Publications:

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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: 1085A>G; Tyr362Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KCNQ2: 1085A>G; Tyr362Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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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: 1085A>G

PubMed Link: 32179837

Variant Present in the following documents:

• 41598_2020_61697_MOESM2_ESM.pdf

View BVdb publication page

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The Crossroad of Ion Channels and Calmodulin in Disease.

International Journal Of Molecular Sciences

Urrutia, Janire J; Aguado, Alejandra A; Muguruza-Montero, Arantza A; Núñez, Eider E; Malo, Covadonga C; Casis, Oscar O; Villarroel, Alvaro A

Publication Date: 2019-01-18

Variant appearance in text: KCNQ2: Y362C

PubMed Link: 30669290

Variant Present in the following documents:

• Main text
• ijms-20-00400.pdf

View BVdb publication page

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: KCNQ2: 1085A>G; Tyr362Cys

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: KCNQ2: 1085A>G; Y362C

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 1

View BVdb publication page

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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: Y362C

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.

Applied & Translational Genomics

Dimassi, Sarra S; Simonet, Thomas T; Labalme, Audrey A; Boutry-Kryza, Nadia N; Campan-Fournier, Amandine A; Lamy, Raphaelle R; Bardel, Claire C; Elsensohn, Mad-Hélénie MH; Roucher-Boulez, Florence F; Chatron, Nicolas N; Putoux, Audrey A; de Bellescize, Julitta J; Ville, Dorothée D; Schaeffer, Laurent L; Roy, Pascal P; Mougou-Zerelli, Soumaya S; Saad, Ali A; Calender, Alain A; Sanlaville, Damien D; Lesca, Gaetan G

Publication Date: 2015-12

Variant appearance in text: KCNQ2: Tyr362Cys

PubMed Link: 27054081

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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