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: 2187dup; Asn730Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

Translational Vision Science & Technology

Flores Pimentel, Mariana M; Heath, Anna A; Wan, Michael J MJ; Hussein, Rowaida R; Leahy, Kate E KE; MacDonald, Heather H; Tavares, Erika E; VandenHoven, Cynthia C; MacNeill, Katelyn K; Kannu, Peter P; Parkin, Patricia C PC; Heon, Elise E; Reginald, Arun A; Vincent, Ajoy A

Publication Date: 2022-02-01

Variant appearance in text: NF1: 2187dup; Asn730*

PubMed Link: 35119474

Variant Present in the following documents:

• Main text
• tvst-11-2-10.pdf

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Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

Translational Vision Science & Technology

Flores Pimentel, Mariana M; Heath, Anna A; Wan, Michael J MJ; Hussein, Rowaida R; Leahy, Kate E KE; MacDonald, Heather H; Tavares, Erika E; VandenHoven, Cynthia C; MacNeill, Katelyn K; Kannu, Peter P; Parkin, Patricia C PC; Heon, Elise E; Reginald, Arun A; Vincent, Ajoy A

Publication Date: 2022-02-01

Variant appearance in text: NF1: 2187dup; Asn730*

PubMed Link: 35119474

Variant Present in the following documents:

• Main text
• tvst-11-2-10.pdf

View BVdb publication page