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: rs199473637

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1

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Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.

Journal Of Clinical Medicine

Oliva, Antonio A; Grassi, Simone S; Pinchi, Vilma V; Cazzato, Francesca F; Coll, Mónica M; Alcalde, Mireia M; Vallverdú-Prats, Marta M; Perez-Serra, Alexandra A; Martínez-Barrios, Estefanía E; Cesar, Sergi S; Iglesias, Anna A; Cruzalegui, José J; Hernández, Clara C; Fiol, Victoria V; Arbelo, Elena E; Díez-Escuté, Nuria N; Arena, Vincenzo V; Brugada, Josep J; Sarquella-Brugada, Georgia G; Brugada, Ramon R; Campuzano, Oscar O

Publication Date: 2022-07-28

Variant appearance in text: rs199473637

PubMed Link: 35956023

Variant Present in the following documents:

• jcm-11-04406.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: rs199473637

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page