Publications:

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Circumstance-dependent functional variants in the major long QT syndrome genes in patients with recurrent polymorphic ventricular arrhythmias: A case series.

Heartrhythm Case Reports

van Bakel, Bram M A BMA; Kerstens, Thijs P TP; Arts, Ieva I; Evertz, Reinder R; Beukema, Rypko R; Boulaksil, Mohamed M

Publication Date: 2023-05

Variant appearance in text: KCNQ1: R533W

PubMed Link: 37324972

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: 1597C>T; Arg533Trp

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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Polyunsaturated fatty acids produce a range of activators for heterogeneous IKs channel dysfunction.

The Journal Of General Physiology

Bohannon, Briana M BM; Wu, Xiaoan X; Wu, Xiongyu X; Perez, Marta E ME; Liin, Sara I SI; Larsson, H Peter HP

Publication Date: 2020-02-03

Variant appearance in text: KCNQ1: R533W

PubMed Link: 31865382

Variant Present in the following documents:

• Main text
• JGP_201912396.pdf

View BVdb publication page

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The Crossroad of Ion Channels and Calmodulin in Disease.

International Journal Of Molecular Sciences

Urrutia, Janire J; Aguado, Alejandra A; Muguruza-Montero, Arantza A; Núñez, Eider E; Malo, Covadonga C; Casis, Oscar O; Villarroel, Alvaro A

Publication Date: 2019-01-18

Variant appearance in text: LQT1: R533W

PubMed Link: 30669290

Variant Present in the following documents:

• Main text

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: R533W

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.

Circulation. Cardiovascular Genetics

Li, Bian B; Mendenhall, Jeffrey L JL; Kroncke, Brett M BM; Taylor, Keenan C KC; Huang, Hui H; Smith, Derek K DK; Vanoye, Carlos G CG; Blume, Jeffrey D JD; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J

Publication Date: 2017-10

Variant appearance in text: KCNQ1: R533W

PubMed Link: 29021305

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: 1597C>T; Arg533Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Molecular pathogenesis of long QT syndrome type 1.

Journal Of Arrhythmia

Wu, Jie J; Ding, Wei-Guang WG; Horie, Minoru M

Publication Date: 2016-10

Variant appearance in text: KCNQ1: R533W

PubMed Link: 27761162

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

Indian Pacing And Electrophysiology Journal

Vyas, Bijal B; Puri, Ratna D RD; Namboodiri, Narayanan N; Saxena, Renu R; Nair, Mohan M; Balakrishnan, Prahlad P; Jayakrishnan, M P MP; Udyavar, Ameya A; Kishore, Ravi R; Verma, Ishwar C IC

Publication Date: 2016

Variant appearance in text: LQT1: R533W

PubMed Link: 27485560

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT1: R533W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCNQ1: R533W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

Frontiers In Cellular Neuroscience

Mousavi Nik, Atefeh A; Gharaie, Somayeh S; Jeong Kim, Hyo H

Publication Date: 2015

Variant appearance in text: Kv7.1: R533W

PubMed Link: 25705178

Variant Present in the following documents:

• Main text
• fncel-09-00032.pdf

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: KCNQ1: R533W

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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Kv7.1 (KCNQ1) properties and channelopathies.

The Journal Of Physiology

Peroz, David D; Rodriguez, Nicolas N; Choveau, Frank F; Baró, Isabelle I; Mérot, Jean J; Loussouarn, Gildas G

Publication Date: 2008-04-01

Variant appearance in text: KCNQ1: R533W

PubMed Link: 18174212

Variant Present in the following documents:

• Main text

View BVdb publication page

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