Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NF1: 3763C>T; Gln1255Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: NF1: 3763C>T; Q1255*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: NF1: Q1255*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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Is There an Independent Role of TERT and NF1 in High Grade Gliomas?

Translational Oncology

Razis, Evangelia E; Kotoula, Vassiliki V; Koliou, Georgia-Angeliki GA; Papadopoulou, Kyriaki K; Vrettou, Eleni E; Giannoulatou, Eleni E; Tikas, Ioannis I; Labropoulos, Stefanos V SV; Rigakos, Georgios G; Papaemmanoyil, Styliani S; Romanidou, Ourania O; Bourkoula, Eugenia E; Nomikos, Panagiotis P; Iliadis, Georgios G; Nasioulas, George G; Selviaridis, Panagiotis P; Polyzoidis, Konstantinos K; Fountzilas, George G

Publication Date: 2020-02

Variant appearance in text: NF1: Gln1255Ter

PubMed Link: 31891871

Variant Present in the following documents:

• Main text
• main.pdf

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ALK Inhibitor Response in Melanomas Expressing EML4-ALK Fusions and Alternate ALK Isoforms.

Molecular Cancer Therapeutics

Couts, Kasey L KL; Bemis, Judson J; Turner, Jacqueline A JA; Bagby, Stacey M SM; Murphy, Danielle D; Christiansen, Jason J; Hintzsche, Jennifer D JD; Le, Anh A; Pitts, Todd M TM; Wells, Keith K; Applegate, Allison A; Amato, Carol C; Multani, Pratik P; Chow-Maneval, Edna E; Tentler, John J JJ; Shellman, Yiqun G YG; Rioth, Matthew J MJ; Tan, Aik-Choon AC; Gonzalez, Rene R; Medina, Theresa T; Doebele, Robert C RC; Robinson, William A WA

Publication Date: 2018-01

Variant appearance in text: NF1: Q1255X

PubMed Link: 29054983

Variant Present in the following documents:

• Main text

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