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: 3032C>T; Pro1011Leu; rs369249772

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

The role of sodium channels in sudden unexpected death in pediatrics.

Molecular Genetics & Genomic Medicine

Rochtus, Anne M AM; Goldstein, Richard D RD; Holm, Ingrid A IA; Brownstein, Catherine A CA; Pérez-Palma, Eduardo E; Haynes, Robin R; Lal, Dennis D; Poduri, Annapurna H AH

Publication Date: 2020-08

Variant appearance in text: SCN5A: 3032C>T; P1011L

PubMed Link: 32449611

Variant Present in the following documents:

• MGG3-8-e1309-s002.xlsx, sheet 1

View BVdb publication page

---

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: SCN5A: 3032C>T; Pro1011Leu; rs369249772

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science

Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH

Publication Date: 2018-08-06

Variant appearance in text: SCN5A: P1011L

PubMed Link: 30079003

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)

Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z

Publication Date: 2017-12

Variant appearance in text: SCN5A: P1011L

PubMed Link: 28316956

Variant Present in the following documents:

• Main text
• 40709_2017_Article_63.pdf

View BVdb publication page

---

Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics

Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y

Publication Date: 2016-04

Variant appearance in text: SCN5A: P1011L

PubMed Link: 27093186

Variant Present in the following documents:

• pgen.1005895.s019.xlsx, sheet 1

View BVdb publication page

---