Publications:

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Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Cold Spring Harbor Molecular Case Studies

Miller, Cecelia R CR; Lee, Kristy K; Pfau, Ruthann B RB; Reshmi, Shalini C SC; Corsmeier, Donald J DJ; Hashimoto, Sayaka S; Dave-Wala, Ashita A; Jayaraman, Vijayakumar V; Koboldt, Daniel D; Matthews, Theodora T; Mouhlas, Danielle D; Stein, Maggie M; McKinney, Aimee A; Grossman, Tom T; Kelly, Benjamin J BJ; White, Peter P; Magrini, Vincent V; Wilson, Richard K RK; Mardis, Elaine R ER; Cottrell, Catherine E CE

Publication Date: 2020-06

Variant appearance in text: SCN1A: 4633A>G; Ile1545Val

PubMed Link: 32371413

Variant Present in the following documents:

• Main text
• MCS005231Mil.pdf

View BVdb publication page

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Data on mutations and Clinical features in SCN1A or SCN2A gene.

Data In Brief

Kong, Yanting Y; Yan, Kai K; Hu, Liyuan L; Wang, Mingbang M; Dong, Xinran X; Lu, Yulan Y; Wu, Bingbing B; Wang, Huijun H; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-02

Variant appearance in text: SCN1A: I1545V

PubMed Link: 30619928

Variant Present in the following documents:

• Main text
• main.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: SCN1A: 4633A>G; Ile1545Val

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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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: I1545V

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SMEI: I1545V; rs121917975

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN1A: I1545V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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