Publications:

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Human Sinoatrial Node Pacemaker Activity: Role of the Slow Component of the Delayed Rectifier K+ Current, IKs.

International Journal Of Molecular Sciences

Verkerk, Arie O AO; Wilders, Ronald R

Publication Date: 2023-04-14

Variant appearance in text: KCNQ1: V241F

PubMed Link: 37108427

Variant Present in the following documents:

• Main text
• ijms-24-07264.pdf

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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: 721G>T; Val241Phe

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: rs199956744

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1

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Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.

Frontiers In Physiology

Belletti, Rebecca R; Romero, Lucia L; Martinez-Mateu, Laura L; Cherry, Elizabeth M EM; Fenton, Flavio H FH; Saiz, Javier J

Publication Date: 2021

Variant appearance in text: KCNQ1: V241F

PubMed Link: 34135774

Variant Present in the following documents:

• fphys-12-681943.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: V241F

PubMed Link: 33600800

Variant Present in the following documents:

• mmc1.pdf

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Prediction of Cardiac Mechanical Performance From Electrical Features During Ventricular Tachyarrhythmia Simulation Using Machine Learning Algorithms.

Frontiers In Physiology

Jeong, Da Un DU; Lim, Ki Moo KM

Publication Date: 2020

Variant appearance in text: KCNQ1: V241F

PubMed Link: 33329041

Variant Present in the following documents:

• Main text
• Data_Sheet_1.pdf
• fphys-11-591681.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: 721G>T; Val241Phe

PubMed Link: 33279945

Variant Present in the following documents:

• 41431_2020_784_MOESM3_ESM.xlsx, sheet 1

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Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model.

Journal Of Korean Medical Science

Heikhmakhtiar, Aulia Khamas AK; Abrha, Abebe Tekle AT; Jeong, Da Un DU; Lim, Ki Moo KM

Publication Date: 2020-07-27

Variant appearance in text: KCNQ1: V241F

PubMed Link: 32715669

Variant Present in the following documents:

• jkms-35-e238.pdf

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Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity.

Computational And Mathematical Methods In Medicine

Jeong, Da Un DU; Lee, Jiyeong J; Lim, Ki Moo KM

Publication Date: 2020

Variant appearance in text: KCNQ1: V241F

PubMed Link: 32328155

Variant Present in the following documents:

• Main text

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Relationship Between Electrical Instability and Pumping Performance During Ventricular Tachyarrhythmia: Computational Study.

Frontiers In Physiology

Jeong, Da Un DU; Lim, Ki Moo KM

Publication Date: 2020

Variant appearance in text: KCNQ1: V241F

PubMed Link: 32265731

Variant Present in the following documents:

• Main text
• fphys-11-00220.pdf

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Investigating the Complex Arrhythmic Phenotype Caused by the Gain-of-Function Mutation KCNQ1-G229D.

Frontiers In Physiology

Zhou, Xin X; Bueno-Orovio, Alfonso A; Schilling, Richard J RJ; Kirkby, Claire C; Denning, Chris C; Rajamohan, Divya D; Burrage, Kevin K; Tinker, Andrew A; Rodriguez, Blanca B; Harmer, Stephen C SC

Publication Date: 2019

Variant appearance in text: KCNQ1: V241F

PubMed Link: 30967788

Variant Present in the following documents:

• Main text
• fphys-10-00259.pdf

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The effect of myocardial action potential duration on cardiac pumping efficacy: a computational study.

Biomedical Engineering Online

Jeong, Da Un DU; Lim, Ki Moo KM

Publication Date: 2018-06-15

Variant appearance in text: KCNQ1: V241F

PubMed Link: 29907152

Variant Present in the following documents:

• 12938_2018_Article_508.pdf

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Effect of KCNQ1 G229D mutation on cardiac pumping efficacy and reentrant dynamics in ventricles: Computational study.

International Journal For Numerical Methods In Biomedical Engineering

Yuniarti, Ana Rahma AR; Setianto, Febrian F; Marcellinus, Aroli A; Hwang, Han Jeong HJ; Choi, Seong Wook SW; Trayanova, Natalia N; Lim, Ki Moo KM

Publication Date: 2018-06

Variant appearance in text: KCNQ1: V241F

PubMed Link: 29488358

Variant Present in the following documents:

• Main text

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Computational analysis of the human sinus node action potential: model development and effects of mutations.

The Journal Of Physiology

Fabbri, Alan A; Fantini, Matteo M; Wilders, Ronald R; Severi, Stefano S

Publication Date: 2017-04-01

Variant appearance in text: KCNQ1: V241F

PubMed Link: 28185290

Variant Present in the following documents:

• Main text

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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: V241F

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

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