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: SCN1A: 652T>C; Phe218Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: SCN1A: 652T>C; Phe218Leu

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.1: F218L

PubMed Link: 28150151

Variant Present in the following documents:

• 13238_2017_Article_372.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: SCN1A: F218L

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.

Brain : A Journal Of Neurology

Catarino, Claudia B CB; Liu, Joan Y W JY; Liagkouras, Ioannis I; Gibbons, Vaneesha S VS; Labrum, Robyn W RW; Ellis, Rachael R; Woodward, Cathy C; Davis, Mary B MB; Smith, Shelagh J SJ; Cross, J Helen JH; Appleton, Richard E RE; Yendle, Simone C SC; McMahon, Jacinta M JM; Bellows, Susannah T ST; Jacques, Thomas S TS; Zuberi, Sameer M SM; Koepp, Matthias J MJ; Martinian, Lillian L; Scheffer, Ingrid E IE; Thom, Maria M; Sisodiya, Sanjay M SM

Publication Date: 2011-10

Variant appearance in text: SCN1A: 652T>C

PubMed Link: 21719429

Variant Present in the following documents:

• Main text
• awr129.pdf

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