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: 15200del; Ile5067fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Human Genetics

Yan, Denise D; Tekin, Demet D; Bademci, Guney G; Foster, Joseph J; Cengiz, F Basak FB; Kannan-Sundhari, Abhiraami A; Guo, Shengru S; Mittal, Rahul R; Zou, Bing B; Grati, Mhamed M; Kabahuma, Rosemary I RI; Kameswaran, Mohan M; Lasisi, Taye J TJ; Adedeji, Waheed A WA; Lasisi, Akeem O AO; Menendez, Ibis I; Herrera, Marianna M; Carranza, Claudia C; Maroofian, Reza R; Crosby, Andrew H AH; Bensaid, Mariem M; Masmoudi, Saber S; Behnam, Mahdiyeh M; Mojarrad, Majid M; Feng, Yong Y; Duman, Duygu D; Mawla, Alex M AM; Nord, Alex S AS; Blanton, Susan H SH; Liu, Xue Z XZ; Tekin, Mustafa M

Publication Date: 2016-08

Variant appearance in text: USH2A: 15200delT; I5067Tfs*23

PubMed Link: 27344577

Variant Present in the following documents:

• Main text

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