Publications:

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications

Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA

Publication Date: 2022-08-30

Variant appearance in text: SCN5A: 3110G>T; Gly1037Val; rs201831535

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 2

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Ethnic differences in genetic polymorphism associated with irritable bowel syndrome.

World Journal Of Gastroenterology

Xiao, Qi-Yun QY; Fang, Xiu-Cai XC; Li, Xiao-Qing XQ; Fei, Gui-Jun GJ

Publication Date: 2020-05-07

Variant appearance in text: SCN5A: G1037V

PubMed Link: 32536774

Variant Present in the following documents:

• Main text
• WJG-26-2049.pdf

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Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased NaV1.5 current and mechanosensitivity.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Strege, Peter R PR; Mazzone, Amelia A; Bernard, Cheryl E CE; Neshatian, Leila L; Gibbons, Simon J SJ; Saito, Yuri A YA; Tester, David J DJ; Calvert, Melissa L ML; Mayer, Emeran A EA; Chang, Lin L; Ackerman, Michael J MJ; Beyder, Arthur A; Farrugia, Gianrico G

Publication Date: 2018-04-01

Variant appearance in text: SCN5A: G1037V

PubMed Link: 29167113

Variant Present in the following documents:

• Main text

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: SCN5A: G1037V; rs201831535

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

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