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: USH2A: 11047+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Investigating Biomarkers for USH2A Retinopathy Using Multimodal Retinal Imaging.

International Journal Of Molecular Sciences

Gill, Jasdeep S JS; Theofylaktopoulos, Vasileios V; Mitsios, Andreas A; Houston, Sarah S; Hagag, Ahmed M AM; Dubis, Adam M AM; Moosajee, Mariya M

Publication Date: 2022-04-11

Variant appearance in text: USH2: 11047+1G>A

PubMed Link: 35457016

Variant Present in the following documents:

• ijms-23-04198.pdf

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A novel statistical method for interpreting the pathogenicity of rare variants.

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

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: USH2A: 11047+1G>A

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

Genomics

Maranhao, B B; Biswas, P P; Duncan, J L JL; Branham, K E KE; Silva, G A GA; Naeem, M A MA; Khan, S N SN; Riazuddin, S S; Hejtmancik, J F JF; Heckenlively, J R JR; Riazuddin, S A SA; Lee, P L PL; Ayyagari, R R

Publication Date: 2014

Variant appearance in text: USH2A: 11047+1G>A

PubMed Link: 24603341

Variant Present in the following documents:

• Main text

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Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Journal Of Medical Genetics

Le Quesne Stabej, Polona P; Saihan, Zubin Z; Rangesh, Nell N; Steele-Stallard, Heather B HB; Ambrose, John J; Coffey, Alison A; Emmerson, Jenny J; Haralambous, Elene E; Hughes, Yasmin Y; Steel, Karen P KP; Luxon, Linda M LM; Webster, Andrew R AR; Bitner-Glindzicz, Maria M

Publication Date: 2012-01

Variant appearance in text: USH2A: 11047+1G>A

PubMed Link: 22135276

Variant Present in the following documents:

• Main text
• jmedgenet-2011-100468.pdf
• jmedgenet-2011-100468-s5.pdf

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