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: KCNQ2: 471G>A; Trp157Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.

Scientific Reports

Zhang, Jiaren J; Kim, Eung Chang EC; Chen, Congcong C; Procko, Erik E; Pant, Shashank S; Lam, Kin K; Patel, Jaimin J; Choi, Rebecca R; Hong, Mary M; Joshi, Dhruv D; Bolton, Eric E; Tajkhorshid, Emad E; Chung, Hee Jung HJ

Publication Date: 2020-03-16

Variant appearance in text: Kv7.2: 471G>A

PubMed Link: 32179837

Variant Present in the following documents:

• 41598_2020_61697_MOESM2_ESM.pdf

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: KCNQ2: W157*

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 6

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: KCNQ2: W157X

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Orphanet Journal Of Rare Diseases

Milh, Mathieu M; Boutry-Kryza, Nadia N; Sutera-Sardo, Julie J; Mignot, Cyril C; Auvin, Stéphane S; Lacoste, Caroline C; Villeneuve, Nathalie N; Roubertie, Agathe A; Heron, Bénédicte B; Carneiro, Maryline M; Kaminska, Anna A; Altuzarra, Cécilia C; Blanchard, Gaëlle G; Ville, Dorothée D; Barthez, Marie Anne MA; Heron, Delphine D; Gras, Domitille D; Afenjar, Alexandra A; Dorison, Nathalie N; Doummar, Dianne D; Billette de Villemeur, Thierry T; An, Isabelle I; Jacquette, Aurélia A; Charles, Perrine P; Perrier, Julie J; Isidor, Bertrand B; Vercueil, Laurent L; Chabrol, Brigitte B; Badens, Catherine C; Lesca, Gaétan G; Villard, Laurent L

Publication Date: 2013-05-22

Variant appearance in text: KCNQ2: W157X

PubMed Link: 23692823

Variant Present in the following documents:

• Main text
• 1750-1172-8-80.pdf

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