cause mortality was the primary endpoint in survival analyses. FINDINGS: A locus near SOX17 (rs10103692, odds ratio 1·80 [95% CI 1·55-2·08], p=5·13 × 10-15) and a second locus in HLA-DPA1 and HLA-DPB1 (collectively referred to as HLA-DPA1/DPB1 here; rs2856830, 1·56 [1·42-1·71], p=7·65 × 10-20) within the class II MHC region were associated with pulmonary arterial hypertension. The SOX17 locus had two independent signals associated with pulmonary arterial hypertension (rs13266183, 1·36 [1·25-1·48], p=1·69 × 10-12; and rs10103692). Functional and epigenomic data indicate that the risk variants near SOX17 alter gene regulation via an enhancer active in endothelial cells. Pulmonary arterial hypertension risk variants determined haplotype-specific enhancer activity, and CRISPR-mediated inhibition of the enhancer reduced SOX17 expression. The HLA-DPA1/DPB1 rs2856830 genotype was strongly associated with survival. Median survival from diagnosis in patients with pulmonary arterial hypertension with the C/C homozygous genotype was double (13·50 years [95% CI 12·07 to >13·50]) that of those with the T/T genotype (6·97 years [6·02-8·05]), despite similar baseline disease severity. INTERPRETATION: This is the first study to report that common genetic variation at loci in an enhancer near SOX17 and in HLA-DPA1/DPB1 is associated with pulmonary arterial hypertension. Impairment of SOX17 function might be more common in pulmonary arterial hypertension than suggested by rare mutations in SOX17. Further studies are needed to confirm the association between HLA typing or rs2856830 genotyping and survival, and to determine whether HLA typing or rs2856830 genotyping improves risk stratification in clinical practice or trials. FUNDING: UK NIHR, BHF, UK MRC, Dinosaur Trust, NIH/NHLBI, ERS, EMBO, Wellcome Trust, EU, AHA, ACClinPharm, Netherlands CVRI, Dutch Heart Foundation, Dutch Federation of UMC, Netherlands OHRD and RNAS, German DFG, German BMBF, APH Paris, INSERM, Université Paris-Sud, and French ANR
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)
- Author
- Abdel-Aziz Amal Kamal
- Abdelfatah Sara
- Abdellatif Mahmoud
- Abdoli Asghar
- Abel Steffen
- Abeliovich Hagai
- Abildgaard Marie H
- Abudu Yakubu Princely
- Acevedo-Arozena Abraham
- Adamopoulos Iannis E
- Adeli Khosrow
- Adolph Timon E
- Adornetto Annagrazia
- Aflaki Elma
- Afshar Elham Ghasemipour
- Agam Galila
- Agarwal Anupam
- Aggarwal Bharat B
- Agnello Maria
- Agostinis Patrizia
- Agrewala Javed N
- Agrotis Alexander
- Aguilar Patricia V
- Ahmad S Tariq
- Ahmed Zubair M
- Ahumada-Castro Ulises
- Aits Sonja
- Aizawa Shu
- Akkoc Yunus
- Akoumianaki Tonia
- Akpinar Hafize Aysin
- Al-Abd Ahmed M
- Al-Akra Lina
- Al-Bari M Abdul Alim
- Al-Gharaibeh Abeer
- Alaoui-Jamali Moulay A
- Alberti Simon
- Alcocer-Gomez Elisabet
- Alcon Soledad Porte
- Alessandri Cristiano
- Ali Muhammad
- Aliwaini Saeb
- Alizadeh Javad
- Almacellas Eugenia
- Almasan Alexandru
- Alonso Alicia
- Alonso Guillermo D
- Altan-Bonnet Nihal
- Altieri Dario C
- Alvarez Elida MC
- Alves Sara
- Alzaharna Mazen M
- Amadio Marialaura
- Amantini Consuelo
- Amaral Cristina
- Ambrosio Susanna
- Amer Amal O
- Ammanathan Veena
- An Zhenyi
- Andersen Stig U
- Andrabi Shaida A
- Andrade-Silva Magaiver
- Andres Allen M
- Angelini Sabrina
- Ann David
- Anozie Uche C
- Ansari Mohammad Y
- Antas Pedro
- Antebi Adam
- Anton Zurine
- Anwar Tahira
- Apetoh Lionel
- Apostolova Nadezda
- Araki Toshiyuki
- Araki Yasuhiro
- Arasaki Kohei
- Araujo Thais Fenz
- Araujo Wagner L
- Araya Jun
- Arden Catherine
- Arevalo Maria-Angeles
- Arguelles Sandro
- Arias Esperanza
- Arikkath Jyothi
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- Armstrong-James Darius
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- Backer Jonathan M
- Backues Steven K
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- Bai Hua
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- Zhang Yi
- Zhang Ying-Dong
- Zhang Yingmei
- Zhang Yuan-Yuan
- Zhang Yuchen
- Zhang Zhe
- Zhang Zhengguang
- Zhang Zhibing
- Zhang Zhihai
- Zhang Zhiyong
- Zhang Zili
- Zhao Haobin
- Zhao Lei
- Zhao Shuang
- Zhao Tongbiao
- Zhao Xiao-Fan
- Zhao Ying
- Zhao Yongchao
- Zhao Yongliang
- Zhao Yuting
- Zheng Guoping
- Zheng Kai
- Zheng Ling
- Zheng Shizhong
- Zheng Xi-Long
- Zheng Yi
- Zheng Zu-Guo
- Zhivotovsky Boris
- Zhong Qing
- Zhou Ao
- Zhou Ben
- Zhou Cefan
- Zhou Gang
- Zhou Hao
- Zhou Hong
- Zhou Hongbo
- Zhou Jie
- Zhou Jing
- Zhou Jing
- Zhou Jiyong
- Zhou Kailiang
- Zhou Rongjia
- Zhou Xu-Jie
- Zhou Yanshuang
- Zhou Yinghong
- Zhou Yubin
- Zhou Zheng-Yu
- Zhou Zhou
- Zhu Binglin
- Zhu Changlian
- Zhu Guo-Qing
- Zhu Haining
- Zhu Hongxin
- Zhu Hua
- Zhu WeiGuo
- Zhu Yanping
- Zhu Yushan
- Zhuang Haixia
- Zhuang Xiaohong
- Zientara-Rytter Katarzyna
- Zimmermann Christine M
- Ziviani Elena
- Zoladek Teresa
- Zong Wei-Xing
- Zorov Dmitry B
- Zorzano Antonio
- Zou Weiping
- Zou Zhen
- Zou Zhengzhi
- Zuryn Steven
- Zwerschke Werner
- Publication venue
- 'Informa UK Limited'
- Publication date
- 01/01/2021
- Field of study
In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes. These guidelines are not meant to be a dogmatic set of rules, because the appropriateness of any assay largely depends on the question being asked and the system being used. Moreover, no individual assay is perfect for every situation, calling for the use of multiple techniques to properly monitor autophagy in each experimental setting. Finally, several core components of the autophagy machinery have been implicated in distinct autophagic processes (canonical and noncanonical autophagy), implying that genetic approaches to block autophagy should rely on targeting two or more autophagy-related genes that ideally participate in distinct steps of the pathway. Along similar lines, because multiple proteins involved in autophagy also regulate other cellular pathways including apoptosis, not all of them can be used as a specific marker for bona fide autophagic responses. Here, we critically discuss current methods of assessing autophagy and the information they can, or cannot, provide. Our ultimate goal is to encourage intellectual and technical innovation in the field
Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356
- Author
- Abdelmohsen Kotb
- Abe Akihisa
- Abedin Md Joynal
- Abeliovich Hagai
- Adachi Hiroaki
- Adams Christopher M.
- Adams Peter D.
- Adeli Khosrow
- Adhihetty Peter J.
- Adler Sharon G.
- Agam Galila
- Agarwal Rajesh
- Aghi Manish K.
- Agnello Maria
- Agostinis Patrizia
- Aguilar Patricia V.
- Aguirre-Ghiso Julio
- Airoldi Edoardo M.
- Ait-Si-Ali Slimane
- Akematsu Takahiko
- Akporiaye Emmanuel T.
- Al-Rubeai Mohamed
- Albaiceta Guillermo M.
- Albanese Chris
- Albani Diego
- Albert Matthew L.
- Aldudo Jesus
- Algül Hana
- Alirezaei Mehrdad
- Alloza Iraide
- Almasan Alexandru
- Almonte-Beceril Maylin
- Alnemri Emad S.
- Alonso Covadonga
- Altan-Bonnet Nihal
- Altieri Dario C.
- Alvarez Silvia
- Alvarez-Erviti Lydia
- Alves Sandro
- Amadoro Giuseppina
- Amano Atsuo
- Amantini Consuelo
- Ambrosio Santiago
- Amelio Ivano
- Amer Amal O.
- Amessou Mohamed
- Amon Angelika
- An Zhenyi
- Anania Frank A.
- Andersen Stig U.
- Andley Usha P.
- Andreadi Catherine K.
- Andrieu-Abadie Nathalie
- Anel Alberto
- Ann David K.
- Anoopkumar-Dukie Shailendra
- Antonioli Manuela
- Aoki Hiroshi
- Apostolova Nadezda
- Aquila Saveria
- Aquilano Katia
- Araki Koichi
- Arama Eli
- Aranda Agustin
- Araya Jun
- Arcaro Alexandre
- Arias Esperanza
- Arimoto Hirokazu
- Ariosa Aileen R.
- Armstrong Jane L.
- Arnould Thierry
- Arozena Abraham Acevedo
- Arsov Ivica
- Asanuma Katsuhiko
- Askanas Valerie
- Asselin Eric
- Atarashi Ryuichiro
- Atherton Sally S.
- Atkin Julie D.
- Attardi Laura D.
- Auberger Patrick
- Auburger Georg
- Aurelian Laure
- Autelli Riccardo
- Avagliano Laura
- Avantaggiati Maria Laura
- Avrahami Limor
- Awale Suresh
- Azad Neelam
- Bachetti Tiziana
- Backer Jonathan M.
- Bae Dong-Hun
- Bae Jae-Sung
- Bae Ok-Nam
- Bae Soo Han
- Baehrecke Eric H.
- Baek Seung-Hoon
- Baghdiguian Stephen
- Bagniewska-Zadworna Agnieszka
- Bai Hua
- Bai Jie
- Bai Xue-Yuan
- Bailly Yannick
- Balaji Kithiganahalli Narayanaswamy
- Balduini Walter
- Ballabio Andrea
- Balzan Rena
- Banerjee Rajkumar
- Bao Haijun
- Barbato Daniele Lettieri
- Barbeau Benoit
- Barrachina Maria D.
- Barreiro Esther
- Bartel Bonnie
- Bartolomé Alberto
- Bassham Diane C.
- Bassi Maria Teresa
- Bast Robert C.
- Basu Alakananda
- Batista Maria Teresa
- Batoko Henri
- Battino Maurizio
- Bauckman Kyle
- Baumgarner Bradley L.
- Bayer K. Ulrich
- Beale Rupert
- Beaulieu Jean-François
- Beck George R.
- Becker Christoph
- Beckham J. David
- Bednarski Patrick J.
- Begley Thomas J.
- Behl Christian
- Behrends Christian
- Behrens Georg M. N.
- Behrns Kevin E.
- Bejarano Eloy
- Belaid Amine
- Belleudi Francesca
- Berchem Guy
- Bergamaschi Daniele
- Bergami Matteo
- Berkhout Ben
- Berliocchi Laura
- Bernard Amélie
- Bernard Monique
- Bernassola Francesca
- Bertolotti Anne
- Bess Amanda S.
- Besteiro Sébastien
- Bettuzzi Saverio
- Bhalla Savita
- Bhattacharyya Shalmoli
- Bhutia Sujit K.
- Biagosch Caroline
- Bianchi Michele Wolfe
- Biard-Piechaczyk Martine
- Billes Viktor
- Bincoletto Claudia
- Bingol Baris
- Bird Sara W.
- Bitoun Marc
- Bjedov Ivana
- Blackstone Craig
- Blanc Lionel
- Blanco Guillermo A.
- Blomhoff Heidi Kiil
- Boada-Romero Emilio
- Boes Marianne
- Boesze-Battaglia Kathleen
- Boise Lawrence H.
- Bolino Alessandra
- Boman Andrea
- Bonaldo Paolo
- Bordi Matteo
- Bosch Jürgen
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- Braga Vania M. M.
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- Brest Patrick
- Bridges Dave
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- Brown Eric J.
- Brown Karen
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- Brum Patricia Chakur
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- Buch Shilpa
- Buchan Alastair M.
- Budak Hikmet
- Bulavin Dmitry V.
- Bultman Scott J.
- Bultynck Geert
- Bumbasirevic Vladimir
- Burelle Yan
- Burke Robert E.
- Burmeister Margit
- Bánhegyi Gábor
- Bédard Pierre-André
- Bénard Giovanni
- Böckler Stefan
- Bütikofer Peter
- Caberlotto Laura
- Cadwell Ken
- Cahova Monika
- Cai Dongsheng
- Cai Jingjing
- Cai Qian
- Calatayud Sara
- Camougrand Nadine
- Campagne Menno van Lookeren
- Campanella Michelangelo
- Campbell Grant R.
- Campbell Matthew
- Campello Silvia
- Candau Robin
- Caniggia Isabella
- Cantoni Lavinia
- Cao Lizhi
- Caplan Allan B.
- Caraglia Michele
- Cardinali Claudio
- Cardoso Sandra Morais
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- Carlin Cathleen R.
- Carloni Silvia
- Carlsson Sven R.
- Carmona-Gutierrez Didac
- Carneiro Leticia A. M.
- Carnevali Oliana
- Carra Serena
- Carrier Alice
- Carroll Bernadette
- Casas Caty
- Casas Josefina
- Cassinelli Giuliana
- Castets Perrine
- Castro-Obregon Susana
- Cavallini Gabriella
- Ceccherini Isabella
- Cecconi Francesco
- Cederbaum Arthur I.
- Cenci Simone
- Cerella Claudia
- Cervia Davide
- Cetrullo Silvia
- Ceña Valentín
- Chaachouay Hassan
- Chae Han-Jung
- Chagin Andrei S.
- Chai Chee-Yin
- Chakrabarti Gopal
- Chamilos Georgios
- Chan Edmond Y. W.
- Chan Matthew T. V.
- Chandra Dhyan
- Chandra Pallavi
- Chang Chih-Peng
- Chang Raymond Chuen-Chung
- Chang Ta Yuan
- Chatham John C.
- Chatterjee Saurabh
- Chauhan Santosh
- Che Yongsheng
- Cheetham Michael E.
- Cheluvappa Rajkumar
- Chen Chun-Jung
- Chen Gang
- Chen Guang-Chao
- Chen Guoqiang
- Chen Hongzhuan
- Chen Jeff W.
- Chen Jian-Kang
- Chen Min
- Chen Mingzhou
- Chen Peiwen
- Chen Qi
- Chen Quan
- Chen Shang-Der
- Chen Si
- Chen Steve S. -L.
- Chen Wei
- Chen Wei-Jung
- Chen Wen Qiang
- Chen Wenli
- Chen Xiangmei
- Chen Yau-Hung
- Chen Ye-Guang
- Chen Yin
- Chen Yingyu
- Chen Yongshun
- Chen Yu-Jen
- Chen Yue-Qin
- Chen Yujie
- Chen Zhen
- Chen Zhong
- Cheng Alan
- Cheng Christopher H. K.
- Cheng Hua
- Cheong Heesun
- Cherry Sara
- Chesney Jason
- Cheung Chun Hei Antonio
- Chevet Eric
- Chi Hsiang Cheng
- Chi Sung-Gil
- Chiacchiera Fulvio
- Chiang Hui-Ling
- Chiarelli Roberto
- Chiariello Mario
- Chieppa Marcello
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- Chiu Gigi N. C.
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- Choi Jayoung
- Choi Mary E.
- Choi Seung-Il
- Chou Tsui-Fen
- Chouaib Salem
- Choubey Divaker
- Choubey Vinay
- Chow Kuan-Chih
- Chowdhury Kamal
- Chu Charleen T.
- Chuang Tsung-Hsien
- Chun Taehoon
- Chung Hyewon
- Chung Taijoon
- Chung Yuen-Li
- Chwae Yong-Joon
- Cianfanelli Valentina
- Ciarcia Roberto
- Ciechomska Iwona A.
- Ciriolo Maria Rosa
- Cirone Mara
- Claerhout Sofie
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- Clementi Emilio
- Cleyrat Cédric
- Cl� ria Joan
- Cnop Miriam
- Coccia Eliana M.
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- Codogno Patrice
- Coers Jörn
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- Coletto Luisa
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- Comincini Sergio
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- Corti Olga
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- Cottet Sandra
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- Covey Lori R.
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- Crepaldi Tiziana
- Crespo Jose L.
- Criollo Alfredo
- Crippa Valeria
- Cruz Maria Teresa
- Cuervo Ana Maria
- Cuezva Jose M.
- Cui Taixing
- Cutillas Pedro R.
- Czaja Mark J.
- Czyzyk-Krzeska Maria F.
- D'amelio Marcello
- D'orazi Gabriella
- Dagda Ruben K.
- Dahmen Uta
- Dai Chunsun
- Dai Wenjie
- Dai Yun
- Dalby Kevin N.
- Dalmasso Guillaume
- Damme Markus
- Darfeuille-Michaud Arlette
- Dargemont Catherine
- Darley-Usmar Victor M.
- Dasarathy Srinivasan
- Dasgupta Biplab
- Dash Srikanta
- Dass Crispin R.
- Davey Hazel Marie
- Davids Lester M.
- Davis Roger J.
- Dawson Ted M.
- Dawson Valina L.
- Daza Paula
- de Belleroche Jackie
- de Cordoba Santiago Rodriguez
- de Figueiredo Paul
- de Figueiredo Regina Celia Bressan Queiroz
- de la Cruz Verónica Pérez
- de la Fuente José
- De Martino Luisa
- De Matteis Antonella
- de Melo Edesio Jose Tenorio
- De Meyer Guido R. Y.
- De Milito Angelo
- De Santi Mauro
- de Souza Wanderley
- De Tata Vincenzo
- De Zio Daniela
- Debnath Jayanta
- Dechant Reinhard
- Decuypere Jean-Paul
- Deegan Shane
- Dehay Benjamin
- Del Bello Barbara
- Del Re Dominic P.
- Delage-Mourroux Régis
- Delbridge Lea M. D.
- Deldicque Louise
- Delorme-Axford Elizabeth
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- Dengjel Joern
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- Der Channing J.
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- Derrien Benoît
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- Diaz-Meco Maria T.
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- Dickson Robert C.
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- Dini Luciana
- Distler Jörg H. W.
- Diwan Abhinav
- Djavaheri-Mergny Mojgan
- Dmytruk Kostyantyn
- Dobson Renwick C. J.
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- Dokladny Karol
- Dokudovskaya Svetlana
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- Dong X. Charlie
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- Dong Zheng
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- Donohue-Jr Terrence M.
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- Dosenko Victor
- Dridi Sami
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- Emmenegger Urban
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- Eri Rajaraman
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- Erman Andreja
- Escalante Ricardo
- Eskelinen Eeva-Liisa
- Espert Lucile
- Esteban-Martínez Lorena
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- Fabrizi Cinzia
- Facchiano Antonio
- Faggioni Alberto
- Fairlie W. Douglas
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- Fang Shengyun
- Fanto Manolis
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- Farkas Thomas
- Faure Mathias
- Favier Francois B.
- Fearnhead Howard
- Federici Massimo
- Fei Erkang
- Felizardo Tania C.
- Feng Hua
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- Feng Yuchen
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- Fernandez-Zapico Martin E.
- Fernández Álvaro F.
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- Gabryel Bozena
- Gaestel Matthias
- Gailly Philippe
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- Garg Pramod Kumar
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- Gatica Damián
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- Gavard Julie
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- Ge Liang
- Ge Pengfei
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- Gean Po-Wu
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- González-Polo Rosa Ana
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- Grumati Paolo
- Grune Tilman
- Guan Jun-Lin
- Guan Kun-Liang
- Guerra Barbara
- Guillen Carlos
- Gulshan Kailash
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- Hu Hongbo
- Hu Ming Chang
- Hu Yu-Chen
- Hu Zhuo-Wei
- Hua Fang
- Hua Ya
- Huang Canhua
- Huang Huey-Lan
- Huang Kuo-How
- Huang Kuo-Yang
- Huang Shile
- Huang Shiqian
- Huang Wei-Pang
- Huang Yi-Ran
- Huang Yong
- Huang Yunfei
- Huber Tobias B.
- Huebbe Patricia
- Huh Won-Ki
- Hulmi Juha J.
- Hur Gang Min
- Hurley James H.
- Husak Zvenyslava
- Hussain Sabah N. A.
- Hussain Salik
- Hwang Jung Jin
- Hwang Seungmin
- Hwang Thomas I. S.
- Hébert Marie-Josée
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- Wang Mei
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- Wang Yu
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- Weis Simone Nardin
- Wen Longping
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- Wildenberg Manon E.
- Wileman Tom
- Wilkinson Deepti Srinivas
- Wilkinson Simon
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- Xu Feng
- Xu Haoxing
- Xu Hongwei
- Xu Jian
- Xu Jianzhen
- Xu Jinxian
- Xu Liang
- Xu Xiaolei
- Xu Yangqing
- Xu Ye
- Xu Zhi-Xiang
- Xu Ziheng
- Xue Yu
- Yamada Takahiro
- Yamamoto Ai
- Yamanaka Koji
- Yamashina Shunhei
- Yamashiro Shigeko
- Yan Bing
- Yan Bo
- Yan Xianghua
- Yan Zhen
- Yanagi Yasuo
- Yang Dun-Sheng
- Yang Jin-Ming
- Yang Liu
- Yang Minghua
- Yang Pei-Ming
- Yang Peixin
- Yang Qian
- Yang Wannian
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- Yang Xuesong
- Yang Yi
- Yang Ying
- Yang Zhifen
- Yang Zhihong
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- Yao Pamela J.
- Yao Xiaofeng
- Yao Zhenyu
- Yao Zhiyuan
- Yasui Linda S.
- Ye Mingxiang
- Yedvobnick Barry
- Yeganeh Behzad
- Yeh Elizabeth S.
- Yeyati Patricia L.
- Yi Fan
- Yi Long
- Yin Xiao-Ming
- Yip Calvin K.
- Yoo Yeong-Min
- Yoo Young Hyun
- Yoon Seung-Yong
- Yoshida Ken-Ichi
- Yoshimori Tamotsu
- Young Ken H.
- Yu Huixin
- Yu Jane J.
- Yu Jin-Tai
- Yu Jun
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- Yu W. Haung
- Yu Xiao-Fang
- Yu Zhengping
- Yuan Junying
- Yuan Zhi-Min
- Yue Beatrice Y. J. T.
- Yue Jianbo
- Yue Zhenyu
- Zacks David N.
- Zacksenhaus Eldad
- Zaffaroni Nadia
- Zaglia Tania
- Zakeri Zahra
- Zecchini Vincent
- Zeng Jinsheng
- Zeng Min
- Zeng Qi
- Zervos Antonis S.
- Zhang Donna D.
- Zhang Fan
- Zhang Guo
- Zhang Guo-Chang
- Zhang Hao
- Zhang Hong
- Zhang Hongbing
- Zhang Jian
- Zhang Jiangwei
- Zhang Jianhua
- Zhang Jing-Pu
- Zhang Li
- Zhang Lin
- Zhang Long
- Zhang Ming-Yong
- Zhang Xiangnan
- Zhang Xu Dong
- Zhang Yan
- Zhang Yang
- Zhang Yanjin
- Zhang Yingmei
- Zhang Yunjiao
- Zhao Mei
- Zhao Wei-Li
- Zhao Xiaonan
- Zhao Yan G.
- Zhao Ying
- Zhao Yongchao
- Zhao Yu-Xia
- Zhao Zhendong
- Zhao Zhizhuang J.
- Zheng Dexian
- Zheng Xi-Long
- Zheng Xiaoxiang
- Zhivotovsky Boris
- Zhong Qing
- Zhou Guang-Zhou
- Zhou Guofei
- Zhou Huiping
- Zhou Shu-Feng
- Zhou Xu-Jie
- Zhu Hongxin
- Zhu Hua
- Zhu Wei-Guo
- Zhu Wenhua
- Zhu Xiao-Feng
- Zhu Yuhua
- Zhuang Shi-Mei
- Zhuang Xiaohong
- Ziparo Elio
- Zois Christos E.
- Zoladek Teresa
- Zong Wei-Xing
- Zorzano Antonio
- Zughaier Susu M.
- Publication venue
- 'Informa UK Limited'
- Publication date
- 01/01/2016
- Field of study
non present
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
- Author
- Abdelmohsen Kotb
- Abe Akihisa
- Abedin Md Joynal
- Abeliovich Hagai
- Adachi Hiroaki
- Adams Christopher M.
- Adams Peter D.
- Adeli Khosrow
- Adhihetty Peter J.
- Adler Sharon G.
- Agam Galila
- Agarwal Rajesh
- Aghi Manish K.
- Agnello Maria
- Agostinis Patrizia
- Aguilar Patricia V.
- Aguirre-Ghiso Julio
- Airoldi Edoardo M.
- Ait-Si-Ali Slimane
- Akematsu Takahiko
- Akporiaye Emmanuel T.
- Al-Rubeai Mohamed
- Albaiceta Guillermo M.
- Albanese Chris
- Albani Diego
- Albert Matthew L.
- Aldudo Jesus
- Alguel Hana
- Alirezaei Mehrdad
- Alloza Iraide
- Almasan Alexandru
- Almonte-Beceril Maylin
- Alnemri Emad S.
- Alonso Covadonga
- Altan-Bonnet Nihal
- Altieri Dario C.
- Alvarez Silvia
- Alvarez-Erviti Lydia
- Alves Sandro
- Amadoro Giuseppina
- Amano Atsuo
- Amantini Consuelo
- Ambrosio Santiago
- Amelio Ivano
- Amer Amal O.
- Amessou Mohamed
- Amon Angelika
- An Zhenyi
- Ana Gonzalez-Polo Rosa
- Anania Frank A.
- Andersen Stig U.
- Andley Usha P.
- Andreadi Catherine K.
- Andrieu-Abadie Nathalie
- Anel Alberto
- Ann David K.
- Anoopkumar-Dukie Shailendra
- Antonioli Manuela
- Aoki Hiroshi
- Apostolova Nadezda
- Aquila Saveria
- Aquilano Katia
- Araki Koichi
- Arama Eli
- Aranda Agustin
- Araya Jun
- Arcaro Alexandre
- Arias Esperanza
- Arimoto Hirokazu
- Ariosa Aileen R.
- Armstrong Jane L.
- Arnould Thierry
- Arozena Abraham Acevedo
- Arsov Ivica
- Asanuma Katsuhiko
- Askanas Valerie
- Asselin Eric
- Atarashi Ryuichiro
- Atherton Sally S.
- Atkin Julie D.
- Attardi Laura D.
- Auberger Patrick
- Auburger Georg
- Aurelian Laure
- Autelli Riccardo
- Avagliano Laura
- Avantaggiati Maria Laura
- Avrahami Limor
- Awale Suresh
- Azad Neelam
- Bachetti Tiziana
- Backer Jonathan M.
- Bae Dong-Hun
- Bae Jae-Sung
- Bae Ok-Nam
- Bae Soo Han
- Baehrecke Eric H.
- Baek Seung-Hoon
- Baghdiguian Stephen
- Bagniewska-Zadworna Agnieszka
- Bai Hua
- Bai Jie
- Bai Xue-Yuan
- Bailly Yannick
- Balaji Kithiganahalli Narayanaswamy
- Balduini Walter
- Ballabio Andrea
- Balzan Rena
- Banerjee Rajkumar
- Banhegyi Gabor
- Bao Haijun
- Barbato Daniele Lettieri
- Barbeau Benoit
- Barrachina Maria D.
- Barreiro Esther
- Bartel Bonnie
- Bartolome Alberto
- Bassham Diane C.
- Bassi Maria Teresa
- Bast Robert C., Jr.
- Basu Alakananda
- Batista Maria Teresa
- Batoko Henri
- Battino Maurizio
- Bauckman Kyle
- Baumgarner Bradley L.
- Bayer K. Ulrich
- Beale Rupert
- Beaulieu Jean-Francois
- Beck George R., Jr.
- Becker Christoph
- Beckham J. David
- Bedard Pierre-Andre
- Bednarski Patrick J.
- Begley Thomas J.
- Behl Christian
- Behrends Christian
- Behrens Georg M. N.
- Behrns Kevin E.
- Bejarano Eloy
- Belaid Amine
- Belleudi Francesca
- Benard Giovanni
- Berchem Guy
- Bergamaschi Daniele
- Bergami Matteo
- Berkhout Ben
- Berliocchi Laura
- Bernard Amelie
- Bernard Monique
- Bernassola Francesca
- Bertolotti Anne
- Bess Amanda S.
- Besteiro Sebastien
- Bettuzzi Saverio
- Bhalla Savita
- Bhattacharyya Shalmoli
- Bhutia Sujit K.
- Biagosch Caroline
- Bianchi Michele Wolfe
- Biard-Piechaczyk Martine
- Billes Viktor
- Bincoletto Claudia
- Bingol Baris
- Bird Sara W.
- Bitoun Marc
- Bjedov Ivana
- Blackstone Craig
- Blanc Lionel
- Blanco Guillermo A.
- Blomhoff Heidi Kiil
- Boada-Romero Emilio
- Boeckler Stefan
- Boes Marianne
- Boesze-Battaglia Kathleen
- Boise Lawrence H.
- Bolino Alessandra
- Boman Andrea
- Bonaldo Paolo
- Bordi Matteo
- Bosch Jurgen
- Botana Luis M.
- Botti Joelle
- Bou German
- Bouche Marina
- Bouchecareilh Marion
- Boucher Marie-Josee
- Boulton Michael E.
- Bouret Sebastien G.
- Boya Patricia
- Boyer-Guittaut Michaeel
- Bozhkov Peter V.
- Brady Nathan
- Braga Vania M. M.
- Brancolini Claudio
- Braus Gerhard H.
- Bravo-San Pedro Jose M.
- Brennan Lisa A.
- Bresnick Emery H.
- Bressan Queiroz de Figueiredo Regina Celia
- Brest Patrick
- Bridges Dave
- Bringer Marie-Agnes
- Brini Marisa
- Brito Glauber C.
- Brodin Bertha
- Brookes Paul S.
- Brown Eric J.
- Brown Karen
- Broxmeyer Hal E.
- Bruhat Alain
- Brum Patricia Chakur
- Brumell John H.
- Brunetti-Pierri Nicola
- Bryson-Richardson Robert J.
- Buch Shilpa
- Buchan Alastair M.
- Budak Hikmet
- Buetikofer Peter
- Bulavin Dmitry V.
- Bultman Scott J.
- Bultynck Geert
- Bumbasirevic Vladimir
- Burelle Yan
- Burke Robert E.
- Burmeister Margit
- Caberlotto Laura
- Cadwell Ken
- Cahova Monika
- Cai Dongsheng
- Cai Jingjing
- Cai Qian
- Calatayud Sara
- Camougrand Nadine
- Campanella Michelangelo
- Campbell Grant R.
- Campbell Matthew
- Campello Silvia
- Candau Robin
- Caniggia Isabella
- Cantoni Lavinia
- Cao Lizhi
- Caplan Allan B.
- Caraglia Michele
- Cardinali Claudio
- Cardoso Sandra Morais
- Carew Jennifer S.
- Carleton Laura A.
- Carlin Cathleen R.
- Carloni Silvia
- Carlsson Sven R.
- Carmona-Gutierrez Didac
- Carneiro Leticia A. M.
- Carnevali Oliana
- Carra Serena
- Carrier Alice
- Carroll Bernadette
- Casas Caty
- Casas Josefina
- Cassinelli Giuliana
- Castets Perrine
- Castro-Obregon Susana
- Cavallini Gabriella
- Ceccherini Isabella
- Cecconi Francesco
- Cederbaum Arthur I.
- Cena Valentin
- Cenci Simone
- Cerella Claudia
- Cervia Davide
- Cetrullo Silvia
- Chaachouay Hassan
- Chae Han-Jung
- Chagin Andrei S.
- Chai Chee-Yin
- Chakrabarti Gopal
- Chamilos Georgios
- Chan Edmond Y. W.
- Chan Matthew T. V.
- Chandra Dhyan
- Chandra Pallavi
- Chang Chih-Peng
- Chang Raymond Chuen-Chung
- Chang Ta Yuan
- Chatham John C.
- Chatterjee Saurabh
- Chauhan Santosh
- Che Yongsheng
- Cheetham Michael E.
- Cheluvappa Rajkumar
- Chen Chun-Jung
- Chen Gang
- Chen Guang-Chao
- Chen Guoqiang
- Chen Hongzhuan
- Chen Jeff W.
- Chen Jian-Kang
- Chen Min
- Chen Mingzhou
- Chen Peiwen
- Chen Qi
- Chen Quan
- Chen Shang-Der
- Chen Si
- Chen Steve S-L
- Chen Wei
- Chen Wei-Jung
- Chen Wen Qiang
- Chen Wenli
- Chen Xiangmei
- Chen Yau-Hung
- Chen Ye-Guang
- Chen Yin
- Chen Yingyu
- Chen Yongshun
- Chen Yu-Jen
- Chen Yue-Qin
- Chen Yujie
- Chen Zhen
- Chen Zhong
- Cheng Alan
- Cheng Christopher H. K.
- Cheng Hua
- Cheong Heesun
- Cherry Sara
- Chesney Jason
- Cheung Chun Hei Antonio
- Chevet Eric
- Chi Hsiang Cheng
- Chi Sung-Gil
- Chiacchiera Fulvio
- Chiang Hui-Ling
- Chiarelli Roberto
- Chiariello Mario
- Chieppa Marcello
- Chin Lih-Shen
- Chiong Mario
- Chiu Gigi N. C.
- Cho Dong-Hyung
- Cho Ssang-Goo
- Cho William C.
- Cho Yong-Yeon
- Cho Young-Seok
- Choi Augustine M. K.
- Choi Eui-Ju
- Choi Eun-Kyoung
- Choi Jayoung
- Choi Mary E.
- Choi Seung-Il
- Chou Tsui-Fen
- Chouaib Salem
- Choubey Divaker
- Choubey Vinay
- Chow Kuan-Chih
- Chowdhury Kamal
- Chu Charleen T.
- Chuang Tsung-Hsien
- Chun Taehoon
- Chung Hyewon
- Chung Taijoon
- Chung Yuen-Li
- Chwae Yong-Joon
- Cianfanelli Valentina
- Ciarcia Roberto
- Ciechomska Iwona A.
- Ciriolo Maria Rosa
- Cirone Mara
- Claerhout Sofie
- Clague Michael J.
- Claria Joan
- Clarke Peter G. H.
- Clarke Robert
- Clementi Emilio
- Cleyrat Cedric
- Cnop Miriam
- Coccia Eliana M.
- Cocco Tiziana
- Codogno Patrice
- Coers Joern
- Cohen Ezra E. W.
- Colecchia David
- Coletto Luisa
- Coll Nuria S.
- Colucci-Guyon Emma
- Comincini Sergio
- Condello Maria
- Cook Katherine L.
- Coombs Graham H.
- Cooper Cynthia D.
- Cooper J. Mark
- Coppens Isabelle
- Corasaniti Maria Tiziana
- Corazzari Marco
- Corbalan Ramon
- Corcelle-Termeau Elisabeth
- Cordero Mario D.
- Corral-Ramos Cristina
- Corti Olga
- Cossarizza Andrea
- Costelli Paola
- Costes Safia
- Costes Safia
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- Yue Jianbo
- Yue Zhenyu
- Zacks David N.
- Zacksenhaus Eldad
- Zaffaroni Nadia
- Zaglia Tania
- Zakeri Zahra
- Zecchini Vincent
- Zeng Jinsheng
- Zeng Min
- Zeng Qi
- Zervos Antonis S.
- Zhang Donna D.
- Zhang Fan
- Zhang Guo
- Zhang Guo-Chang
- Zhang Hao
- Zhang Hong
- Zhang Hong
- Zhang Hongbing
- Zhang Jian
- Zhang Jian
- Zhang Jiangwei
- Zhang Jianhua
- Zhang Jing-pu
- Zhang Li
- Zhang Lin
- Zhang Lin
- Zhang Long
- Zhang Ming-Yong
- Zhang Xiangnan
- Zhang Xu Dong
- Zhang Yan
- Zhang Yang
- Zhang Yanjin
- Zhang Yingmei
- Zhang Yunjiao
- Zhao Mei
- Zhao Wei-Li
- Zhao Xiaonan
- Zhao Yan G.
- Zhao Ying
- Zhao Yongchao
- Zhao Yu-Xia
- Zhao Zhendong
- Zhao Zhizhuang J.
- Zheng Dexian
- Zheng Xi-Long
- Zheng Xiaoxiang
- Zhivotovsky Boris
- Zhong Qing
- Zhou Guang-Zhou
- Zhou Guofei
- Zhou Huiping
- Zhou Shu-Feng
- Zhou Xu-Jie
- Zhu Hongxin
- Zhu Hua
- Zhu Wei-Guo
- Zhu Wenhua
- Zhu Xiao-Feng
- Zhu Yuhua
- Zhuang Shi-Mei
- Zhuang Xiaohong
- Ziparo Elio
- Zois Christos E.
- Zoladek Teresa
- Zong Wei-Xing
- Zorzano Antonio
- Zughaier Susu M.
- Publication venue
- Publication date
- 01/01/2016
- Field of study