Publications:

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Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death.

Journal Of The American Heart Association

Chahine, Mohamed M; Fontaine, John M JM; Boutjdir, Mohamed M

Publication Date: 2022-03-15

Variant appearance in text: KCNH2: Q1068R

PubMed Link: 35243873

Variant Present in the following documents:

• Main text
• JAH3-11-e023446.pdf

View BVdb publication page

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H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.

International Journal Of Molecular Sciences

Farrugia, Audrey A; Rollet, Kevin K; Sinniger, Jérome J; Brun, Susana S; Spenle, Caroline C; Ludes, Bertrand B; Taleb, Omar O; Mensah-Nyagan, Ayikoe Guy AG

Publication Date: 2021-08-26

Variant appearance in text: Kv11.1: Q1068R

PubMed Link: 34502138

Variant Present in the following documents:

• Main text
• ijms-22-09235.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: KCNH2: 3203A>G; Q1068R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Molecular Genetics & Genomic Medicine

Hauser, Natalie S NS; Solomon, Benjamin D BD; Vilboux, Thierry T; Khromykh, Alina A; Baveja, Rajiv R; Bodian, Dale L DL

Publication Date: 2018-03

Variant appearance in text: KCNH2: Q1068R

PubMed Link: 29368431

Variant Present in the following documents:

• MGG3-6-200-s002.xlsx, sheet 2

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs151031345

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNH2: 3203A>G; Gln1068Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Tbx20 controls the expression of the KCNH2 gene and of hERG channels.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Caballero, Ricardo R; Utrilla, Raquel G RG; Amorós, Irene I; Matamoros, Marcos M; Pérez-Hernández, Marta M; Tinaquero, David D; Alfayate, Silvia S; Nieto-Marín, Paloma P; Guerrero-Serna, Guadalupe G; Liu, Qing-Hua QH; Ramos-Mondragón, Roberto R; Ponce-Balbuena, Daniela D; Herron, Todd T; Campbell, Katherine F KF; Filgueiras-Rama, David D; Peinado, Rafael R; López-Sendón, José L JL; Jalife, José J; Delpón, Eva E; Tamargo, Juan J

Publication Date: 2017-01-17

Variant appearance in text: KCNH2: 3203A>G; rs151031345

PubMed Link: 28049825

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: KCNH2: 3203A>G

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

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Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.

Acta Pharmacologica Sinica

Zhang, Kai-ping KP; Yang, Bao-feng BF; Li, Bao-xin BX

Publication Date: 2014-12

Variant appearance in text: KCNH2: Q1068R

PubMed Link: 25418379

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology

Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M

Publication Date: 2012-08-13

Variant appearance in text: KCNH2: Q1068R

PubMed Link: 22947121

Variant Present in the following documents:

• Main text
• 2050-6511-13-6.pdf

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KCNH2 pharmacogenomics summary.

Pharmacogenetics And Genomics

Oshiro, Connie C; Thorn, Caroline F CF; Roden, Dan M DM; Klein, Teri E TE; Altman, Russ B RB

Publication Date: 2010-12

Variant appearance in text: KCNH2: Q1068R

PubMed Link: 20150828

Variant Present in the following documents:

• Main text

View BVdb publication page

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