42 research outputs found
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
- Author
- Akkari Yassmine
- Amaral Michelle D.
- Amendola Laura M.
- Berg Jonathan S.
- Biesecker Leslie G.
- Biswas Sawona
- Bowling Kevin M.
- Conlin Laura K.
- Cooper Greg M.
- Dorschner Michael O.
- Dulik Matthew C.
- Ghazani Arezou A.
- Ghosh Rajarshi
- Green Robert C.
- Hart Ragan
- Horton Carrie
- Jarvik Gail P.
- Johnston Jennifer J.
- Lebo Matthew S.
- Leo Michael C.
- McLaughlin Heather M.
- Milosavljevic Aleksandar
- Ou Jeffrey
- Pak Christine M.
- Patel Ronak Y.
- Plon Sharon E.
- Punj Sumit
- Rehm Heidi L.
- Richards Carolyn Sue
- Salama Joseph
- Strande Natasha T.
- Yang Yaping
- Publication venue
- Publication date
- 01/01/2016
- Field of study
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult, and standards have been needed. In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published guidelines for the assessment of variants in genes associated with Mendelian diseases. Nine molecular diagnostic laboratories involved in the Clinical Sequencing Exploratory Research (CSER) consortium piloted these guidelines on 99 variants spanning all categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign). Nine variants were distributed to all laboratories, and the remaining 90 were evaluated by three laboratories. The laboratories classified each variant by using both the laboratory's own method and the ACMG-AMP criteria. The agreement between the two methods used within laboratories was high (K-alpha = 0.91) with 79% concordance. However, there was only 34% concordance for either classification system across laboratories. After consensus discussions and detailed review of the ACMG-AMP criteria, concordance increased to 71%. Causes of initial discordance in ACMG-AMP classifications were identified, and recommendations on clarification and increased specification of the ACMG-AMP criteria were made. In summary, although an initial pilot of the ACMG-AMP guidelines did not lead to increased concordance in variant interpretation, comparing variant interpretations to identify differences and having a common framework to facilitate resolution of those differences were beneficial for improving agreement, allowing iterative movement toward increased reporting consistency for variants in genes associated with monogenic disease
Pan-Cancer Analysis of lncRNA Regulation Supports Their Targeting of Cancer Genes in Each Tumor Context
- Author
- Abdel-Rahman Mohamed H.
- Abeshouse Adam
- Adebamowo Clement
- Adebamowo Sally N.
- Agnew Kathy
- Ahn Keunsoo
- Ajani Jaffer A.
- Akbani Rehan
- Akeredolu Teniola
- Al-Ahmadie Hikmat
- Albert Monique
- Alexopoulou Iakovina
- Ally Adrian
- Alvaro Domenico
- Anderson Matthew L.
- Andry Chris
- Antenucci Anna
- Anur Pavana
- Appelbaum Elizabeth L.
- Aredes Natália D.
- Armenia Joshua
- Arnaout Angel
- Asa Sylvia L.
- Auman J. Todd
- Aymerich Marta
- Aziz Dina
- Bailey Matthew
- Balasundaram Miruna
- Balu Saianand
- Barnett Gene
- Barnholtz-Sloan Jill S.
- Barrett Wendi
- Bartlett John
- Bathe Oliver
- Baudin Eric
- Baylin Stephen
- Becker Karl-Friedrich
- Beer David
- Behera Madhusmita
- Behrens Carmen
- Bell Debra
- Bell Sue
- Bellair Michelle
- Bennett Joseph
- Benz Christopher
- Berchuck Andrew
- Berger Ashton C.
- Bergeron Alain
- Berkowitz Ross
- Bernard Brady
- Beroukhim Rameen
- Beuschlein Felix
- Bifulco Carlo
- Bigner Darell
- Birrer Michael
- Birsoy Kivanc
- Bocklage Therese
- Bodenheimer Tom
- Bondaruk Jolanta
- Bootwalla Moiz S.
- Borad Mitesh
- Borgia Jeffrey A.
- Bossler Aaron
- Botnariuc Natalia
- Boussioutas Alex
- Bowen Jay
- Bowlby Reanne
- Bowman Rayleen
- Bradford Carol
- Bragazzi Maria Consiglia
- Brat Daniel J.
- Breggia Anne
- Brewer Cathy
- Brimo Fadi
- Broaddus Russell
- Brooks Denise
- Broom Bradley M.
- Broudy Thomas
- Bryce Alan H.
- Bubley Glenn
- Bueno Raphael
- Burnette Andrew
- Caesar-Johnson Samantha J.
- Calatozzolo Chiara
- Campo Elias
- Campos Benito
- Caraman Irina
- Cardinale Vincenzo
- Carey Francis
- Carey Thomas
- Carlotti Carlos Gilberto
- Carlsen Rebecca
- Carney Michael
- Carpino Guido
- Carroll Peter R.
- Carter Candace
- Carvalho Andre L.
- Castle Erik
- Castro Patricia D.
- Catto James
- Cebulla Colleen M.
- Cernat Mircea
- Chabot John
- Chakravarty Debyani
- Chambwe Nyasha
- Chan June M.
- Chan Timothy A.
- Chandan Vishal
- Chang Kyle
- Chatila Walid K.
- Chatterjee Sujash S.
- Chemencedji Inga
- Chen Amy
- Chen Chu
- Chen Ting-Wen
- Cheng Feixiong
- Cherniack Andrew D.
- Chesla David
- Chevalier Simone
- Cheville John
- Chiu Hua-Sheng
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Chung Ki
- Cibulskis Carrie
- Clipca Adrian
- Colman Howard
- Cope Leslie
- Copland John A.
- Corcoran Niall
- Cordes Matthew G.
- Costello Tony
- Cottingham Sandra
- Couce Marta
- Covington Kyle
- Crain Daniel
- Cramer Daniel
- Creaney Jenette
- Creighton Chad J.
- Cuppini Lucia
- Curley Erin
- Cuzzubbo Stefania
- Czerniak Bogdan
- Danilova Ludmila
- Davis Amy
- de Bruijn Ino
- de Carvalho Ana C.
- de Krijger Ronald
- De Rienzo Assunta
- De Rose Agostino
- Defreitas Timothy
- Delman Keith
- Demchok John A.
- Desjardins Laurence
- Devine Karen
- Deyarmin Brenda
- Dhalla Noreen
- Dhanasekaran Renumathy
- Dhankani Varsha
- Dhir Rajiv
- Dimeco Francesco
- Ding Li
- Dinh Huyen
- Dinkin Mikhail
- Dipersio John
- Disaia Philip
- Doddapaneni Harshavardhan
- Donehower Lawrence A.
- Doruc Serghei
- Dos Santos Jose Sebastião
- Dottino Peter R.
- Drake Bettina
- Drummond Jennifer
- Drwiega Paul
- Dubina Michael
- Duell Rebecca
- Duffy Elizabeth R.
- Eckman John
- Edenfield W. Jeffrey
- Eijckenboom Wil
- Elder J. Bradley
- Engel Jay
- Eschbacher Jennifer
- Esmaeli Bita
- Evason Kimberley
- Facciolo Francesco
- Fan Cheng
- Fan Huihui
- Fantacone-Campbell J. Leigh
- Farnell Michael
- Farver Carol
- Fassnacht Martin
- Fehrenbach Ashley
- Felau Ina
- Feldman Michael
- Feltmate Colleen
- Ferguson Martin L.
- Finocchiaro Gaetano
- Flotte Thomas
- Fong Kwun M.
- Force Seth
- Forgie Ian
- Frazer Scott
- Fregnani José H.
- Fronick Catrina C.
- Fujimoto Junya
- Fulop Jordonna
- Fulton Lucinda A.
- Fulton Robert S.
- Gabra Hani
- Gabriel Stacey B.
- Galbraith Joseph
- Gao Galen F.
- Gao Jianjiong
- Gardner Johanna
- Gastier-Foster Julie M.
- Gaudio Eugenio
- Gehlenborg Nils
- Gerken Mark
- Gershenwald Jeffrey
- Getz Gad
- Ghossein Ronald
- Giama Nasra
- Gibbs Richard A.
- Gilbert Sebastien
- Gillis Ad
- Gimenez-Roqueplo Anne-Paule
- Giné Eva
- Giordano Thomas
- Girard Nicolas
- Giuliante Felice
- Glenn Pat
- Glenn Robert
- Godwin Andrew K.
- Godwin Eryn M.
- Gonzalez Ana Maria Angulo
- Goodman Marc
- Gopalan Anuradha
- Goparaju Chandra
- Gorincioi Ghenadie
- Govindan Ramaswamy
- Graefen Markus
- Grazi Gianluca
- Grizzle William E.
- Gross Benjamin E.
- Guillermo Armando López
- Gunaratne Preethi H.
- Guo Charles
- Ha Gavin
- Haddad Andrea
- Hagedorn Curt H.
- Hale Walker
- Han Yi
- Hanh Phan Thi
- Hansen Paul
- Harr Jodi
- Hartmann Arndt
- Haydu Lauren
- Hayes D. Neil
- Hayward Nicholas
- Heath Sharon
- Hegde Apurva M.
- Heiman David I.
- Heins Zachary J.
- Henderson Joel
- Hermes Beth
- Hernandez Brenda
- Herold-Mende Christel
- Hersey Peter
- Hess Julian
- Hibshoosh Hanina
- Hilty Joe
- Hinoue Toshinori
- Ho Thai
- Hoadley Katherine A.
- Holt Robert
- Hooke Jeffrey A.
- Hoon Dave
- Horowitz Neil
- Houck John
- Hovens Christopher
- Hoyle Alan P.
- Hu Hai
- Hu Jianhong
- Huland Hartwig
- Hung Nguyen Phi
- Huntsman David
- Hutter Carolyn M.
- Iacocca Mary
- Ittmann Michael
- Jacobus Laura
- Jakrot Valerie
- Janssen Klaus-Peter
- Jefferys Stuart R.
- Jimeno Antonio
- Jones Corbin D.
- Jones Steven J. M.
- Ju Zhenlin
- Juhl Hartmut
- Jungk Christin
- Junker Kerstin
- Kakavand Hojabr
- Kalkanis Steven
- Kanchi Rupa S.
- Kandoth Cyriac
- Kang Koo Jeong
- Karlan Beth Y.
- Kasaian Katayoon
- Kasapi Melpomeni
- Kastl Alison
- Kebebew Electron
- Kefford Richard
- Kelley Robin K.
- Kemp Rafael
- Kendall Sara
- Kendler Ady
- Kendrick Michael
- Khuri Fadlo
- Kibel Adam
- Kim Jaegil
- Knijnenburg Theo
- Knudson Michael
- Knutson Tina
- Kocher Jean-Pierre
- Kohl Bernard
- Kopp Karla
- Korchina Viktoriya
- Korkut Anil
- Korpershoek Esther
- Korst Robert
- Kovatich Albert J.
- Kramer Roger
- Kucherlapati Melanie H.
- Kucherlapati Raju S.
- Kumar Bahavna
- Kundra Ritika
- Kvecher Leonid
- Kycler Witold
- La Konnor
- Lacombe Louis
- Ladanyi Marc
- Lai Phillip H.
- Laird Peter W.
- Landen Charles N.
- Landrum Lisa
- Lang James
- Larson Caroline
- Latour Mathieu
- Lau Kevin
- Lawrence Michael S.
- Lazar Alexander J.
- Le Xuan
- Lechan Ronald
- Lee Darlene
- Lee Jung Il
- Lee Kenneth
- Lee Sandra
- Lehman Norman L.
- Leinonen Kalle
- Leraas Kristen M.
- Levine Douglas A.
- Lewis Lora
- Ley Timothy
- Li Jun
- Li Wei
- Liang Han
- Lichtenberg Tara M.
- Lin Pei
- Linehan W. Marston
- Ling Shiyun
- Lipp Eric
- Liptay Michael J.
- Liu Jia
- Liu Wenbin
- Liu Xiuping
- Liu Yuexin
- Logothetis Christopher
- Lohavanichbutr Pawadee
- Lolla Laxmi
- Long Georgina
- Longatto-Filho Adhemar
- Looijenga Leendert
- Lu Yiling
- Luketich James
- Luna Augustin
- Lyadov Vladimir
- Ma Deqin
- Ma Yussanne
- Madan Rashna
- Maglinte Dennis T.
- Magliocca Kelly
- Maithel Shishir
- Mallery David
- Malykh Andrei
- Mandt Randy
- Manikhas George
- Mann Graham
- Mannel Robert
- Mannelli Massimo
- Mardis Elaine R.
- Mariamidze Armaz
- Mariani Odette
- Marino Mirella
- Marks Jeffrey
- Marra Marco A.
- Martignetti John A.
- Martin Julie
- Mattei Luca
- Mayo Michael
- Mccall Shannon
- Mcgraw Mary
- Mckercher Ginette
- Mclellan Michael D.
- Mclendon Roger
- Mcpherson Christopher
- Meier Sam
- Melamed Jonathan
- Meng Shaowu
- Meric-Bernstam Funda
- Merola Roberta
- Mes-Masson Anne-Marie
- Metwalli Adam R.
- Meyerson Matthew
- Mieczkowski Piotr A.
- Mikkelsen Tom
- Milhem Mohammed
- Miller Christopher A.
- Miller Judy
- Miller Michael
- Mills Gordon B.
- Mirsaidi Cyrus
- Moiseenko Fedor
- Moncrieff Marc
- Moore Kathleen
- Moore Richard A.
- Moran Cesar
- Morgan Margaret
- Morris Scott
- Morrison Carl
- Morton Donna
- Mose Lisle E.
- Moser Catherine
- Moxley Katherine
- Moyer Jeffey
- Mungall Andrew J.
- Mungall Karen
- Mura Sergiu
- Mural Richard J.
- Murawa Dawid
- Muto Michael
- Muzny Donna
- Myers Jerome
- Nagorney David
- Nair Praveen
- Naresh Rashi
- Naska Theresa
- Nelson Mark
- Ng Kwok-Shing
- Nguyen Phuong
- Nissan Moriah G.
- Noble Michael S.
- Noss Ardene
- Noushmehr Houtan
- O'Brien Daniel
- O'Neill Brian Patrick
- Ochoa Angelica
- Olabode Oluwole
- Olson Jeffrey J.
- Omberg Larsson
- Oosterhuis Wolter
- Ostrom Quinn T.
- Owonikoko Taofeek
- Pacak Karel
- Paklina Oxana
- Pan Yinghong
- Parfitt Jeremy
- Park Joong-Won
- Parker Joel S.
- Pass Harvey
- Patel Ektaben
- Patel Tushar
- Patil Sagar L.
- Paulauskis Joseph
- Pennell Nathan A.
- Penny Robert
- Perin Alessandro
- Perou Amy H.
- Perou Charles M.
- Petersen Gloria
- Peterson Lisa
- Peto Myron
- Phillips Joanna
- Phillips Sarah M.
- Phu Bui Duc
- Piché Alain
- Pickens Alan
- Pihl Todd
- Pilarski Robert
- Pinero Edna M. Mora
- Pinto Peter A.
- Pirtac Maria
- Pollo Bianca
- Pool Mark
- Porten Sima
- Postier Russel
- Potapova Olga
- Powers James
- Prados Michael
- Prince Mark
- Que Florencia
- Quinn Michael
- Quintero-Aguilo Mario
- Rabeno Brenda
- Rai Karan
- Ramalingam Suresh
- Ramirez Nilsa C.
- Ramondetta Lois
- Rao Arvind
- Rassl Doris M.
- Rathmell W. Kimryn
- Raut Chandrajit P.
- Raymond Daniel
- Reis Rui M.
- Reuter Victor
- Reynolds Sheila
- Reznik Ed
- Rice David
- Richards William G.
- Rintoul Robert C.
- Rivera Michael
- Roach Jeffrey
- Roberts Lewis
- Robertson A. Gordon
- Robinson Bruce
- Roggin Kevin
- Roman-Roman Sergio
- Rosenthal Howard G.
- Rozek Laura
- Rubin Mark A.
- Ryan Michael
- Saad Fred
- Sadeghi Sara
- Saksena Gordon
- Sanchez-Vega Francisco
- Sander Chris
- Sankarankuty Ajith
- Santibanez Jireh
- Sastre Xavier
- Sauter Guido
- Saw Robyn
- Scapulatempo-Neto Cristovam
- Scarpace Lisa
- Schadendorf Dirk
- Schein Jacqueline E.
- Schiffman Mark
- Schilero Cathy
- Schlomm Thorsten
- Schmidt Heather K.
- Schmidt Laura S.
- Schoenfield Lynn
- Schultz Nikolaus
- Schumacher Steven E.
- Scolyer Richard
- Secord Angeles
- Seder Christopher W.
- Sekhon Harman
- Senecal Kelly
- Sepulveda Antonia
- Setdikova Galiya
- Sexton Katherine C.
- Shabunin Alexey
- Shannon Kerwin
- Sharp Alexis
- Shelley Carl Simon
- Shelton Candace
- Shelton Troy
- Shen Hui
- Sheridan Robert
- Sherman Mark
- Sheth Margi
- Shi Yan
- Shih Juliann
- Shimmel Kristen
- Shin Dong M.
- Shinbrot Eve
- Shipman Cassaundra
- Shmulevich Ilya
- Shriver Craig D.
- Sica Gabriel
- Sifri Suzanne
- Sigmund Rita
- Signoretti Sabina
- Silveira Henrique C. S.
- Simko Jeffry
- Simon Ronald
- Simons Janae V.
- Singer Samuel
- Singh Bhuvanesh
- Singh Rosy
- Singh Vivek P.
- Sipahimalani Payal
- Skelly Tara
- Sloan Andrew E.
- Slotta-Huspenina Julia
- Smallridge Robert
- Smith Jennifer
- Smith-McCune Karen
- Smolenski Kathy
- Smyrk Thomas
- Sofia Heidi J.
- Soloway Matthew G.
- Somiari Stella
- Somvanshi Sonal
- Sood Anil
- Sood Anil K.
- Spellman Paul
- Spillane Andrew
- Stancul Irina
- Stanton Melissa
- Staugaitis Susan M.
- Steele Ruth
- Stepa Serghei
- Stern Marc-Henri
- Stoehr Christine
- Stoehr Robert
- Stoop Hans
- Stretch Jonathan
- Stuart Joshua M.
- Su Tao
- Sumazin Pavel
- Sumer S. Onur
- Sun Qiang
- Sun Yichao
- Swanson Patricia
- Swisher Elizabeth
- Synott Maria
- Tam Angela
- Tamakawa Raina
- Tamboli Pheroze
- Tan Donghui
- Tang Yufang
- Tarnuzzer Roy
- Taubert Helge
- Tavobilov Mikhail
- Taylor Barry S.
- Tcaciuc Diana
- Tennstedt Pierre
- Thiessen Nina
- Thomas George
- Thompson Eric
- Thompson John
- Thompson R. Houston
- Thompson Timothy
- Thorp Richard
- Thorsson Vesteinn
- Tien Nguyen Viet
- Timmers Henri
- Tirapelli Daniela
- Tischler Arthur
- Torbenson Michael
- Troncoso Patricia
- Tsao Anne
- Tse Kane
- Tucker Kelinda
- Têtu Bernard
- Unterberg Andreas
- Urba Walter
- Valdivieso Federico
- Van Bang Nguyen
- Van Den Berg David J.
- van Kessel Kim E.
- Van Meir Erwin G.
- Van Tine Brian
- Vandenberg Scott
- Veluvolu Umadevi
- Vicha Ales
- Vidal Daniel O.
- Vocke Cathy D.
- Voet Doug
- von Deimling Andreas
- Voronina Olga
- Wach Sven
- Wakely Paul
- Waldmann Jens
- Walker Joan
- Wan Yunhu
- Wang Jing
- Wang Jioajiao
- Wang Linghua
- Wang Min
- Wang Timothy
- Wang Zhining
- Warnick Ronald
- Weinstein John N.
- Weisenberger Daniel J.
- Wentzensen Nicolas
- Westervelt Peter
- Wheeler David A.
- Wilkerson Matthew D.
- Williams Felicia
- Wilmott James
- Wilson Richard K.
- Wise Lisa
- Wistuba Ignacio
- Wiznerowicz Maciej
- Wolf Gregory
- Wolinsky Yingli
- Wong Christopher K.
- Wong Tina
- Worrell Robert
- Wu Ye
- Wullich Bernd
- Xi Liu
- Yang Hannah
- Yang Ian
- Yang Ju Dong
- Yang Liming
- Yau Christina
- Yena Peggy
- Zach Leigh Anne
- Zaren Howard
- Zelinka Tomas
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Hongxin
- Zhang Hongzheng
- Zhang Jiashan (Julia)
- Zhang Jiexin
- Zhang Lizhi
- Zhang Wei
- Zhao Fengmei
- Zhou Wanding
- Zmuda Erik
- Zorman Barry
- Zuna Rosemary
- Zwarthoff Ellen C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2018
- Field of study
Long noncoding RNAs (lncRNAs) are commonly dys-regulated in tumors, but only a handful are known toplay pathophysiological roles in cancer. We inferredlncRNAs that dysregulate cancer pathways, onco-genes, and tumor suppressors (cancer genes) bymodeling their effects on the activity of transcriptionfactors, RNA-binding proteins, and microRNAs in5,185 TCGA tumors and 1,019 ENCODE assays.Our predictions included hundreds of candidateonco- and tumor-suppressor lncRNAs (cancerlncRNAs) whose somatic alterations account for thedysregulation of dozens of cancer genes and path-ways in each of 14 tumor contexts. To demonstrateproof of concept, we showed that perturbations tar-geting OIP5-AS1 (an inferred tumor suppressor) andTUG1 and WT1-AS (inferred onco-lncRNAs) dysre-gulated cancer genes and altered proliferation ofbreast and gynecologic cancer cells. Our analysis in-dicates that, although most lncRNAs are dysregu-lated in a tumor-specific manner, some, includingOIP5-AS1, TUG1, NEAT1, MEG3, and TSIX, synergis-tically dysregulate cancer pathways in multiple tumorcontexts
Pan-cancer Alterations of the MYC Oncogene and Its Proximal Network across the Cancer Genome Atlas
- Author
- Abdel-Rahman Mohamed H.
- Abeshouse Adam
- Adebamowo Clement
- Adebamowo Sally N.
- Agnew Kathy
- Ahn Keunsoo
- Ajani Jaffer A.
- Akbani Rehan
- Akeredolu Teniola
- Al-Ahmadie Hikmat
- Albert Monique
- Alexopoulou Iakovina
- Ally Adrian
- Alvaro Domenico
- Anderson Matthew L.
- Andry Chris
- Angulo Gonzalez Ana Maria
- Antenucci Anna
- Anur Pavana
- Appelbaum Elizabeth L.
- Aredes Natália D.
- Armenia Joshua
- Arnaout Angel
- Asa Sylvia L.
- Auman J. Todd
- Ayer Donald E.
- Aymerich Marta
- Aziz Dina
- Bailey Matthew
- Balasundaram Miruna
- Balu Saianand
- Barnett Gene
- Barnholtz-Sloan Jill S.
- Barrett Wendi
- Bartlett John
- Bathe Oliver
- Baudin Eric
- Baylin Stephen
- Becker Karl-Friedrich
- Beer David
- Behera Madhusmita
- Behrens Carmen
- Bell Debra
- Bell Sue
- Bellair Michelle
- Bennett Joseph
- Benz Christopher
- Berchuck Andrew
- Berger Ashton C.
- Berger Ashton C.
- Bergeron Alain
- Berkowitz Ross
- Bernard Brady
- Bernard Brady
- Beroukhim Rameen
- Beuschlein Felix
- Bifulco Carlo
- Bigner Darell
- Birrer Michael
- Birsoy Kivanc
- Bocklage Therese
- Bodenheimer Tom
- Bondaruk Jolanta
- Bootwalla Moiz S.
- Borad Mitesh
- Borgia Jeffrey A.
- Bossler Aaron
- Botnariuc Natalia
- Boussioutas Alex
- Bowen Jay
- Bowlby Reanne
- Bowman Rayleen
- Bradford Carol
- Bragazzi Maria Consiglia
- Brat Daniel J.
- Breggia Anne
- Brewer Cathy
- Brimo Fadi
- Broaddus Russell
- Brooks Denise
- Broom Bradley M.
- Broudy Thomas
- Bryce Alan H.
- Bubley Glenn
- Bueno Raphael
- Burnette Andrew
- Caesar-Johnson Samantha J.
- Calatozzolo Chiara
- Campo Elias
- Campos Benito
- Caraman Irina
- Cardinale Vincenzo
- Carey Francis
- Carey Thomas
- Carlotti Carlos Gilberto
- Carlsen Rebecca
- Carney Michael
- Carpino Guido
- Carroll Peter R.
- Carter Candace
- Carvalho Andre L.
- Castle Erik
- Castro Patricia D.
- Catto James
- Cebulla Colleen M.
- Cernat Mircea
- Chabot John
- Chakravarty Debyani
- Chambwe Nyasha
- Chan June M.
- Chan Timothy A.
- Chandan Vishal
- Chang Kyle
- Chatila Walid K.
- Chemencedji Inga
- Chen Amy
- Chen Chu
- Cheng Feixiong
- Cherniack Andrew D.
- Cherniack Andrew D.
- Chesla David
- Chevalier Simone
- Cheville John
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Chung Ki
- Cibulskis Carrie
- Clipca Adrian
- Colman Howard
- Cope Leslie
- Copland John A.
- Corcoran Niall
- Cordes Matthew G.
- Costello Tony
- Cottingham Sandra
- Couce Marta
- Covington Kyle
- Crain Daniel
- Cramer Daniel
- Creaney Jenette
- Creighton Chad J.
- Cuppini Lucia
- Curley Erin
- Cuzzubbo Stefania
- Czerniak Bogdan
- Danilova Ludmila
- Davis Amy
- de Bruijn Ino
- de Carvalho Ana C.
- de Krijger Ronald
- De Rienzo Assunta
- De Rose Agostino
- Defreitas Timothy
- Delman Keith
- Demchok John A.
- Desjardins Laurence
- Devine Karen
- Deyarmin Brenda
- Dhalla Noreen
- Dhanasekaran Renumathy
- Dhankani Varsha
- Dhankani Varsha
- Dhir Rajiv
- Dimeco Francesco
- Ding Li
- Dinh Huyen
- Dinkin Mikhail
- Dipersio John
- Disaia Philip
- Doddapaneni Harshavardhan
- Donehower Lawrence A.
- Doruc Serghei
- Dos Santos Jose Sebastião
- Dottino Peter R.
- Drake Bettina
- Drummond Jennifer
- Drwiega Paul
- Dubina Michael
- Duell Rebecca
- Duffy Elizabeth R.
- Eckman John
- Edenfield W. Jeffrey
- Eijckenboom Wil
- Eisenman Robert N.
- Elder J. Bradley
- Engel Jay
- Eschbacher Jennifer
- Esmaeli Bita
- Evason Kimberley
- Facciolo Francesco
- Fan Cheng
- Fan Huihui
- Fantacone-Campbell J. Leigh
- Farnell Michael
- Farver Carol
- Fassnacht Martin
- Fehrenbach Ashley
- Felau Ina
- Feldman Michael
- Feltmate Colleen
- Ferguson Martin L.
- Finocchiaro Gaetano
- Flotte Thomas
- Fong Kwun M.
- Force Seth
- Forgie Ian
- Frazer Scott
- Fregnani José H.
- Fronick Catrina C.
- Fujimoto Junya
- Fulop Jordonna
- Fulton Lucinda A.
- Fulton Robert S.
- Gabra Hani
- Gabriel Stacey B.
- Galbraith Joseph
- Gao Galen F.
- Gao Jianjiong
- Gardner Johanna
- Gastier-Foster Julie M.
- Gaudio Eugenio
- Gehlenborg Nils
- Gerken Mark
- Gershenwald Jeffrey
- Getz Gad
- Ghossein Ronald
- Giama Nasra
- Gibbs Richard A.
- Gilbert Sebastien
- Gillis Ad
- Gimenez-Roqueplo Anne-Paule
- Giné Eva
- Giordano Thomas
- Girard Nicolas
- Giuliante Felice
- Glenn Pat
- Glenn Robert
- Godwin Andrew K.
- Godwin Eryn M.
- Goodman Marc
- Gopalan Anuradha
- Goparaju Chandra
- Gorincioi Ghenadie
- Govindan Ramaswamy
- Graefen Markus
- Grandori Carla
- Grazi Gianluca
- Grizzle William E.
- Gross Benjamin E.
- Guillermo Armando López
- Guo Charles
- Ha Gavin
- Haddad Andrea
- Hagedorn Curt H.
- Hale Walker
- Han Yi
- Hanh Phan Thi
- Hansen Paul
- Harr Jodi
- Hartmann Arndt
- Haydu Lauren
- Hayes D. Neil
- Hayward Nicholas
- Heath Sharon
- Hegde Apurva M.
- Heiman David I.
- Heins Zachary J.
- Henderson Joel
- Hermes Beth
- Hernandez Brenda
- Herold-Mende Christel
- Hersey Peter
- Hess Julian
- Hibshoosh Hanina
- Hilty Joe
- Hinoue Toshinori
- Ho Thai
- Hoadley Katherine A.
- Holt Robert
- Hooke Jeffrey A.
- Hoon Dave
- Horowitz Neil
- Houck John
- Hovens Christopher
- Hoyle Alan P.
- Hu Hai
- Hu Jianhong
- Huland Hartwig
- Hung Nguyen Phi
- Huntsman David
- Hurlin Peter J.
- Hutter Carolyn M.
- Iacocca Mary
- Ittmann Michael
- Jacobus Laura
- Jakrot Valerie
- Janssen Klaus-Peter
- Jefferys Stuart R.
- Jimeno Antonio
- Jones Corbin D.
- Jones Steven J. M.
- Ju Zhenlin
- Juhl Hartmut
- Jungk Christin
- Junker Kerstin
- Kakavand Hojabr
- Kalkanis Steven
- Kanchi Rupa S.
- Kandoth Cyriac
- Kang Koo Jeong
- Karlan Beth Y.
- Kasaian Katayoon
- Kasapi Melpomeni
- Kastl Alison
- Kebebew Electron
- Kefford Richard
- Kelley Robin K.
- Kemp Rafael
- Kendall Sara
- Kendler Ady
- Kendrick Michael
- Khuri Fadlo
- Kibel Adam
- Kim Jaegil
- Knijnenburg Theo
- Knudson Michael
- Knutson Tina
- Kocher Jean-Pierre
- Kohl Bernard
- Kopp Karla
- Korchina Viktoriya
- Korkut Anil
- Korpershoek Esther
- Korst Robert
- Kovatich Albert J.
- Kramer Roger
- Kucherlapati Melanie H.
- Kucherlapati Raju S.
- Kumar Bahavna
- Kundra Ritika
- Kvecher Leonid
- Kycler Witold
- La Konnor
- Lacombe Louis
- Ladanyi Marc
- Lai Phillip H.
- Laird Peter W.
- Landen Charles N.
- Landrum Lisa
- Lang James
- Larson Caroline
- Latour Mathieu
- Lau Kevin
- Lawrence Michael S.
- Lazar Alexander J.
- Le Xuan
- Lechan Ronald
- Lee Darlene
- Lee Jung Il
- Lee Kenneth
- Lee Sandra
- Lehman Norman L.
- Leinonen Kalle
- Leraas Kristen M.
- Levine Douglas A.
- Lewis Lora
- Ley Timothy
- Li Jun
- Li Wei
- Liang Han
- Lichtenberg Tara M.
- Lin Pei
- Linehan W. Marston
- Ling Shiyun
- Lipp Eric
- Liptay Michael J.
- Liu Jia
- Liu Wenbin
- Liu Xiuping
- Liu Yuexin
- Liu Yuexin
- Logothetis Christopher
- Lohavanichbutr Pawadee
- Lolla Laxmi
- Long Georgina
- Longatto-Filho Adhemar
- Looijenga Leendert
- Lu Yiling
- Luketich James
- Luna Augustin
- Lyadov Vladimir
- Ma Deqin
- Ma Yussanne
- Madan Rashna
- Maglinte Dennis T.
- Magliocca Kelly
- Maithel Shishir
- Mallery David
- Malykh Andrei
- Mandt Randy
- Manikhas George
- Mann Graham
- Mannel Robert
- Mannelli Massimo
- Mardis Elaine R.
- Mariamidze Armaz
- Mariani Odette
- Marino Mirella
- Marks Jeffrey
- Marra Marco A.
- Martignetti John A.
- Martin Julie
- Mattei Luca
- Mayo Michael
- Mccall Shannon
- Mcgraw Mary
- Mckercher Ginette
- Mclellan Michael D.
- Mclendon Roger
- Mcpherson Christopher
- Meier Sam
- Melamed Jonathan
- Meng Shaowu
- Meric-Bernstam Funda
- Merola Roberta
- Mes-Masson Anne-Marie
- Metwalli Adam R.
- Meyerson Matthew
- Mieczkowski Piotr A.
- Mikkelsen Tom
- Milhem Mohammed
- Miller Christopher A.
- Miller Judy
- Miller Michael
- Mills Gordon B.
- Mirsaidi Cyrus
- Moiseenko Fedor
- Moncrieff Marc
- Moore Kathleen
- Moore Richard A.
- Mora Pinero Edna M.
- Moran Cesar
- Morgan Margaret
- Morris Scott
- Morrison Carl
- Morton Donna
- Mose Lisle E.
- Moser Catherine
- Moxley Katherine
- Moyer Jeffey
- Mungall Andrew J.
- Mungall Karen
- Mura Sergiu
- Mural Richard J.
- Murawa Dawid
- Muto Michael
- Muzny Donna
- Myers Jerome
- Nagorney David
- Nair Praveen
- Naresh Rashi
- Naska Theresa
- Nelson Mark
- Ng Kwok-Shing
- Nguyen Phuong
- Nissan Moriah G.
- Noble Michael S.
- Noss Ardene
- Noushmehr Houtan
- O'Brien Daniel
- O'Neill Brian Patrick
- Ochoa Angelica
- Olabode Oluwole
- Olson Jeffrey J.
- Omberg Larsson
- Oosterhuis Wolter
- Ostrom Quinn T.
- Owonikoko Taofeek
- Pacak Karel
- Paklina Oxana
- Parfitt Jeremy
- Park Joong-Won
- Parker Joel S.
- Pass Harvey
- Patel Tushar
- Paulauskis Joseph
- Pennell Nathan A.
- Penny Robert
- Perin Alessandro
- Perou Amy H.
- Perou Charles M.
- Petersen Gloria
- Peterson Lisa
- Peto Myron
- Phillips Joanna
- Phillips Sarah M.
- Phu Bui Duc
- Piché Alain
- Pickens Alan
- Pihl Todd
- Pilarski Robert
- Pinto Peter A.
- Pirtac Maria
- Pollo Bianca
- Pool Mark
- Porten Sima
- Postier Russel
- Potapova Olga
- Powers James
- Prados Michael
- Prince Mark
- Que Florencia
- Quinn Michael
- Quintero-Aguilo Mario
- Rabeno Brenda
- Rai Karan
- Ramalingam Suresh
- Ramirez Nilsa C.
- Ramondetta Lois
- Rao Arvind
- Rassl Doris M.
- Rathmell W. Kimryn
- Raut Chandrajit P.
- Raymond Daniel
- Reis Rui M.
- Reuter Victor
- Reynolds Sheila
- Reznik Ed
- Rice David
- Richards William G.
- Richardson Anne B.
- Rintoul Robert C.
- Rivera Michael
- Roach Jeffrey
- Roberts Lewis
- Robertson A. Gordon
- Robinson Bruce
- Roggin Kevin
- Roman-Roman Sergio
- Rosenthal Howard G.
- Rozek Laura
- Rubin Mark A.
- Ryan Michael
- Saad Fred
- Sadeghi Sara
- Saksena Gordon
- Sanchez-Vega Francisco
- Sander Chris
- Sankarankuty Ajith
- Santibanez Jireh
- Sastre Xavier
- Sauter Guido
- Saw Robyn
- Scapulatempo-Neto Cristovam
- Scarpace Lisa
- Schadendorf Dirk
- Schaub Franz X.
- Schein Jacqueline E.
- Schiffman Mark
- Schilero Cathy
- Schlomm Thorsten
- Schmidt Heather K.
- Schmidt Laura S.
- Schoenfield Lynn
- Schultz Nikolaus
- Schumacher Steven E.
- Scolyer Richard
- Secord Angeles
- Seder Christopher W.
- Sekhon Harman
- Senecal Kelly
- Sepulveda Antonia
- Setdikova Galiya
- Sexton Katherine C.
- Shabunin Alexey
- Shannon Kerwin
- Sharp Alexis
- Shaw Reid
- Shelley Carl Simon
- Shelton Candace
- Shelton Troy
- Shen Hui
- Sheridan Robert
- Sherman Mark
- Sheth Margi
- Shi Yan
- Shih Juliann
- Shimmel Kristen
- Shin Dong M.
- Shinbrot Eve
- Shipman Cassaundra
- Shmulevich Ilya
- Shriver Craig D.
- Sica Gabriel
- Sifri Suzanne
- Sigmund Rita
- Signoretti Sabina
- Silveira Henrique C. S.
- Simko Jeffry
- Simon Ronald
- Simons Janae V.
- Singer Samuel
- Singh Bhuvanesh
- Singh Rosy
- Sipahimalani Payal
- Skelly Tara
- Sloan Andrew E.
- Slotta-Huspenina Julia
- Smallridge Robert
- Smith Jennifer
- Smith-McCune Karen
- Smolenski Kathy
- Smyrk Thomas
- Sofia Heidi J.
- Soloway Matthew G.
- Somiari Stella
- Sood Anil
- Spellman Paul
- Spillane Andrew
- Stancul Irina
- Stanton Melissa
- Staugaitis Susan M.
- Steele Ruth
- Stepa Serghei
- Stern Marc-Henri
- Stoehr Christine
- Stoehr Robert
- Stoop Hans
- Stretch Jonathan
- Stuart Joshua M.
- Su Tao
- Sumer S. Onur
- Sun Qiang
- Sun Yichao
- Swanson Patricia
- Swisher Elizabeth
- Synott Maria
- Tam Angela
- Tamakawa Raina
- Tamboli Pheroze
- Tan Donghui
- Tang Yufang
- Tarnuzzer Roy
- Taubert Helge
- Tavobilov Mikhail
- Taylor Barry S.
- Tcaciuc Diana
- Tennstedt Pierre
- Thiessen Nina
- Thomas George
- Thompson Eric
- Thompson John
- Thompson R. Houston
- Thompson Timothy
- Thorp Richard
- Thorsson Vesteinn
- Tien Nguyen Viet
- Timmers Henri
- Tirapelli Daniela
- Tischler Arthur
- Torbenson Michael
- Trivedi Mihir
- Troncoso Patricia
- Tsao Anne
- Tse Kane
- Tucker Kelinda
- Têtu Bernard
- Unterberg Andreas
- Urba Walter
- Valdivieso Federico
- Van Bang Nguyen
- Van Den Berg David J.
- van Kessel Kim E.
- Van Meir Erwin G.
- Van Tine Brian
- Vandenberg Scott
- Veluvolu Umadevi
- Ventura Andrea
- Vicha Ales
- Vidal Daniel O.
- Vocke Cathy D.
- Voet Doug
- von Deimling Andreas
- Voronina Olga
- Wach Sven
- Wakely Paul
- Waldmann Jens
- Walker Joan
- Wan Yunhu
- Wang Jing
- Wang Jioajiao
- Wang Linghua
- Wang Min
- Wang Timothy
- Wang Zhining
- Warnick Ronald
- Weinstein John N.
- Weisenberger Daniel J.
- Wentzensen Nicolas
- Westervelt Peter
- Wheeler David A.
- Wilkerson Matthew D.
- Williams Felicia
- Wilmott James
- Wilson Richard K.
- Wise Lisa
- Wistuba Ignacio
- Wiznerowicz Maciej
- Wolf Gregory
- Wolinsky Yingli
- Wong Christopher K.
- Wong Tina
- Worrell Robert
- Wu Ye
- Wullich Bernd
- Xi Liu
- Yang Hannah
- Yang Ian
- Yang Ju Dong
- Yang Liming
- Yau Christina
- Yena Peggy
- Zach Leigh Anne
- Zaren Howard
- Zelinka Tomas
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Hongxin
- Zhang Hongzheng
- Zhang Jiashan (Julia)
- Zhang Jiexin
- Zhang Lizhi
- Zhang Wei
- Zhang Xiaoyang
- Zhao Fengmei
- Zhao Wei
- Zhou Wanding
- Zmuda Erik
- Zuna Rosemary
- Zwarthoff Ellen C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2018
- Field of study
Although theMYConcogene has been implicated incancer, a systematic assessment of alterations ofMYC, related transcription factors, and co-regulatoryproteins, forming the proximal MYC network (PMN),across human cancers is lacking. Using computa-tional approaches, we define genomic and proteo-mic features associated with MYC and the PMNacross the 33 cancers of The Cancer Genome Atlas.Pan-cancer, 28% of all samples had at least one ofthe MYC paralogs amplified. In contrast, the MYCantagonists MGA and MNT were the most frequentlymutated or deleted members, proposing a roleas tumor suppressors.MYCalterations were mutu-ally exclusive withPIK3CA,PTEN,APC,orBRAFalterations, suggesting that MYC is a distinct onco-genic driver. Expression analysis revealed MYC-associated pathways in tumor subtypes, such asimmune response and growth factor signaling; chro-matin, translation, and DNA replication/repair wereconserved pan-cancer. This analysis reveals insightsinto MYC biology and is a reference for biomarkersand therapeutics for cancers with alterations ofMYC or the PMN
Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas
- Author
- Abdel-Rahman Mohamed H.
- Abeshouse Adam
- Adebamowo Clement
- Adebamowo Sally N.
- Agnew Kathy
- Ahn Keunsoo
- Ajani Jaffer A.
- Akbani Rehan
- Akbani Rehan
- Akeredolu Teniola
- Al-Ahmadie Hikmat
- Al-Ahmadie Hikmat
- Albert Monique
- Alexopoulou Iakovina
- Ally Adrian
- Alvaro Domenico
- Anderson Matthew L.
- Andry Chris
- Antenucci Anna
- Anur Pavana
- Anur Pavana
- Appelbaum Elizabeth L.
- Aredes Natália D.
- Armenia Joshua
- Arnaout Angel
- Asa Sylvia L.
- Auman J. Todd
- Aymerich Marta
- Aziz Dina
- Bailey Matthew
- Balasundaram Miruna
- Balu Saianand
- Barnett Gene
- Barnholtz-Sloan Jill S.
- Barrett Wendi
- Bartlett John
- Bathe Oliver
- Baudin Eric
- Baylin Stephen
- Becker Karl-Friedrich
- Beer David
- Behera Madhusmita
- Behrens Carmen
- Bell Debra
- Bell Sue
- Bellair Michelle
- Bennett Joseph
- Benz Christopher
- Benz Christopher
- Berchuck Andrew
- Berger Ashton C.
- Bergeron Alain
- Berkowitz Ross
- Bernard Brady
- Beroukhim Rameen
- Beuschlein Felix
- Bifulco Carlo
- Bigner Darell
- Birrer Michael
- Birsoy Kivanc
- Bocklage Therese
- Bodenheimer Tom
- Bondaruk Jolanta
- Bootwalla Moiz S.
- Borad Mitesh
- Borgia Jeffrey A.
- Bossler Aaron
- Botnariuc Natalia
- Boussioutas Alex
- Bowen Jay
- Bowlby Reanne
- Bowlby Reanne
- Bowman Rayleen
- Bradford Carol
- Bragazzi Maria Consiglia
- Brat Daniel J.
- Breggia Anne
- Brennan Kevin
- Brewer Cathy
- Brimo Fadi
- Broaddus Russell
- Brooks Denise
- Broom Bradley M.
- Broudy Thomas
- Bryce Alan H.
- Bubley Glenn
- Bueno Raphael
- Bullman Susan
- Burnette Andrew
- Byers Lauren Averett
- Caesar-Johnson Samantha J.
- Calatozzolo Chiara
- Campbell Joshua D.
- Campo Elias
- Campos Benito
- Caraman Irina
- Cardinale Vincenzo
- Carey Francis
- Carey Thomas
- Carlotti Carlos Gilberto
- Carlsen Rebecca
- Carney Michael
- Carpino Guido
- Carroll Peter R.
- Carter Candace
- Carvalho Andre L.
- Castle Erik
- Castro Patricia D.
- Catto James
- Cebulla Colleen M.
- Cernat Mircea
- Chabot John
- Chakravarty Debyani
- Chambwe Nyasha
- Chan June M.
- Chan Timothy A.
- Chandan Vishal
- Chang Kyle
- Chatila Walid K.
- Chemencedji Inga
- Chen Amy
- Chen Chu
- Chen Jianhong
- Chen Ting-Wen
- Chen Zhong
- Cheng Feixiong
- Cheng Hui
- Cherniack Andrew D.
- Cherniack Andrew D.
- Chesla David
- Chevalier Simone
- Cheville John
- Chiu Hua-Sheng
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Chung Ki
- Cibulskis Carrie
- Clipca Adrian
- Coarfa Cristian
- Colman Howard
- Cope Leslie
- Copland John A.
- Corcoran Niall
- Cordes Matthew G.
- Costello Tony
- Cottingham Sandra
- Couce Marta
- Covington Kyle
- Crain Daniel
- Cramer Daniel
- Creaney Jenette
- Creighton Chad J.
- Creighton Chad J.
- Cuppini Lucia
- Curley Erin
- Cuzzubbo Stefania
- Czerniak Bogdan
- Danilova Ludmila
- Davis Amy
- de Bruijn Ino
- de Carvalho Ana C.
- de Krijger Ronald
- De Rienzo Assunta
- De Rose Agostino
- Defreitas Timothy
- Delman Keith
- Demchok John A.
- Desjardins Laurence
- Devine Karen
- Deyarmin Brenda
- Dhalla Noreen
- Dhanasekaran Renumathy
- Dhankani Varsha
- Dhir Rajiv
- Diao Lixia
- Dimeco Francesco
- Ding Li
- Dinh Huyen
- Dinkin Mikhail
- Dipersio John
- Disaia Philip
- Doddapaneni Harshavardhan
- Donehower Larry
- Donehower Lawrence A.
- Doruc Serghei
- Dos Santos Jose Sebastião
- Dottino Peter R.
- Drake Bettina
- Drill Esther
- Drummond Jennifer
- Drwiega Paul
- Dubina Michael
- Duell Rebecca
- Duffy Elizabeth R.
- Eckman John
- Edenfield W. Jeffrey
- Eijckenboom Wil
- Elder J. Bradley
- Engel Jay
- Eschbacher Jennifer
- Esmaeli Bita
- Evason Kimberley
- Facciolo Francesco
- Fan Cheng
- Fan Huihui
- Fan Huihui
- Fantacone-Campbell J. Leigh
- Farnell Michael
- Farver Carol
- Fassnacht Martin
- Fehrenbach Ashley
- Felau Ina
- Feldman Michael
- Feltmate Colleen
- Ferguson Martin L.
- Finocchiaro Gaetano
- Flores Elsa R.
- Flotte Thomas
- Fong Kwun M.
- Force Seth
- Forgie Ian
- Frazer Scott
- Fregnani José H.
- Fronick Catrina C.
- Fujimoto Junya
- Fulop Jordonna
- Fulton Lucinda A.
- Fulton Robert S.
- Gabra Hani
- Gabriel Stacey B.
- Galbraith Joseph
- Gao Galen F.
- Gao Jianjiong
- Gardner Johanna
- Gastier-Foster Julie M.
- Gaudio Eugenio
- Gay Carl M.
- Gehlenborg Nils
- Gerken Mark
- Gershenwald Jeffrey
- Getz Gad
- Gevaert Olivier
- Ghossein Ronald
- Giama Nasra
- Gibbs Richard A.
- Gilbert Sebastien
- Gillis Ad
- Gimenez-Roqueplo Anne-Paule
- Giné Eva
- Giordano Thomas
- Girard Nicolas
- Giuliante Felice
- Glenn Pat
- Glenn Robert
- Godwin Andrew K.
- Godwin Eryn M.
- Gonzalez Ana Maria Angulo
- Goodman Marc
- Gopalan Anuradha
- Goparaju Chandra
- Gorincioi Ghenadie
- Govindan Ramaswamy
- Graefen Markus
- Grazi Gianluca
- Grizzle William E.
- Gross Benjamin E.
- Guillermo Armando López
- Gunaratne Preethi
- Guo Charles
- Ha Gavin
- Haddad Andrea
- Hagedorn Curt H.
- Hale Walker
- Han Yi
- Hanh Phan Thi
- Hansen Paul
- Harr Jodi
- Hartmann Arndt
- Haydu Lauren
- Hayes D. Neil
- Hayes D. Neil
- Hayward Nicholas
- Heath Sharon
- Hegde Apurva
- Hegde Apurva M.
- Heiman David I.
- Heins Zachary J.
- Henderson Joel
- Hermes Beth
- Hernandez Brenda
- Herold-Mende Christel
- Hersey Peter
- Hess Julian
- Hibshoosh Hanina
- Hilty Joe
- Hinoue Toshinori
- Ho Thai
- Hoadley Katherine A.
- Hoadley Katherine A.
- Holt Robert
- Hooke Jeffrey A.
- Hoon Dave
- Horowitz Neil
- Houck John
- Hovens Christopher
- Hoyle Alan P.
- Hu Hai
- Hu Jianhong
- Huland Hartwig
- Hung Nguyen Phi
- Huntsman David
- Hutter Carolyn M.
- Iacocca Mary
- Ittmann Michael
- Jacobus Laura
- Jakrot Valerie
- Janssen Klaus-Peter
- Jefferys Stuart R.
- Jimeno Antonio
- Jones Corbin D.
- Jones Steven J. M.
- Ju Zhenlin
- Juhl Hartmut
- Jungk Christin
- Junker Kerstin
- Kakavand Hojabr
- Kalkanis Steven
- Kanchi Rupa S.
- Kanchi Rupa S.
- Kandoth Cyriac
- Kang Koo Jeong
- Karlan Beth Y.
- Kasaian Katayoon
- Kasapi Melpomeni
- Kastl Alison
- Kebebew Electron
- Kefford Richard
- Kelley Robin K.
- Kemp Rafael
- Kendall Sara
- Kendler Ady
- Kendrick Michael
- Khuri Fadlo
- Kibel Adam
- Kim Jaegil
- Knijnenburg Theo
- Knudson Michael
- Knutson Tina
- Kocher Jean-Pierre
- Kohl Bernard
- Kopp Karla
- Korchina Viktoriya
- Korkut Anil
- Korpershoek Esther
- Korst Robert
- Kovatich Albert J.
- Kramer Roger
- Kucherlapati Melanie H.
- Kucherlapati Raju S.
- Kumar Bahavna
- Kundra Ritika
- Kvecher Leonid
- Kycler Witold
- La Konnor
- Lacombe Louis
- Ladanyi Marc
- Lai Phillip H.
- Laird Peter W.
- Laird Peter W.
- Landen Charles N.
- Landrum Lisa
- Lang James
- Larson Caroline
- Latour Mathieu
- Lau Kevin
- Lawrence Michael S.
- Lazar Alexander J.
- Lazar Alexander J.
- Le Xuan
- Lechan Ronald
- Lee Darlene
- Lee Jung Il
- Lee Kenneth
- Lee Sandra
- Lehman Norman L.
- Leinonen Kalle
- Leraas Kristen M.
- Levine Douglas A.
- Lewis Lora
- Ley Timothy
- Li Jun
- Li Wei
- Liang Han
- Lichtenberg Tara M.
- Lin Pei
- Linehan W. Marston
- Ling Shiyun
- Lipp Eric
- Liptay Michael J.
- Liu Jia
- Liu Wenbin
- Liu Xiuping
- Liu Yuexin
- Liu Yuexin
- Logothetis Christopher
- Lohavanichbutr Pawadee
- Lolla Laxmi
- Long Georgina
- Longatto-Filho Adhemar
- Looijenga Leendert
- Lu Yiling
- Luketich James
- Luna Augustin
- Lyadov Vladimir
- Ma Deqin
- Ma Wencai
- Ma Yussanne
- Madan Rashna
- Maglinte Dennis T.
- Magliocca Kelly
- Maithel Shishir
- Mallery David
- Malykh Andrei
- Mandt Randy
- Manikhas George
- Mann Graham
- Mannel Robert
- Mannelli Massimo
- Mardis Elaine R.
- Mariamidze Armaz
- Mariani Odette
- Marino Mirella
- Marks Jeffrey
- Marra Marco A.
- Martignetti John A.
- Martin Julie
- Mattei Luca
- Mayo Michael
- Mccall Shannon
- Mcgraw Mary
- Mckercher Ginette
- Mclellan Michael D.
- Mclendon Roger
- Mcpherson Christopher
- Meier Sam
- Melamed Jonathan
- Meng Shaowu
- Meric-Bernstam Funda
- Merola Roberta
- Mes-Masson Anne-Marie
- Metwalli Adam R.
- Meyerson Matthew
- Mieczkowski Piotr A.
- Mikkelsen Tom
- Milhem Mohammed
- Miller Christopher A.
- Miller Judy
- Miller Michael
- Mills Gordon B.
- Mirsaidi Cyrus
- Moiseenko Fedor
- Moncrieff Marc
- Moore Kathleen
- Moore Richard A.
- Moran Cesar
- Morgan Margaret
- Morris Scott
- Morrison Carl
- Morton Donna
- Mose Lisle E.
- Moser Catherine
- Moxley Katherine
- Moyer Jeffey
- Mungall Andrew J.
- Mungall Karen
- Mungall Karen L.
- Mura Sergiu
- Mural Richard J.
- Murawa Dawid
- Muto Michael
- Muzny Donna
- Myers Jerome
- Nagorney David
- Nair Praveen
- Naresh Rashi
- Naska Theresa
- Nelson Mark
- Ng Kwok-Shing
- Nguyen Phuong
- Nissan Moriah G.
- Noble Michael S.
- Noss Ardene
- Noushmehr Houtan
- O'Brien Daniel
- O'Neill Brian Patrick
- Ochoa Angelica
- Ojesina Akinyemi I.
- Olabode Oluwole
- Olson Jeffrey J.
- Omberg Larsson
- Oosterhuis Wolter
- Ostrom Quinn T.
- Owonikoko Taofeek
- Pacak Karel
- Paklina Oxana
- Parfitt Jeremy
- Park Joong-Won
- Parker Joel S.
- Pass Harvey
- Patel Tushar
- Paulauskis Joseph
- Pedamallu Chandra Sekhar
- Pennell Nathan A.
- Penny Robert
- Perin Alessandro
- Perou Amy H.
- Perou Charles M.
- Petersen Gloria
- Peterson Lisa
- Peto Myron
- Peto Myron
- Phillips Joanna
- Phillips Sarah M.
- Phu Bui Duc
- Piché Alain
- Pickens Alan
- Pickering Curtis R.
- Pihl Todd
- Pilarski Robert
- Pinero Edna M. Mora
- Pinto Peter A.
- Pirtac Maria
- Pollo Bianca
- Pool Mark
- Porten Sima
- Postier Russel
- Potapova Olga
- Powers James
- Prados Michael
- Prince Mark
- Prunello Marcos
- Que Florencia
- Quinn Michael
- Quintero-Aguilo Mario
- Rabeno Brenda
- Rader Janet S.
- Rai Karan
- Ramalingam Suresh
- Ramirez Nilsa C.
- Ramondetta Lois
- Rao Arvind
- Rassl Doris M.
- Rathmell W. Kimryn
- Raut Chandrajit P.
- Raymond Daniel
- Reis Rui M.
- Reuter Victor
- Reynolds Sheila
- Reznik Ed
- Rice David
- Richards William G.
- Rintoul Robert C.
- Rivera Michael
- Roach Jeffrey
- Roberts Lewis
- Robertson A. Gordon
- Robertson A. Gordon
- Robinson Bruce
- Roggin Kevin
- Roman-Roman Sergio
- Rosenthal Howard G.
- Rozek Laura
- Rubin Mark A.
- Rustgi Anil K.
- Ryan Michael
- Saad Fred
- Sadeghi Sara
- Sadeghi Sara
- Saksena Gordon
- Sanchez-Vega Francisco
- Sander Chris
- Sankarankuty Ajith
- Santibanez Jireh
- Sastre Xavier
- Sauter Guido
- Saw Robyn
- Scapulatempo-Neto Cristovam
- Scarpace Lisa
- Schadendorf Dirk
- Schein Jacqueline E.
- Schiffman Mark
- Schilero Cathy
- Schlomm Thorsten
- Schmidt Heather K.
- Schmidt Laura S.
- Schoenfield Lynn
- Schultz Andre
- Schultz Nikolaus
- Schumacher Steven E.
- Scolyer Richard
- Secord Angeles
- Seder Christopher W.
- Sekhon Harman
- Senecal Kelly
- Sepulveda Antonia
- Setdikova Galiya
- Sexton Katherine C.
- Shabunin Alexey
- Shannon Kerwin
- Sharp Alexis
- Shelley Carl Simon
- Shelton Candace
- Shelton Troy
- Shen Hui
- Shen Hui
- Shen Ronglei
- Sheridan Robert
- Sherman Mark
- Sheth Margi
- Shi Yan
- Shih Juliann
- Shih Juliann
- Shimmel Kristen
- Shin Dong M.
- Shinbrot Eve
- Shipman Cassaundra
- Shmulevich Ilya
- Shriver Craig D.
- Sica Gabriel
- Sifri Suzanne
- Sigmund Rita
- Signoretti Sabina
- Silveira Henrique C. S.
- Simko Jeffry
- Simon Ronald
- Simons Janae V.
- Singer Samuel
- Singh Bhuvanesh
- Singh Rosy
- Sipahimalani Payal
- Skelly Tara
- Sloan Andrew E.
- Slotta-Huspenina Julia
- Smallridge Robert
- Smith Jennifer
- Smith-McCune Karen
- Smolenski Kathy
- Smyrk Thomas
- Sofia Heidi J.
- Soloway Matthew G.
- Somiari Stella
- Sood Anil
- Spellman Paul
- Spillane Andrew
- Stancul Irina
- Stanton Melissa
- Staugaitis Susan M.
- Steele Ruth
- Stepa Serghei
- Stern Marc-Henri
- Stoehr Christine
- Stoehr Robert
- Stoop Hans
- Stretch Onathan
- Stuart Joshua M.
- Stuart Joshua M.
- Su Tao
- Sumazin Pavel
- Sumer S. Onur
- Sun Qiang
- Sun Yichao
- Swanson Patricia
- Swisher Elizabeth
- Synott Maria
- Tam Angela
- Tamakawa Raina
- Tamboli Pheroze
- Tan Donghui
- Tang Yufang
- Tarnuzzer Roy
- Taubert Helge
- Tavobilov Mikhail
- Taylor Alison M.
- Taylor Barry S.
- Tcaciuc Diana
- Tennstedt Pierre
- Thiessen Nina
- Thomas George
- Thompson Eric
- Thompson John
- Thompson R. Houston
- Thompson Timothy
- Thorp Richard
- Thorsson Vesteinn
- Tien Nguyen Viet
- Timmers Henri
- Tirapelli Daniela
- Tischler Arthur
- Torbenson Michael
- Troncoso Patricia
- Tsai Kenneth Y.
- Tsao Anne
- Tse Kane
- Tucker Kelinda
- Têtu Bernard
- Unterberg Andreas
- Urba Walter
- Valdivieso Federico
- Van Bang Nguyen
- Van Den Berg David J.
- van Kessel Kim E.
- Van Meir Erwin G.
- Van Tine Brian
- Van Waes Carter
- Vandenberg Scott
- Veluvolu Umadevi
- Vicha Ales
- Vidal Daniel O.
- Vocke Cathy D.
- Voet Doug
- von Deimling Andreas
- Voronina Olga
- Wach Sven
- Wakely Paul
- Waldmann Jens
- Walker Joan
- Walter Vonn
- Wan Yunhu
- Wang Chen
- Wang Jing
- Wang Jing
- Wang Jioajiao
- Wang Linghua
- Wang Min
- Wang Timothy
- Wang Zhining
- Warnick Ronald
- Weinstein John N.
- Weinstein John N.
- Weisenberger Daniel J.
- Wentzensen Nicolas
- Westervelt Peter
- Wheeler David A.
- Wilkerson Matthew D.
- Williams Felicia
- Wilmott James
- Wilson Richard K.
- Wise Lisa
- Wistuba Ignacio
- Wiznerowicz Maciej
- Wolf Gregory
- Wolinsky Yingli
- Wong Christopher K.
- Wong Christopher K.
- Wong Tina
- Worrell Robert
- Wu Ye
- Wullich Bernd
- Xi Liu
- Yang Hannah
- Yang Ian
- Yang Ju Dong
- Yang Liming
- Yau Christina
- Yau Christina
- Yena Peggy
- Zach Leigh Anne
- Zaren Howard
- Zelinka Tomas
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Hongxin
- Zhang Hongzheng
- Zhang Jiashan (Julia)
- Zhang Jiexin
- Zhang Lizhi
- Zhang Wei
- Zhao Fengmei
- Zhou Jane H.
- Zhou Wanding
- Zmuda Erik
- Zuna Rosemary
- Zuna Rosemary
- Zwarthoff Ellen C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2018
- Field of study
This integrated, multiplatform PanCancer Atlas study co-mapped and identified distinguishing
molecular features of squamous cell carcinomas (SCCs) from five sites associated with smokin
Spatial Organization and Molecular Correlation of Tumor-Infiltrating Lymphocytes Using Deep Learning on Pathology Images
- Author
- Abdel-Rahman Mohamed H.
- Abeshouse Adam
- Adebamowo Clement
- Adebamowo Sally N.
- Agnew Kathy
- Ahn Keunsoo
- Ajani Jaffer A.
- Akbani Rehan
- Akeredolu Teniola
- Al-Ahmadie Hikmat
- Albert Monique
- Alexopoulou Iakovina
- Ally Adrian
- Alvaro Domenico
- Anderson Matthew L.
- Andry Chris
- Antenucci Anna
- Anur Pavana
- Appelbaum Elizabeth L.
- Aredes Natália D.
- Armenia Joshua
- Arnaout Angel
- Asa Sylvia L.
- Auman J. Todd
- Aymerich Marta
- Aziz Dina
- Bailey Matthew
- Balasundaram Miruna
- Balu Saianand
- Barnett Gene
- Barnholtz-Sloan Jill S.
- Barrett Wendi
- Bartlett John
- Bathe Oliver
- Batiste Rebecca
- Baudin Eric
- Baylin Stephen
- Becker Karl-Friedrich
- Beer David
- Behera Madhusmita
- Behrens Carmen
- Bell Debra
- Bell Sue
- Bellair Michelle
- Bennett Joseph
- Benz Christopher
- Berchuck Andrew
- Berger Ashton C.
- Bergeron Alain
- Berkowitz Ross
- Bernard Brady
- Beroukhim Rameen
- Beuschlein Felix
- Bifulco Carlo
- Bigner Darell
- Birrer Michael
- Birsoy Kivanc
- Bocklage Therese
- Bodenheimer Tom
- Bondaruk Jolanta
- Bootwalla Moiz S.
- Borad Mitesh
- Borgia Jeffrey A.
- Bossler Aaron
- Botnariuc Natalia
- Boussioutas Alex
- Bowen Jay
- Bowlby Reanne
- Bowman Rayleen
- Bradford Carol
- Bragazzi Maria Consiglia
- Brat Daniel J.
- Breggia Anne
- Brewer Cathy
- Brimo Fadi
- Broaddus Russell
- Brooks Denise
- Broom Bradley M.
- Broudy Thomas
- Bryce Alan H.
- Bubley Glenn
- Bueno Raphael
- Burnette Andrew
- Caesar-Johnson Samantha J.
- Calatozzolo Chiara
- Campo Elias
- Campos Benito
- Caraman Irina
- Cardinale Vincenzo
- Carey Francis
- Carey Thomas
- Carlotti Carlos Gilberto
- Carlsen Rebecca
- Carney Michael
- Carpino Guido
- Carroll Peter R.
- Carter Candace
- Carvalho Andre L.
- Castle Erik
- Castro Patricia D.
- Catto James
- Cebulla Colleen M.
- Cernat Mircea
- Chabot John
- Chakravarty Debyani
- Chambwe Nyasha
- Chan June M.
- Chan Timothy A.
- Chandan Vishal
- Chang Kyle
- Chatila Walid K.
- Chemencedji Inga
- Chen Amy
- Chen Chu
- Cheng Feixiong
- Cherniack Andrew D.
- Chesla David
- Chevalier Simone
- Cheville John
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Chung Ki
- Cibulskis Carrie
- Clipca Adrian
- Colman Howard
- Cope Leslie
- Copland John A.
- Corcoran Niall
- Cordes Matthew G.
- Costello Tony
- Cottingham Sandra
- Couce Marta
- Covington Kyle
- Crain Daniel
- Cramer Daniel
- Creaney Jenette
- Creighton Chad J.
- Cuppini Lucia
- Curley Erin
- Cuzzubbo Stefania
- Czerniak Bogdan
- Danilova Ludmila
- Davis Amy
- de Bruijn Ino
- de Carvalho Ana C.
- de Krijger Ronald
- De Rienzo Assunta
- De Rose Agostino
- Defreitas Timothy
- Delman Keith
- Demchok John A.
- Desjardins Laurence
- Devine Karen
- Deyarmin Brenda
- Dhalla Noreen
- Dhanasekaran Renumathy
- Dhankani Varsha
- Dhir Rajiv
- Dimeco Francesco
- Ding Li
- Dinh Huyen
- Dinkin Mikhail
- Dipersio John
- Disaia Philip
- Doddapaneni Harshavardhan
- Donehower Lawrence A.
- Doruc Serghei
- Dos Santos Jose Sebastião
- Dottino Peter R.
- Drake Bettina
- Drummond Jennifer
- Drwiega Paul
- Dubina Michael
- Duell Rebecca
- Duffy Elizabeth R.
- Eckman John
- Edenfield W. Jeffrey
- Eijckenboom Wil
- Elder J. Bradley
- Engel Jay
- Eschbacher Jennifer
- Esmaeli Bita
- Evason Kimberley
- Facciolo Francesco
- Fan Cheng
- Fan Huihui
- Fantacone-Campbell J. Leigh
- Farnell Michael
- Farver Carol
- Fassnacht Martin
- Fehrenbach Ashley
- Felau Ina
- Feldman Michael
- Feltmate Colleen
- Ferguson Martin L.
- Finocchiaro Gaetano
- Flotte Thomas
- Fong Kwun M.
- Force Seth
- Forgie Ian
- Frazer Scott
- Fregnani José H.
- Fronick Catrina C.
- Fujimoto Junya
- Fulop Jordonna
- Fulton Lucinda A.
- Fulton Robert S.
- Gabra Hani
- Gabriel Stacey B.
- Galbraith Joseph
- Gao Galen F.
- Gao Jianjiong
- Gardner Johanna
- Gastier-Foster Julie M.
- Gaudio Eugenio
- Gehlenborg Nils
- Gerken Mark
- Gershenwald Jeffrey
- Getz Gad
- Ghossein Ronald
- Giama Nasra
- Gibbs Richard A.
- Gilbert Sebastien
- Gillis Ad
- Gimenez-Roqueplo Anne-Paule
- Giné Eva
- Giordano Thomas
- Girard Nicolas
- Giuliante Felice
- Glenn Pat
- Glenn Robert
- Godwin Andrew K.
- Godwin Eryn M.
- Gonzalez Ana Maria Angulo
- Goodman Marc
- Gopalan Anuradha
- Goparaju Chandra
- Gorincioi Ghenadie
- Govindan Ramaswamy
- Graefen Markus
- Grazi Gianluca
- Grizzle William E.
- Gross Benjamin E.
- Guillermo Armando López
- Guo Charles
- Gupta Rajarsi
- Ha Gavin
- Haddad Andrea
- Hagedorn Curt H.
- Hale Walker
- Han Yi
- Hanh Phan Thi
- Hansen Paul
- Harr Jodi
- Hartmann Arndt
- Haydu Lauren
- Hayes D. Neil
- Hayward Nicholas
- Heath Sharon
- Hegde Apurva M.
- Heiman David I.
- Heins Zachary J.
- Henderson Joel
- Hermes Beth
- Hernandez Brenda
- Herold-Mende Christel
- Hersey Peter
- Hess Julian
- Hibshoosh Hanina
- Hilty Joe
- Hinoue Toshinori
- Ho Thai
- Hoadley Katherine A.
- Holt Robert
- Hooke Jeffrey A.
- Hoon Dave
- Horowitz Neil
- Hou Le
- Houck John
- Hovens Christopher
- Hoyle Alan P.
- Hu Hai
- Hu Jianhong
- Huland Hartwig
- Hung Nguyen Phi
- Huntsman David
- Hutter Carolyn M.
- Iacocca Mary
- Ittmann Michael
- Jacobus Laura
- Jakrot Valerie
- Janssen Klaus-Peter
- Jefferys Stuart R.
- Jimeno Antonio
- Jones Corbin D.
- Jones Steven J. M.
- Ju Zhenlin
- Juhl Hartmut
- Jungk Christin
- Junker Kerstin
- Kakavand Hojabr
- Kalkanis Steven
- Kanchi Rupa S.
- Kandoth Cyriac
- Kang Koo Jeong
- Karlan Beth Y.
- Kasaian Katayoon
- Kasapi Melpomeni
- Kastl Alison
- Kebebew Electron
- Kefford Richard
- Kelley Robin K.
- Kemp Rafael
- Kendall Sara
- Kendler Ady
- Kendrick Michael
- Khuri Fadlo
- Kibel Adam
- Kim Jaegil
- Knijnenburg Theo
- Knudson Michael
- Knutson Tina
- Kocher Jean-Pierre
- Kohl Bernard
- Kopp Karla
- Korchina Viktoriya
- Korkut Anil
- Korpershoek Esther
- Korst Robert
- Kovatich Albert J.
- Kramer Roger
- Kucherlapati Melanie H.
- Kucherlapati Raju S.
- Kumar Bahavna
- Kundra Ritika
- Kurc Tahsin
- Kvecher Leonid
- Kycler Witold
- La Konnor
- Lacombe Louis
- Ladanyi Marc
- Lai Phillip H.
- Laird Peter W.
- Landen Charles N.
- Landrum Lisa
- Lang James
- Larson Caroline
- Latour Mathieu
- Lau Kevin
- Lawrence Michael S.
- Lazar Alexander J.
- Lazar Alexander J.
- Le Xuan
- Lechan Ronald
- Lee Darlene
- Lee Jung Il
- Lee Kenneth
- Lee Sandra
- Lehman Norman L.
- Leinonen Kalle
- Leraas Kristen M.
- Levine Douglas A.
- Lewis Lora
- Ley Timothy
- Li Jun
- Li Wei
- Liang Han
- Lichtenberg Tara M.
- Lin Pei
- Linehan W. Marston
- Ling Shiyun
- Lipp Eric
- Liptay Michael J.
- Liu Jia
- Liu Wenbin
- Liu Xiuping
- Liu Yuexin
- Logothetis Christopher
- Lohavanichbutr Pawadee
- Lolla Laxmi
- Long Georgina
- Longatto-Filho Adhemar
- Looijenga Leendert
- Lu Yiling
- Luketich James
- Luna Augustin
- Lyadov Vladimir
- Ma Deqin
- Ma Yussanne
- Madan Rashna
- Maglinte Dennis T.
- Magliocca Kelly
- Maithel Shishir
- Mallery David
- Malykh Andrei
- Mandt Randy
- Manikhas George
- Mann Graham
- Mannel Robert
- Mannelli Massimo
- Mardis Elaine R.
- Mariamidze Armaz
- Mariani Odette
- Marino Mirella
- Marks Jeffrey
- Marra Marco A.
- Martignetti John A.
- Martin Julie
- Mattei Luca
- Mayo Michael
- Mccall Shannon
- Mcgraw Mary
- Mckercher Ginette
- Mclellan Michael D.
- Mclendon Roger
- Mcpherson Christopher
- Meier Sam
- Melamed Jonathan
- Meng Shaowu
- Meric-Bernstam Funda
- Merola Roberta
- Mes-Masson Anne-Marie
- Metwalli Adam R.
- Meyerson Matthew
- Mieczkowski Piotr A.
- Mikkelsen Tom
- Milhem Mohammed
- Miller Christopher A.
- Miller Judy
- Miller Michael
- Mills Gordon B.
- Mirsaidi Cyrus
- Moiseenko Fedor
- Moncrieff Marc
- Moore Kathleen
- Moore Richard A.
- Moran Cesar
- Morgan Margaret
- Morris Scott
- Morrison Carl
- Morton Donna
- Mose Lisle E.
- Moser Catherine
- Moxley Katherine
- Moyer Jeffey
- Mungall Andrew J.
- Mungall Karen
- Mura Sergiu
- Mural Richard J.
- Murawa Dawid
- Muto Michael
- Muzny Donna
- Myers Jerome
- Nagorney David
- Nair Praveen
- Naresh Rashi
- Naska Theresa
- Nelson Mark
- Ng Kwok-Shing
- Nguyen Phuong
- Nguyen Vu
- Nissan Moriah G.
- Noble Michael S.
- Noss Ardene
- Noushmehr Houtan
- O'Brien Daniel
- O'Neill Brian Patrick
- Ochoa Angelica
- Olabode Oluwole
- Olson Jeffrey J.
- Omberg Larsson
- Oosterhuis Wolter
- Ostrom Quinn T.
- Owonikoko Taofeek
- Pacak Karel
- Paklina Oxana
- Parfitt Jeremy
- Park Joong-Won
- Parker Joel S.
- Pass Harvey
- Patel Tushar
- Paulauskis Joseph
- Pennell Nathan A.
- Penny Robert
- Perin Alessandro
- Perou Amy H.
- Perou Charles M.
- Petersen Gloria
- Peterson Lisa
- Peto Myron
- Phillips Joanna
- Phillips Sarah M.
- Phu Bui Duc
- Piché Alain
- Pickens Alan
- Pihl Todd
- Pilarski Robert
- Pinero Edna M. Mora
- Pinto Peter A.
- Pirtac Maria
- Pollo Bianca
- Pool Mark
- Porten Sima
- Postier Russel
- Potapova Olga
- Powers James
- Prados Michael
- Prince Mark
- Que Florencia
- Quinn Michael
- Quintero-Aguilo Mario
- Rabeno Brenda
- Rai Karan
- Ramalingam Suresh
- Ramirez Nilsa C.
- Ramondetta Lois
- Rao Arvind
- Rao Arvind U. K.
- Rassl Doris M.
- Rathmell W. Kimryn
- Raut Chandrajit P.
- Raymond Daniel
- Reis Rui M.
- Reuter Victor
- Reynolds Sheila
- Reznik Ed
- Rice David
- Richards William G.
- Rintoul Robert C.
- Rivera Michael
- Roach Jeffrey
- Roberts Lewis
- Robertson A. Gordon
- Robinson Bruce
- Roggin Kevin
- Roman-Roman Sergio
- Rosenthal Howard G.
- Rozek Laura
- Rubin Mark A.
- Ryan Michael
- Saad Fred
- Sadeghi Sara
- Saksena Gordon
- Saltz Joel
- Samaras Dimitris
- Sanchez-Vega Francisco
- Sander Chris
- Sankarankuty Ajith
- Santibanez Jireh
- Sastre Xavier
- Sauter Guido
- Saw Robyn
- Scapulatempo-Neto Cristovam
- Scarpace Lisa
- Schadendorf Dirk
- Schein Jacqueline E.
- Schiffman Mark
- Schilero Cathy
- Schlomm Thorsten
- Schmidt Heather K.
- Schmidt Laura S.
- Schoenfield Lynn
- Schultz Nikolaus
- Schumacher Steven E.
- Scolyer Richard
- Secord Angeles
- Seder Christopher W.
- Sekhon Harman
- Senecal Kelly
- Sepulveda Antonia
- Setdikova Galiya
- Sexton Katherine C.
- Shabunin Alexey
- Shannon Kerwin
- Sharma Ashish
- Sharp Alexis
- Shelley Carl Simon
- Shelton Candace
- Shelton Troy
- Shen Hui
- Sheridan Robert
- Sherman Mark
- Sheth Margi
- Shi Yan
- Shih Juliann
- Shimmel Kristen
- Shin Dong M.
- Shinbrot Eve
- Shipman Cassaundra
- Shmulevich Ilya
- Shmulevich Ilya
- Shriver Craig D.
- Shroyer Kenneth R.
- Sica Gabriel
- Sifri Suzanne
- Sigmund Rita
- Signoretti Sabina
- Silveira Henrique C. S.
- Simko Jeffry
- Simon Ronald
- Simons Janae V.
- Singer Samuel
- Singh Bhuvanesh
- Singh Pankaj
- Singh Rosy
- Sipahimalani Payal
- Skelly Tara
- Sloan Andrew E.
- Slotta-Huspenina Julia
- Smallridge Robert
- Smith Jennifer
- Smith-McCune Karen
- Smolenski Kathy
- Smyrk Thomas
- Sofia Heidi J.
- Soloway Matthew G.
- Somiari Stella
- Sood Anil
- Spellman Paul
- Spillane Andrew
- Stancul Irina
- Stanton Melissa
- Staugaitis Susan M.
- Steele Ruth
- Stepa Serghei
- Stern Marc-Henri
- Stoehr Christine
- Stoehr Robert
- Stoop Hans
- Stretch Onathan
- Stuart Joshua M.
- Su Tao
- Sumer S. Onur
- Sun Qiang
- Sun Yichao
- Swanson Patricia
- Swisher Elizabeth
- Synott Maria
- Tam Angela
- Tamakawa Raina
- Tamboli Pheroze
- Tan Donghui
- Tang Yufang
- Tarnuzzer Roy
- Taubert Helge
- Tavobilov Mikhail
- Taylor Barry S.
- Tcaciuc Diana
- Tennstedt Pierre
- Thiessen Nina
- Thomas George
- Thompson Eric
- Thompson John
- Thompson R. Houston
- Thompson Timothy
- Thorp Richard
- Thorsson Vesteinn
- Thorsson Vésteinn
- Tien Nguyen Viet
- Timmers Henri
- Tirapelli Daniela
- Tischler Arthur
- Torbenson Michael
- Troncoso Patricia
- Tsao Anne
- Tse Kane
- Tucker Kelinda
- Têtu Bernard
- Unterberg Andreas
- Urba Walter
- Valdivieso Federico
- Van Arnam John
- Van Bang Nguyen
- Van Den Berg David J.
- van Kessel Kim E.
- Van Meir Erwin G.
- Van Tine Brian
- Vandenberg Scott
- Veluvolu Umadevi
- Vicha Ales
- Vidal Daniel O.
- Vocke Cathy D.
- Voet Doug
- von Deimling Andreas
- Voronina Olga
- Wach Sven
- Wakely Paul
- Waldmann Jens
- Walker Joan
- Wan Yunhu
- Wang Jing
- Wang Jioajiao
- Wang Linghua
- Wang Min
- Wang Timothy
- Wang Zhining
- Warnick Ronald
- Weinstein John N.
- Weisenberger Daniel J.
- Wentzensen Nicolas
- Westervelt Peter
- Wheeler David A.
- Wilkerson Matthew D.
- Williams Felicia
- Wilmott James
- Wilson Richard K.
- Wise Lisa
- Wistuba Ignacio
- Wiznerowicz Maciej
- Wolf Gregory
- Wolinsky Yingli
- Wong Christopher K.
- Wong Tina
- Worrell Robert
- Wu Ye
- Wullich Bernd
- Xi Liu
- Yang Hannah
- Yang Ian
- Yang Ju Dong
- Yang Liming
- Yau Christina
- Yena Peggy
- Zach Leigh Anne
- Zaren Howard
- Zelinka Tomas
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Hongxin
- Zhang Hongzheng
- Zhang Jiashan (Julia)
- Zhang Jiexin
- Zhang Lizhi
- Zhang Wei
- Zhao Fengmei
- Zhao Tianhao
- Zhou Wanding
- Zmuda Erik
- Zuna Rosemary
- Zwarthoff Ellen C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2018
- Field of study
Beyond sample curation and basic pathologic characterization, the digitized H&E-stained images
of TCGA samples remain underutilized. To highlight this resource, we present mappings of tumorinfiltrating lymphocytes (TILs) based on H&E images from 13 TCGA tumor types. These TIL
maps are derived through computational staining using a convolutional neural network trained to
classify patches of images. Affinity propagation revealed local spatial structure in TIL patterns and
correlation with overall survival. TIL map structural patterns were grouped using standard
histopathological parameters. These patterns are enriched in particular T cell subpopulations
derived from molecular measures. TIL densities and spatial structure were differentially enriched
among tumor types, immune subtypes, and tumor molecular subtypes, implying that spatial
infiltrate state could reflect particular tumor cell aberration states. Obtaining spatial lymphocytic
patterns linked to the rich genomic characterization of TCGA samples demonstrates one use for
the TCGA image archives with insights into the tumor-immune microenvironment
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
- Author
- Amaral Michelle
- Amendola Laura
- Amendola Laura M.
- Appelbaum Paul S.
- Appelbaum Paul S.
- Aronson Samuel J.
- Arora Shubhangi
- Azzariti Danielle R.
- Barsh Greg S.
- Bebin E.M.
- Berg Jonathan S.
- Bernhardt Barbara A.
- Biesecker Barbara B.
- Biesecker Leslie G.
- Biesecker Leslie G.
- Biswas Sawona
- Biswas Sawona
- Blout Carrie L.
- Blout Carrie L.
- Bowling Kevin M.
- Bowling Kevin M.
- Breitkopf Carmen Radecki
- Brothers Kyle B.
- Brothers Kyle B.
- Brown Brian L.
- Burke Wylie
- Burt Amber A.
- Byers Peter H.
- Caga-anan Charlisse F.
- Caga-anan Charlisse F.
- Calikoglu Muge G.
- Carlson Sara J.
- Chahin Nizar
- Chinnaiyan Arul M.
- Chinnaiyan Arul M.
- Christensen Kurt D.
- Chung Wendy
- Chung Wendy K.
- Cirino Allison L.
- Clayton Ellen
- Clayton Ellen W.
- Conlin Laura K.
- Cooper Gregory M.
- Cooper Greg M.
- Crosslin David R.
- Davis James V.
- Davis Kelly
- Deardorff Matthew A.
- Devkota Batsal
- De Vries Raymond
- Diamond Pamela
- Dorschner Michael O.
- Dugan Noreen P.
- Dukhovny Dmitry
- Dulik Matthew C.
- East Kelly
- East Kelly M.
- Evans Barbara
- Evans James P.
- Evans James P.
- Everett Jessica
- Exe Nicole
- Fan Zheng
- Feuerman Lindsay Z.
- Filipski Kelly
- Finnila Candice R.
- Fishler Kristen
- Fullerton Stephanie M.
- Fullerton Stephanie M.
- Garraway Levi A.
- Garrett Jeremy R.
- Ghrundmeier Bob
- Giles Karen
- Gilmore Marian J.
- Girnary Zahra S.
- Goddard Katrina
- Goddard Katrina A.B.
- Gonsalves Steven
- Gordon Adam S.
- Gornick Michele C.
- Grady William M.
- Gray David E.
- Gray Stacy W.
- Gray Stacy W.
- Green Robert
- Green Robert C.
- Greenwood Robert S.
- Gutierrez Amanda M.
- Han Paul
- Hart Ragan
- Heagerty Patrick
- Henderson Gail E.
- Henderson Gail E.
- Hensman Naomi
- Hiatt Susan M.
- Himes Patricia
- Hindorff Lucia A.
- Hindorff Lucia A.
- Hisama Fuki M.
- Ho Carolyn Y.
- Hoffman-Andrews Lily B.
- Holm Ingrid A.
- Holm Ingrid A.
- Hong Celine
- Horike-Pyne Martha J.
- Hull Sara
- Hutter Carolyn M.
- Hutter Carolyn M.
- Jamal Seema
- Janne Pasi A.
- Jarvik Gail P.
- Jarvik Gail P.
- Jensen Brian C.
- Joffe Steve
- Joffe Steven
- Johnston Jennifer
- Karavite Dean
- Kauffman Tia L.
- Kaufman Dave
- Kaufman David
- Kelley Whitley
- Kim Jerry H.
- Kirby Christine
- Klein William
- Knoppers Bartha
- Knoppers Bartha M.
- Koenig Barbara A.
- Koenig Barbara A.
- Kong Sek Won
- Krantz Ian
- Krantz Ian D.
- Krier Joel B.
- Lamb Neil E.
- Lambert Michele P.
- Le Lan Q.
- Lebo Matthew S.
- Lee Alexander
- Lee Kaitlyn B.
- Lennon Niall
- Leo Michael C.
- Leppig Kathleen A.
- Lewis Katie
- Lewis Michelle
- Lewis Michelle Huckaby
- Lindeman Neal I.
- Lockhart Nicole
- Lonigro Bob
- Lose Edward J.
- Lupo Philip J.
- Lynch Frances
- Machini Kalotina
- MacRae Calum
- Manolio Teri A.
- Manolio Teri A.
- Marchuk Daniel S.
- Martinez Josue N.
- Masino Aaron
- McCullough Laurence
- McCullough Laurence
- McEwen Jean
- McEwen Jean
- McGuire Amy
- McGuire Amy
- McLaughlin Heather M.
- McMullen Carmit
- Mieczkowski Piotr A.
- Miller Jeff
- Miller Victoria A.
- Mody Rajen
- Mooney Sean D.
- Moore Elizabeth G.
- Morris Elissa
- Murray Michael
- Muzny Donna
- Muzny Donna
- Myers Richard M.
- Myers Richard M.
- Ng David
- Nickerson Deborah A.
- Nickerson Deborah A.
- Oliver Nelly M.
- Ou Jeffrey
- Ou Jeffrey
- Parsons Donald W.
- Parsons Will
- Patrick Donald L.
- Pennington Jeffrey
- Perry Denise L.
- Petersen Gloria
- Petersen Gloria M.
- Plon Sharon
- Plon Sharon E.
- Porter Katie
- Powell Bradford C.
- Punj Sumit
- Raesz-Martinez Robin A.
- Raskind Wendy H.
- Rehm Heidi L.
- Rehm Heidi L.
- Reigar Dean A.
- Reiss Jacob A.
- Rich Carla A.
- Richards Carolyn Sue
- Rini Christine
- Rivera-Munoz Edgar A.
- Roberts J. Scott
- Roberts Scott
- Robertson Peggy D.
- Robinson Dan
- Robinson Dan
- Robinson Jill O.
- Robinson Marguerite E.
- Roche Myra I.
- Rodriguez Laura Lyman
- Romasko Edward J.
- Rosenthal Elisabeth A.
- Salama Joseph
- Salama Joseph S.
- Scarano Maria I.
- Schneider Jennifer
- Scollon Sarah
- Scollon Sarah
- Seidman Christine E.
- Seifert Bryce A.
- Sharp Richard R.
- Sharp Richard R.
- Shirts Brian
- Shirts Brian H.
- Sholl Lynette M.
- Siddiqui Javed
- Silverman Elian
- Simmons Shirley
- Simons Janae V.
- Skinner Debra
- Spinner Nancy B.
- Spinner Nancy B.
- Stoffel Elena
- Strande Natasha T.
- Sunyaev Shamil
- Sybert Virginia P.
- Taber Jennifer
- Tabor Holly K.
- Tabor Holly K.
- Tarczy-Hornoch Peter
- Tarczy-Hornoch Peter
- Taylor Deanne M.
- Tilley Christian R.
- Tomlinson Ashley
- Trinidad Susan
- Tsai Ellen
- Ubel Peter
- Van Allen Eliezer M.
- Vassy Jason L.
- Vats Pankaj
- Veenstra David L.
- Veenstra David L.
- Vetter Victoria L.
- Vries Raymond D.
- Wagle Nikhil
- Wagle Nikhil
- Walser Sarah A.
- Walsh Rebecca C.
- Weck Karen
- Weck Karen
- Werner-Lin Allison
- Whittle Jana
- Wilfond Ben
- Wilfond Benjamin S.
- Wilhelmsen Kirk
- Wilhelmsen Kirk C.
- Wolf Susan M.
- Wolf Susan M.
- Wynn Julia
- Wynn Julia
- Yang Yaping
- Young Carol
- Yu Joon-Ho
- Yu Joon-Ho
- Zikmund-Fisher Brian J.
- Publication venue
- Publication date
- 01/01/2016
- Field of study
Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine
Integrated Genomic Analysis of the Ubiquitin Pathway across Cancer Types
- Author
- Abdel-Rahman Mohamed H.
- Abeshouse Adam
- Adebamowo Clement
- Adebamowo Sally N.
- Agnew Kathy
- Ahn Keunsoo
- Ajani Jaffer A.
- Akbani Rehan
- Akeredolu Teniola
- Al-Ahmadie Hikmat
- Albert Monique
- Alexopoulou Iakovina
- Ally Adrian
- Alvaro Domenico
- Anderson Matthew L.
- Andry Chris
- Antenucci Anna
- Anur Pavana
- Appelbaum Elizabeth L.
- Aredes Natália D.
- Armenia Joshua
- Arnaout Angel
- Asa Sylvia L.
- Auman J. Todd
- Aymerich Marta
- Aziz Dina
- Bailey Matthew
- Balasundaram Miruna
- Balu Saianand
- Barnett Gene
- Barnholtz-Sloan Jill S.
- Barrett Wendi
- Bartlett John
- Bathe Oliver
- Baudin Eric
- Baylin Stephen
- Becker Karl-Friedrich
- Beer David
- Behera Madhusmita
- Behrens Carmen
- Bell Debra
- Bell Sue
- Bellair Michelle
- Bennett Joseph
- Benz Christopher
- Berchuck Andrew
- Berger Ashton C.
- Bergeron Alain
- Berkowitz Ross
- Bernard Brady
- Beroukhim Rameen
- Beuschlein Felix
- Bifulco Carlo
- Bigner Darell
- Birrer Michael
- Birsoy Kivanc
- Bocklage Therese
- Bodenheimer Tom
- Bondaruk Jolanta
- Bootwalla Moiz S.
- Borad Mitesh
- Borgia Jeffrey A.
- Bossler Aaron
- Botnariuc Natalia
- Boussioutas Alex
- Bowen Jay
- Bowlby Reanne
- Bowman Rayleen
- Bradford Carol
- Bragazzi Maria Consiglia
- Brat Daniel J.
- Breggia Anne
- Brewer Cathy
- Brimo Fadi
- Broaddus Russell
- Brooks Denise
- Broom Bradley M.
- Broudy Thomas
- Bryce Alan H.
- Bubley Glenn
- Bueno Raphael
- Burnette Andrew
- Caesar-Johnson Samantha J.
- Calatozzolo Chiara
- Campo Elias
- Campos Benito
- Caraman Irina
- Cardinale Vincenzo
- Carey Francis
- Carey Thomas
- Carlotti Carlos Gilberto
- Carlsen Rebecca
- Carney Michael
- Carpino Guido
- Carroll Peter R.
- Carter Candace
- Carvalho Andre L.
- Castle Erik
- Castro Patricia D.
- Catto James
- Cebulla Colleen M.
- Cernat Mircea
- Chabot John
- Chakravarty Debyani
- Chambwe Nyasha
- Chan June M.
- Chan Timothy A.
- Chandan Vishal
- Chang Kyle
- Chatila Walid K.
- Chemencedji Inga
- Chen Amy
- Chen Chu
- Chen Hu
- Chen Zhongyuan
- Cheng Feixiong
- Cherniack Andrew D.
- Chesla David
- Chevalier Simone
- Cheville John
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Chung Ki
- Cibulskis Carrie
- Clipca Adrian
- Colman Howard
- Cope Leslie
- Copland John A.
- Corcoran Niall
- Cordes Matthew G.
- Costello Tony
- Cottingham Sandra
- Couce Marta
- Covington Kyle
- Crain Daniel
- Cramer Daniel
- Creaney Jenette
- Creighton Chad J.
- Cuppini Lucia
- Curley Erin
- Cuzzubbo Stefania
- Czerniak Bogdan
- Danilova Ludmila
- Davis Amy
- de Bruijn Ino
- de Carvalho Ana C.
- de Krijger Ronald
- De Rienzo Assunta
- De Rose Agostino
- Defreitas Timothy
- Delman Keith
- Demchok John A.
- Desjardins Laurence
- Devine Karen
- Deyarmin Brenda
- Dhalla Noreen
- Dhanasekaran Renumathy
- Dhankani Varsha
- Dhir Rajiv
- Dimeco Francesco
- Ding Li
- Dinh Huyen
- Dinkin Mikhail
- Dipersio John
- Disaia Philip
- Doddapaneni Harshavardhan
- Donehower Lawrence A.
- Doruc Serghei
- Dos Santos Jose Sebastião
- Dottino Peter R.
- Drake Bettina
- Drummond Jennifer
- Drwiega Paul
- Dubina Michael
- Duell Rebecca
- Duffy Elizabeth R.
- Eckman John
- Edenfield W. Jeffrey
- Eijckenboom Wil
- Elder J. Bradley
- Engel Jay
- Eschbacher Jennifer
- Esmaeli Bita
- Evason Kimberley
- Facciolo Francesco
- Fan Cheng
- Fan Huihui
- Fantacone-Campbell J. Leigh
- Farnell Michael
- Farver Carol
- Fassnacht Martin
- Fehrenbach Ashley
- Felau Ina
- Feldman Michael
- Feltmate Colleen
- Ferguson Martin L.
- Finocchiaro Gaetano
- Flotte Thomas
- Fong Kwun M.
- Force Seth
- Forgie Ian
- Frazer Scott
- Fregnani José H.
- Fronick Catrina C.
- Fujimoto Junya
- Fulop Jordonna
- Fulton Lucinda A.
- Fulton Robert S.
- Gabra Hani
- Gabriel Stacey B.
- Galbraith Joseph
- Gao Galen F.
- Gao Jianjiong
- Gardner Johanna
- Gastier-Foster Julie M.
- Gaudio Eugenio
- Ge Zhongqi
- Gehlenborg Nils
- Gerken Mark
- Gershenwald Jeffrey
- Getz Gad
- Ghossein Ronald
- Giama Nasra
- Gibbs Richard A.
- Gilbert Sebastien
- Gillis Ad
- Gimenez-Roqueplo Anne-Paule
- Giné Eva
- Giordano Thomas
- Girard Nicolas
- Giuliante Felice
- Glenn Pat
- Glenn Robert
- Godwin Andrew K.
- Godwin Eryn M.
- Gonzalez Ana Maria Angulo
- Goodman Marc
- Gopalan Anuradha
- Goparaju Chandra
- Gorincioi Ghenadie
- Govindan Ramaswamy
- Graefen Markus
- Grazi Gianluca
- Grizzle William E.
- Gross Benjamin E.
- Guillermo Armando López
- Guo Charles
- Ha Gavin
- Haddad Andrea
- Hagedorn Curt H.
- Hale Walker
- Han Yi
- Hanh Phan Thi
- Hansen Paul
- Harr Jodi
- Hartmann Arndt
- Haydu Lauren
- Hayes D. Neil
- Hayward Nicholas
- Heath Sharon
- Hegde Apurva M.
- Heiman David I.
- Heins Zachary J.
- Henderson Joel
- Hermes Beth
- Hernandez Brenda
- Herold-Mende Christel
- Hersey Peter
- Hess Julian
- Hibshoosh Hanina
- Hilty Joe
- Hinoue Toshinori
- Ho Thai
- Hoadley Katherine A.
- Holt Robert
- Hooke Jeffrey A.
- Hoon Dave
- Horowitz Neil
- Houck John
- Hovens Christopher
- Hoyle Alan P.
- Hu Hai
- Hu Hai
- Hu Jianhong
- Huland Hartwig
- Hung Nguyen Phi
- Huntsman David
- Hutter Carolyn M.
- Iacocca Mary
- Ittmann Michael
- Jacobus Laura
- Jakrot Valerie
- Janssen Klaus-Peter
- Jefferys Stuart R.
- Jimeno Antonio
- Jones Corbin D.
- Jones Steven J. M.
- Ju Zhenlin
- Juhl Hartmut
- Jungk Christin
- Junker Kerstin
- Kakavand Hojabr
- Kalkanis Steven
- Kanchi Rupa S.
- Kandoth Cyriac
- Kang Koo Jeong
- Karlan Beth Y.
- Kasaian Katayoon
- Kasapi Melpomeni
- Kastl Alison
- Kebebew Electron
- Kefford Richard
- Kelley Robin K.
- Kemp Rafael
- Kendall Sara
- Kendler Ady
- Kendrick Michael
- Khuri Fadlo
- Kibel Adam
- Kim Jaegil
- Knijnenburg Theo
- Knudson Michael
- Knutson Tina
- Kocher Jean-Pierre
- Kohl Bernard
- Kopp Karla
- Korchina Viktoriya
- Korkut Anil
- Korpershoek Esther
- Korst Robert
- Kovatich Albert J.
- Kramer Roger
- Kucherlapati Melanie H.
- Kucherlapati Raju S.
- Kumar Bahavna
- Kundra Ritika
- Kvecher Leonid
- Kycler Witold
- La Konnor
- Lacombe Louis
- Ladanyi Marc
- Lai Phillip H.
- Laird Peter W.
- Landen Charles N.
- Landrum Lisa
- Lang James
- Larson Caroline
- Latour Mathieu
- Lau Kevin
- Lawrence Michael S.
- Lazar Alexander J.
- Le Xuan
- Lechan Ronald
- Lee Darlene
- Lee Jung Il
- Lee Kenneth
- Lee Sandra
- Lehman Norman L.
- Leighton Jake S.
- Leinonen Kalle
- Leraas Kristen M.
- Levine Douglas A.
- Lewis Lora
- Ley Timothy
- Li Jun
- Li Jun
- Li Wei
- Liang Han
- Liang Han
- Lichtenberg Tara M.
- Lin Pei
- Linehan W. Marston
- Ling Shiyun
- Lipp Eric
- Liptay Michael J.
- Liu Jia
- Liu Jianfang
- Liu Wenbin
- Liu Xiuping
- Liu Yuexin
- Logothetis Christopher
- Lohavanichbutr Pawadee
- Lolla Laxmi
- Long Georgina
- Longatto-Filho Adhemar
- Looijenga Leendert
- Lu Yiling
- Luketich James
- Luna Augustin
- Lyadov Vladimir
- Ma Deqin
- Ma Li
- Ma Yussanne
- Madan Rashna
- Maglinte Dennis T.
- Magliocca Kelly
- Maithel Shishir
- Mallery David
- Malykh Andrei
- Mandt Randy
- Manikhas George
- Mann Graham
- Mannel Robert
- Mannelli Massimo
- Mardis Elaine R.
- Mariamidze Armaz
- Mariani Odette
- Marino Mirella
- Marks Jeffrey
- Marra Marco A.
- Martignetti John A.
- Martin Julie
- Mattei Luca
- Mayo Michael
- Mccall Shannon
- Mcgraw Mary
- Mckercher Ginette
- Mclellan Michael D.
- Mclendon Roger
- Mcpherson Christopher
- Meier Sam
- Melamed Jonathan
- Meng Shaowu
- Meric-Bernstam Funda
- Merola Roberta
- Mes-Masson Anne-Marie
- Metwalli Adam R.
- Meyerson Matthew
- Mieczkowski Piotr A.
- Mikkelsen Tom
- Milhem Mohammed
- Miller Christopher A.
- Miller Judy
- Miller Michael
- Mills Gordon B.
- Mirsaidi Cyrus
- Moiseenko Fedor
- Moncrieff Marc
- Moore Kathleen
- Moore Richard A.
- Moran Cesar
- Morgan Margaret
- Morris Scott
- Morrison Carl
- Morton Donna
- Mose Lisle E.
- Moser Catherine
- Moxley Katherine
- Moyer Jeffey
- Mungall Andrew J.
- Mungall Karen
- Mura Sergiu
- Mural Richard J.
- Murawa Dawid
- Muto Michael
- Muzny Donna
- Myers Jerome
- Nagorney David
- Nair Praveen
- Naresh Rashi
- Naska Theresa
- Nelson Mark
- Ng Kwok-Shing
- Nguyen Phuong
- Nissan Moriah G.
- Noble Michael S.
- Noss Ardene
- Noushmehr Houtan
- O'Brien Daniel
- O'Neill Brian Patrick
- Ochoa Angelica
- Olabode Oluwole
- Olson Jeffrey J.
- Omberg Larsson
- Oosterhuis Wolter
- Ostrom Quinn T.
- Owonikoko Taofeek
- Pacak Karel
- Paklina Oxana
- Parfitt Jeremy
- Park Joong-Won
- Parker Joel S.
- Pass Harvey
- Patel Tushar
- Paulauskis Joseph
- Peng Xinxin
- Pennell Nathan A.
- Penny Robert
- Perin Alessandro
- Perou Amy H.
- Perou Charles M.
- Petersen Gloria
- Peterson Lisa
- Peto Myron
- Phillips Joanna
- Phillips Sarah M.
- Phu Bui Duc
- Piché Alain
- Pickens Alan
- Pihl Todd
- Pilarski Robert
- Pinero Edna M. Mora
- Pinto Peter A.
- Pirtac Maria
- Piwnica-Worms Helen
- Pollo Bianca
- Pool Mark
- Porten Sima
- Postier Russel
- Potapova Olga
- Powers James
- Prados Michael
- Prince Mark
- Que Florencia
- Quinn Michael
- Quintero-Aguilo Mario
- Rabeno Brenda
- Rai Karan
- Ramalingam Suresh
- Ramirez Nilsa C.
- Ramondetta Lois
- Rao Arvind
- Rassl Doris M.
- Rathmell W. Kimryn
- Raut Chandrajit P.
- Raymond Daniel
- Reis Rui M.
- Reuter Victor
- Reynolds Sheila
- Reznik Ed
- Rice David
- Richards William G.
- Rintoul Robert C.
- Rivera Michael
- Roach Jeffrey
- Roberts Lewis
- Robertson A. Gordon
- Robinson Bruce
- Roggin Kevin
- Roman-Roman Sergio
- Rosenthal Howard G.
- Rozek Laura
- Rubin Mark A.
- Ryan Michael
- Saad Fred
- Sadeghi Sara
- Saksena Gordon
- Sanchez-Vega Francisco
- Sander Chris
- Sankarankuty Ajith
- Santibanez Jireh
- Sastre Xavier
- Sauter Guido
- Saw Robyn
- Scapulatempo-Neto Cristovam
- Scarpace Lisa
- Schadendorf Dirk
- Schein Jacqueline E.
- Schiffman Mark
- Schilero Cathy
- Schlomm Thorsten
- Schmidt Heather K.
- Schmidt Laura S.
- Schoenfield Lynn
- Schultz Nikolaus
- Schumacher Steven E.
- Scolyer Richard
- Secord Angeles
- Seder Christopher W.
- Sekhon Harman
- Senecal Kelly
- Sepulveda Antonia
- Setdikova Galiya
- Sexton Katherine C.
- Shabunin Alexey
- Shannon Kerwin
- Sharp Alexis
- Shelley Carl Simon
- Shelton Candace
- Shelton Troy
- Shen Hui
- Sheridan Robert
- Sherman Mark
- Sheth Margi
- Shi Yan
- Shih Juliann
- Shimmel Kristen
- Shin Dong M.
- Shinbrot Eve
- Shipman Cassaundra
- Shmulevich Ilya
- Shriver Craig D.
- Shriver Craig D.
- Sica Gabriel
- Sifri Suzanne
- Sigmund Rita
- Signoretti Sabina
- Silveira Henrique C. S.
- Simko Jeffry
- Simon Ronald
- Simons Janae V.
- Singer Samuel
- Singh Bhuvanesh
- Singh Rosy
- Sipahimalani Payal
- Skelly Tara
- Sloan Andrew E.
- Slotta-Huspenina Julia
- Smallridge Robert
- Smith Jennifer
- Smith-McCune Karen
- Smolenski Kathy
- Smyrk Thomas
- Sofia Heidi J.
- Soloway Matthew G.
- Somiari Stella
- Sood Anil
- Spellman Paul
- Spillane Andrew
- Stancul Irina
- Stanton Melissa
- Staugaitis Susan M.
- Steele Ruth
- Stepa Serghei
- Stern Marc-Henri
- Stoehr Christine
- Stoehr Robert
- Stoop Hans
- Stretch Jonathan
- Stuart Joshua M.
- Su Tao
- Sumer S. Onur
- Sun Qiang
- Sun Yichao
- Sun Yutong
- Swanson Patricia
- Swisher Elizabeth
- Synott Maria
- Tam Angela
- Tamakawa Raina
- Tamboli Pheroze
- Tan Donghui
- Tang Yufang
- Tarnuzzer Roy
- Taubert Helge
- Tavobilov Mikhail
- Taylor Barry S.
- Tcaciuc Diana
- Tennstedt Pierre
- Thiessen Nina
- Thomas George
- Thompson Eric
- Thompson John
- Thompson R. Houston
- Thompson Timothy
- Thorp Richard
- Thorsson Vesteinn
- Tien Nguyen Viet
- Timmers Henri
- Tirapelli Daniela
- Tischler Arthur
- Torbenson Michael
- Troncoso Patricia
- Tsao Anne
- Tse Kane
- Tucker Kelinda
- Têtu Bernard
- Unterberg Andreas
- Urba Walter
- Valdivieso Federico
- Van Bang Nguyen
- Van Den Berg David J.
- van Kessel Kim E.
- Van Meir Erwin G.
- Van Tine Brian
- Vandenberg Scott
- Veluvolu Umadevi
- Vicha Ales
- Vidal Daniel O.
- Vocke Cathy D.
- Voet Doug
- von Deimling Andreas
- Voronina Olga
- Wach Sven
- Wakely Paul
- Waldmann Jens
- Walker Joan
- Wan Yunhu
- Wang Jing
- Wang Jioajiao
- Wang Linghua
- Wang Min
- Wang Timothy
- Wang Yumeng
- Wang Zhining
- Warnick Ronald
- Weinstein John N.
- Weisenberger Daniel J.
- Wentzensen Nicolas
- Westervelt Peter
- Wheeler David A.
- Wilkerson Matthew D.
- Williams Felicia
- Wilmott James
- Wilson Richard K.
- Wise Lisa
- Wistuba Ignacio
- Wiznerowicz Maciej
- Wolf Gregory
- Wolinsky Yingli
- Wong Christopher K.
- Wong Tina
- Worrell Robert
- Wu Ye
- Wullich Bernd
- Xi Liu
- Yang Hannah
- Yang Ian
- Yang Ju Dong
- Yang Liming
- Yao Fan
- Yau Christina
- Yena Peggy
- Zach Leigh Anne
- Zaren Howard
- Zelinka Tomas
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Hongxin
- Zhang Hongzheng
- Zhang Huiwen
- Zhang Jiashan (Julia)
- Zhang Jiexin
- Zhang Lizhi
- Zhang Wei
- Zhao Fengmei
- Zhou Wanding
- Zmuda Erik
- Zuna Rosemary
- Zwarthoff Ellen C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2018
- Field of study
Protein ubiquitination is a dynamic and reversibleprocess of adding single ubiquitin molecules orvarious ubiquitin chains to target proteins. Here,using multidimensional omic data of 9,125 tumorsamples across 33 cancer types from The CancerGenome Atlas, we perform comprehensive molecu-lar characterization of 929 ubiquitin-related genesand 95 deubiquitinase genes. Among them, we sys-tematically identify top somatic driver candidates,including mutatedFBXW7with cancer-type-specificpatterns and amplifiedMDM2showing a mutuallyexclusive pattern withBRAFmutations. Ubiquitinpathway genes tend to be upregulated in cancermediated by diverse mechanisms. By integratingpan-cancer multiomic data, we identify a group oftumor samples that exhibit worse prognosis. Thesesamples are consistently associated with the upre-gulation of cell-cycle and DNA repair pathways, char-acterized by mutatedTP53,MYC/TERTamplifica-tion, andAPC/PTENdeletion. Our analysishighlights the importance of the ubiquitin pathwayin cancer development and lays a foundation fordeveloping relevant therapeutic strategies
The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma
- Author
- Abdel-Rahman Mohamed H.
- Abeshouse Adam
- Adebamowo Clement
- Adebamowo Sally N.
- Agnew Kathy
- Ahn Keunsoo
- Ajani Jaffer A.
- Akbani Rehan
- Akbani Rehan
- Akeredolu Teniola
- Al-Ahmadie Hikmat
- Albert Monique
- Alexopoulou Iakovina
- Ally Adrian
- Alvaro Domenico
- Anderson Matthew L.
- Andry Chris
- Antenucci Anna
- Anur Pavana
- Appelbaum Elizabeth L.
- Aredes Natália D.
- Armenia Joshua
- Arnaout Angel
- Asa Sylvia L.
- Auman J. Todd
- Aymerich Marta
- Aziz Dina
- Bailey Matthew
- Balasundaram Miruna
- Balu Saianand
- Barnett Gene
- Barnholtz-Sloan Jill S.
- Barrett Wendi
- Bartlett John
- Bathe Oliver
- Baudin Eric
- Baylin Stephen
- Becker Karl-Friedrich
- Beer David
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- Sun Qiang
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- Swisher Elizabeth
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- Tam Angela
- Tamakawa Raina
- Tamboli Pheroze
- Tamboli Pheroze
- Tan Donghui
- Tang Yufang
- Tarnuzzer Roy
- Taubert Helge
- Tavobilov Mikhail
- Taylor Barry S.
- Tcaciuc Diana
- Tennstedt Pierre
- Thiessen Nina
- Thomas George
- Thomas George
- Thompson Eric
- Thompson John
- Thompson R. Houston
- Thompson Timothy
- Thorp Richard
- Thorsson Vesteinn
- Tien Nguyen Viet
- Timmers Henri
- Tirapelli Daniela
- Tischler Arthur
- Torbenson Michael
- Troncoso Patricia
- Tsao Anne
- Tse Kane
- Tucker Kelinda
- Têtu Bernard
- Unterberg Andreas
- Urba Walter
- Valdivieso Federico
- Van Bang Nguyen
- Van Den Berg David J.
- van Kessel Kim E.
- Van Meir Erwin G.
- Van Tine Brian
- Vandenberg Scott
- Veluvolu Umadevi
- Vicha Ales
- Vidal Daniel O.
- Vincent Benjamin G.
- Vocke Cathy D.
- Vocke Cathy D.
- Voet Doug
- von Deimling Andreas
- Voronina Olga
- Wach Sven
- Wakely Paul
- Waldmann Jens
- Walker Joan
- Wan Yunhu
- Wang Jing
- Wang Jioajiao
- Wang Linghua
- Wang Min
- Wang Timothy
- Wang Zhining
- Warnick Ronald
- Weinstein John N.
- Weisenberger Daniel J.
- Wentzensen Nicolas
- Westervelt Peter
- Wheeler David A.
- Wheeler David A.
- Wilkerson Matthew D.
- Williams Felicia
- Wilmott James
- Wilson Richard K.
- Wise Lisa
- Wistuba Ignacio
- Wiznerowicz Maciej
- Wolf Gregory
- Wolinsky Yingli
- Wong Christopher K.
- Wong Tina
- Worrell Robert
- Wu Ye
- Wullich Bernd
- Xi Liu
- Yang Hannah
- Yang Ian
- Yang Ju Dong
- Yang Liming
- Yang Lixing
- Yau Christina
- Yena Peggy
- Zach Leigh Anne
- Zaren Howard
- Zelinka Tomas
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Hongxin
- Zhang Hongzheng
- Zhang Jiashan (Julia)
- Zhang Jiexin
- Zhang Lizhi
- Zhang Wei
- Zhao Fengmei
- Zhou Wanding
- Zmuda Erik
- Zuna Rosemary
- Zwarthoff Ellen C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2018
- Field of study
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
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- Collins Peter
- Collinson Morag N.
- Connell Fiona
- Cooper Nichola
- Cooper Nicola
- Cosgrove Catherine
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- 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
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- de Vries Dylan
- De Vries Minka
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- Debelle Geoff D.
- Deegan Patrick
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- 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
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- Ellard Sian
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- Erber Wendy N.
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- Evans Karenza
- Everest Sarah
- Everington Tamara
- Faroogi Sadaf
- Fatemifar Ghazaleh
- Favier Remi
- Fendick Tina
- Firth Helen
- Firth Helen V.
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- 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.
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- 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
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- 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
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- Lawson Daniel
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- Lek Monkol
- Lentaigne Claire
- Li Rui
- Li Yingrui
- Liang Jieqin
- Liesner Ri
- Lim Derek
- Lin Hong
- Linger Rachel
- Liu Ryan
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- Lynch Sally A.
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- Mason Laura E.
- Massimo Mangino
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- McKechanie Andrew G.
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- McTague Amy
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- Veltman Marijke
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- Vijayarangakannan Parthiban
- Visscher Peter M.
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- 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
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- Wellesley Diana
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- Woods Geoffrey
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- 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)