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: DMD: 9974+175T>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics

Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S

Publication Date: 2022

Variant appearance in text: DMD: 9974+175T>A

PubMed Link: 35754842

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lee, Hane H; Huang, Alden Y AY; Wang, Lee-Kai LK; Yoon, Amanda J AJ; Renteria, Genecee G; Eskin, Ascia A; Signer, Rebecca H RH; Dorrani, Naghmeh N; Nieves-Rodriguez, Shirley S; Wan, Jijun J; Douine, Emilie D ED; Woods, Jeremy D JD; Dell'Angelica, Esteban C EC; Fogel, Brent L BL; Martin, Martin G MG; Butte, Manish J MJ; Parker, Neil H NH; Wang, Richard T RT; Shieh, Perry B PB; Wong, Derek A DA; Gallant, Natalie N; Singh, Kathryn E KE; Tavyev Asher, Y Jane YJ; Sinsheimer, Janet S JS; Krakow, Deborah D; Loo, Sandra K SK; Allard, Patrick P; Papp, Jeanette C JC; , ; Palmer, Christina G S CGS; Martinez-Agosto, Julian A JA; Nelson, Stanley F SF

Publication Date: 2020-03

Variant appearance in text: DMD: 9974+175T>A

PubMed Link: 31607746

Variant Present in the following documents:

• Main text

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