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: 1663G>A; Glu555Lys; rs199473123

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1

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Spatial intratumoral heterogeneity and temporal clonal evolution in esophageal squamous cell carcinoma.

Nature Genetics

Hao, Jia-Jie JJ; Lin, De-Chen DC; Dinh, Huy Q HQ; Mayakonda, Anand A; Jiang, Yan-Yi YY; Chang, Chen C; Jiang, Ye Y; Lu, Chen-Chen CC; Shi, Zhi-Zhou ZZ; Xu, Xin X; Zhang, Yu Y; Cai, Yan Y; Wang, Jin-Wu JW; Zhan, Qi-Min QM; Wei, Wen-Qiang WQ; Berman, Benjamin P BP; Wang, Ming-Rong MR; Koeffler, H Phillip HP

Publication Date: 2016-12

Variant appearance in text: SCN5A: E555K

PubMed Link: 27749841

Variant Present in the following documents:

• NIHMS814330-supplement-4.xlsx, sheet 1

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: SCN5A: E555K

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s2.xlsx, sheet 4

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Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.

Circulation. Cardiovascular Genetics

Hoshi, Malcolm M; Du, Xi X XX; Shinlapawittayatorn, Krekwit K; Liu, Haiyan H; Chai, Sam S; Wan, Xiaoping X; Ficker, Eckhard E; Deschênes, Isabelle I

Publication Date: 2014-04

Variant appearance in text: SCN5A: E555K

PubMed Link: 24573164

Variant Present in the following documents:

• Main text

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