Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 625T>C; Ser209Pro

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Cells

Iop, Laura L; Iliceto, Sabino S; Civieri, Giovanni G; Tona, Francesco F

Publication Date: 2021-11-15

Variant appearance in text: KCNQ1: S209P

PubMed Link: 34831398

Variant Present in the following documents:

• Main text
• cells-10-03175.pdf

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Disease-linked supertrafficking of a potassium channel.

The Journal Of Biological Chemistry

Huang, Hui H; Chamness, Laura M LM; Vanoye, Carlos G CG; Kuenze, Georg G; Meiler, Jens J; George, Alfred L AL; Schlebach, Jonathan Patrick JP; Sanders, Charles R CR

Publication Date: 2021

Variant appearance in text: KCNQ1: S209P

PubMed Link: 33600800

Variant Present in the following documents:

• mmc1.pdf

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Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg

Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS

Publication Date: 2021-07

Variant appearance in text: KCNQ1: 625T>C; Ser209Pro

PubMed Link: 33279945

Variant Present in the following documents:

• 41431_2020_784_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Circulation. Genomic And Precision Medicine

Streeten, Elizabeth A EA; See, Vincent Y VY; Jeng, Linda B J LBJ; Maloney, Kristin A KA; Lynch, Megan M; Glazer, Andrew M AM; Yang, Tao T; Roden, Dan D; Pollin, Toni I TI; Daue, Melanie M; Ryan, Kathleen A KA; Van Hout, Cristopher C; Gosalia, Nehal N; Gonzaga-Jauregui, Claudia C; Economides, Aris A; Perry, James A JA; O'Connell, Jeffrey J; Beitelshees, Amber A; Palmer, Kathleen K; Mitchell, Braxton D BD; Shuldiner, Alan R AR; ,

Publication Date: 2020-12

Variant appearance in text: rs199472705

PubMed Link: 33141630

Variant Present in the following documents:

• hcg-13-e003133-s002.xls, sheet 2

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KCNQ1: 625T>C; Ser209Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Plos Computational Biology

Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE

Publication Date: 2020-08

Variant appearance in text: KCNQ1: S209P

PubMed Link: 32797034

Variant Present in the following documents:

• Main text
• pcbi.1008109.pdf

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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: KCNQ1: 625T>C; S209P

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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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KCNQ1: S209P

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

Circulation. Genomic And Precision Medicine

Vanoye, Carlos G CG; Desai, Reshma R RR; Fabre, Katarina L KL; Gallagher, Shannon L SL; Potet, Franck F; DeKeyser, Jean-Marc JM; Macaya, Daniela D; Meiler, Jens J; Sanders, Charles R CR; George, Alfred L AL

Publication Date: 2018-11

Variant appearance in text: KCNQ1: S209P

PubMed Link: 30571187

Variant Present in the following documents:

• Main text

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: KCNQ1: 625T>C; Ser209Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Cardiac Electrophysiology Clinics

Chen, Lei L; Sampson, Kevin J KJ; Kass, Robert S RS

Publication Date: 2016-06

Variant appearance in text: KCNQ1: S209P

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Discoveries in Atrial Fibrillation and Implications for Clinical Practice.

Arrhythmia & Electrophysiology Review

Mahida, Saagar S

Publication Date: 2014-08

Variant appearance in text: KCNQ1: S209P

PubMed Link: 26835069

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.

Journal Of Geriatric Cardiology : Jgc

Wu, Zhi-Juan ZJ; Huang, Yun Y; Fu, Yi-Cheng YC; Zhao, Xiao-Jing XJ; Zhu, Chao C; Zhang, Yu Y; Xu, Bin B; Zhu, Qing-Lei QL; Li, Yang Y

Publication Date: 2015-07

Variant appearance in text: KCNQ1: S209P

PubMed Link: 26346102

Variant Present in the following documents:

• Main text
• jgc-12-04-394.pdf

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Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg

Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH

Publication Date: 2014-03

Variant appearance in text: KCNQ1: Ser209Pro

PubMed Link: 23838598

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.

Thescientificworldjournal

Chu, Hui-min HM; Feng, Ming-jun MJ; Li, Yi-gang YG; Zhang, Yi-xin YX; Ma, Ji-fang JF; He, Bin B; Yu, Yi-bo YB; Liu, Jing J; Chen, Xiao-min XM

Publication Date: 2013

Variant appearance in text: KCNQ1: S209P

PubMed Link: 23710137

Variant Present in the following documents:

• Main text
• TSWJ2013-373454.pdf

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Monogenic atrial fibrillation as pathophysiological paradigms.

Cardiovascular Research

Mahida, Saagar S; Lubitz, Steven A SA; Rienstra, Michiel M; Milan, David J DJ; Ellinor, Patrick T PT

Publication Date: 2011-03-01

Variant appearance in text: KCNQ1: S209P

PubMed Link: 21123219

Variant Present in the following documents:

• Main text

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Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

The Journal Of General Physiology

Eldstrom, Jodene J; Xu, Hongjian H; Werry, Daniel D; Kang, Congbao C; Loewen, Matthew E ME; Degenhardt, Amanda A; Sanatani, Shubhayan S; Tibbits, Glen F GF; Sanders, Charles C; Fedida, David D

Publication Date: 2010-05

Variant appearance in text: KCNQ1: S209P

PubMed Link: 20421371

Variant Present in the following documents:

• Main text
• JGP_200910351.pdf

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Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation.

Heart Rhythm

Das, Saumya S; Makino, Seiko S; Melman, Yonathan F YF; Shea, Marisa A MA; Goyal, Sanjeev B SB; Rosenzweig, Anthony A; Macrae, Calum A CA; Ellinor, Patrick T PT

Publication Date: 2009-08

Variant appearance in text: KCNQ1: S209P

PubMed Link: 19632626

Variant Present in the following documents:

• Main text

View BVdb publication page

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