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: 4319C>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Frontiers In Neurology

Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T

Publication Date: 2021

Variant appearance in text: SCN1A: 4319C>T

PubMed Link: 35002916

Variant Present in the following documents:

• Main text

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Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.

Frontiers In Neurology

Marco Hernández, Ana Victoria AV; Tomás Vila, Miguel M; Caro Llopis, Alfonso A; Monfort, Sandra S; Martinez, Francisco F

Publication Date: 2021

Variant appearance in text: SCN1A: 4319C>T

PubMed Link: 34917021

Variant Present in the following documents:

• Main text
• fneur-12-784892.pdf

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Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

Neuron

D'Gama, Alissa M AM; Pochareddy, Sirisha S; Li, Mingfeng M; Jamuar, Saumya S SS; Reiff, Rachel E RE; Lam, Anh-Thu N AN; Sestan, Nenad N; Walsh, Christopher A CA

Publication Date: 2015-12-02

Variant appearance in text: SCN1A: 4319C>T; A1440V

PubMed Link: 26637798

Variant Present in the following documents:

• Main text

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