Publications:

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Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

Hancox, J C JC; Du, C Y CY; Butler, A A; Zhang, Y Y; Dempsey, C E CE; Harmer, S C SC; Zhang, H H

Publication Date: 2023-06-19

Variant appearance in text: KCNQ1: R259H

PubMed Link: 37122211

Variant Present in the following documents:

• Main text
• rstb.2022.0165.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: 776G>A; Arg259His

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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Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences

, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF

Publication Date: 2023-02-24

Variant appearance in text: KCNQ1: 776G>A; Arg259His

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

View BVdb publication page

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: KCNQ1: R259H; rs199472720

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: KCNQ1: 776G>A; Arg259His

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease.

Frontiers In Cardiovascular Medicine

Wang, Mengru M; Tu, Xin X

Publication Date: 2022

Variant appearance in text: KCNQ1: R259H

PubMed Link: 35783865

Variant Present in the following documents:

• fcvm-09-891399.pdf

View BVdb publication page

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Predicting the functional impact of KCNQ1 variants with artificial neural networks.

Plos Computational Biology

Phul, Saksham S; Kuenze, Georg G; Vanoye, Carlos G CG; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J

Publication Date: 2022-04

Variant appearance in text: KCNQ1: R259H

PubMed Link: 35442947

Variant Present in the following documents:

• Main text
• pcbi.1010038.pdf

View BVdb publication page

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Basic Research Approaches to Evaluate Cardiac Arrhythmia in Heart Failure and Beyond.

Frontiers In Physiology

Cumberland, Max J MJ; Riebel, Leto L LL; Roy, Ashwin A; O'Shea, Christopher C; Holmes, Andrew P AP; Denning, Chris C; Kirchhof, Paulus P; Rodriguez, Blanca B; Gehmlich, Katja K

Publication Date: 2022

Variant appearance in text: KCNQ1: R259H

PubMed Link: 35197863

Variant Present in the following documents:

• fphys-13-806366.pdf

View BVdb publication page

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Harmonizing variant classification for return of results in the All of Us Research Program.

Human Mutation

Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL

Publication Date: 2022-08

Variant appearance in text: KCNQ1: 776G>A; Arg259His

PubMed Link: 34923710

Variant Present in the following documents:

• HUMU-43-1114-s002.xlsx, sheet 1

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: KCNQ1: 776G>A; Arg259His

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.

Clinical And Translational Medicine

Chen, Lulan L; He, Yue Y; Wang, Xiangdong X; Ge, Junbo J; Li, Hua H

Publication Date: 2021-10

Variant appearance in text: KCNQ1: R259H

PubMed Link: 34709746

Variant Present in the following documents:

• Main text
• CTM2-11-e530.pdf

View BVdb publication page

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Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.

European Heart Journal

Walsh, Roddy R; Adler, Arnon A; Amin, Ahmad S AS; Abiusi, Emanuela E; Care, Melanie M; Bikker, Hennie H; Amenta, Simona S; Feilotter, Harriet H; Nannenberg, Eline A EA; Mazzarotto, Francesco F; Trevisan, Valentina V; Garcia, John J; Hershberger, Ray E RE; Perez, Marco V MV; Sturm, Amy C AC; Ware, James S JS; Zareba, Wojciech W; Novelli, Valeria V; Wilde, Arthur A M AAM; Gollob, Michael H MH

Publication Date: 2022-04-14

Variant appearance in text: KCNQ1: Arg259His

PubMed Link: 34557911

Variant Present in the following documents:

• Main text
• ehab687.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: KCNQ1: 776G>A; Arg259His; rs199472720

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.

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

Lee, Christopher C; Elsekaily, Omar O; Kochan, David C DC; Alhalabi, Lubna L; Faizee, Faizan F; Sharp, Richard R; Lindor, Noralane M NM; Kullo, Iftikhar J IJ

Publication Date: 2021-07

Variant appearance in text: KCNQ1: 776G>A; Arg259His

PubMed Link: 33824501

Variant Present in the following documents:

• NIHMS1700422-supplement-Supplementary___Appendix__online_only_material__etc___2.pdf

View BVdb publication page

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A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.

Npj Genomic Medicine

Torrado, Mario M; Fernández, Germán G; Ganoza, Christian A CA; Maneiro, Emilia E; García, Diego D; Sonicheva-Paterson, Natalia N; Rosa, Isaac I; Ochoa, Juan Pablo JP; Santomé, Luis L; Vasichkina, Elena E; Monserrat, Lorenzo L

Publication Date: 2021-03-04

Variant appearance in text: KCNQ1: R259H; rs199472720

PubMed Link: 33664273

Variant Present in the following documents:

• Main text
• 41525_2021_Article_183.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: KCNQ1: R259H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

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

,

Publication Date: 2020-09

Variant appearance in text: KCNQ1: 776G>A; Arg259His

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: KCNQ1: R259H

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fphar-11-00550.pdf

View BVdb publication page

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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: KCNQ1: 776G>A; Arg259His; rs199472720

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: KCNQ1: 776G>A; Arg259His; rs199472720

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1
• pgen.1008409.s003.xlsx, sheet 1

View BVdb publication page

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Upgraded molecular models of the human KCNQ1 potassium channel.

Plos One

Kuenze, Georg G; Duran, Amanda M AM; Woods, Hope H; Brewer, Kathryn R KR; McDonald, Eli Fritz EF; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J

Publication Date: 2019

Variant appearance in text: KCNQ1: R259H

PubMed Link: 31518351

Variant Present in the following documents:

• Main text

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: KCNQ1: 776G>A; R259H

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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Impact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome.

Frontiers In Pharmacology

El-Battrawy, Ibrahim I; Besler, Johanna J; Li, Xin X; Lan, Huan H; Zhao, Zhihan Z; Liebe, Volker V; Schimpf, Rainer R; Lang, Siegfried S; Wolpert, Christian C; Zhou, Xiaobo X; Akin, Ibrahim I; Borggrefe, Martin M

Publication Date: 2019

Variant appearance in text: KCNQ1: R259H

PubMed Link: 31427960

Variant Present in the following documents:

• Main text
• fphar-10-00771.pdf

View BVdb publication page

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Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Journal Of Clinical Medicine

Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà, Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2019-07-16

Variant appearance in text: KCNQ1: Arg259His; rs199472720

PubMed Link: 31315195

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R259H

PubMed Link: 30967788

Variant Present in the following documents:

• fphys-10-00259.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: KCNQ1: 776G>A

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Recent Advances in Short QT Syndrome.

Frontiers In Cardiovascular Medicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2018

Variant appearance in text: Kv7.1: Arg259His

PubMed Link: 30420954

Variant Present in the following documents:

• Main text
• fcvm-05-00149.pdf

View BVdb publication page

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Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling.

Frontiers In Physiology

Whittaker, Dominic G DG; Colman, Michael A MA; Ni, Haibo H; Hancox, Jules C JC; Zhang, Henggui H

Publication Date: 2018

Variant appearance in text: KCNQ1: R259H

PubMed Link: 30337886

Variant Present in the following documents:

• Main text
• fphys-09-01402.pdf

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: rs199472720

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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In silico investigation of a KCNQ1 mutation associated with short QT syndrome.

Scientific Reports

Adeniran, Ismail I; Whittaker, Dominic G DG; El Harchi, Aziza A; Hancox, Jules C JC; Zhang, Henggui H

Publication Date: 2017-08-16

Variant appearance in text: KCNQ1: R259H

PubMed Link: 28814790

Variant Present in the following documents:

• Main text
• 41598_2017_Article_8367.pdf

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: 776G>A; Arg259His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: KCNQ1: R259H; rs199472720

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.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: R259H

PubMed Link: 27261823

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: R259H

PubMed Link: 26346102

Variant Present in the following documents:

• Main text
• jgc-12-04-394.pdf

View BVdb publication page

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Novel insight into the natural history of short QT syndrome.

Journal Of The American College Of Cardiology

Mazzanti, Andrea A; Kanthan, Ajita A; Monteforte, Nicola N; Memmi, Mirella M; Bloise, Raffaella R; Novelli, Valeria V; Miceli, Carlotta C; O'Rourke, Sean S; Borio, Gianluca G; Zienciuk-Krajka, Agnieszka A; Curcio, Antonio A; Surducan, Andreea Elena AE; Colombo, Mario M; Napolitano, Carlo C; Priori, Silvia G SG

Publication Date: 2014-04-08

Variant appearance in text: KCNQ1: R259H

PubMed Link: 24291113

Variant Present in the following documents:

• Main text

View BVdb publication page

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