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: 2709G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

Jco Precision Oncology

MacFarland, Suzanne P SP; Zelley, Kristin K; Surrey, Lea F LF; Gallo, Daniel D; Luo, Minjie M; Raman, Pichai P; Wertheim, Gerald G; Hunger, Stephen P SP; Li, Marilyn M MM; Brodeur, Garrett M GM

Publication Date: 2019

Variant appearance in text: NF1: 2709G>A; Val903Val

PubMed Link: 32783018

Variant Present in the following documents:

• Main text

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Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

Italian Journal Of Pediatrics

Corsello, Giovanni G; Antona, Vincenzo V; Serra, Gregorio G; Zara, Federico F; Giambrone, Clara C; Lagalla, Luca L; Piccione, Maria M; Piro, Ettore E

Publication Date: 2018-04-04

Variant appearance in text: NF1: 2709G>A

PubMed Link: 29618358

Variant Present in the following documents:

• Main text
• 13052_2018_Article_483.pdf

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Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies

Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE

Publication Date: 2018-04

Variant appearance in text: NF1: 2709G>A; rs771820789

PubMed Link: 29449315

Variant Present in the following documents:

• Main text
• MCS002352Sua.pdf
• supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1

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