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: 724G>A; Asp242Asn

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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A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism.

Orphanet Journal Of Rare Diseases

Galán-Vidal, Jesús J; Socuéllamos, Paula G PG; Baena-Nuevo, María M; Contreras, Lizbeth L; González, Teresa T; Pérez-Poyato, María S MS; Valenzuela, Carmen C; González-Lamuño, Domingo D; Gandarillas, Alberto A

Publication Date: 2022-09-06

Variant appearance in text: KCNQ1: D242N

PubMed Link: 36068614

Variant Present in the following documents:

• 13023_2022_Article_2499.pdf

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: 724G>A; Asp242Asn

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome.

Frontiers In Cardiovascular Medicine

Rieder, Marina M; Kreifels, Paul P; Stuplich, Judith J; Ziupa, David D; Servatius, Helge H; Nicolai, Luisa L; Castiglione, Alessandro A; Zweier, Christiane C; Asatryan, Babken B; Odening, Katja E KE

Publication Date: 2022

Variant appearance in text: KCNQ1: Asp242Asn

PubMed Link: 35911527

Variant Present in the following documents:

• Main text
• fcvm-09-916036.pdf

View BVdb publication page

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Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology

Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB

Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: D242N

PubMed Link: 34907346

Variant Present in the following documents:

• 42003_2021_Article_2909.pdf

View BVdb publication page

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Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology

Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB

Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: D242N

PubMed Link: 34907346

Variant Present in the following documents:

• 42003_2021_Article_2909.pdf

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: Kv7.1: D242N

PubMed Link: 34709746

Variant Present in the following documents:

• Main text
• CTM2-11-e530.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: 724G>A; Asp242Asn; rs199472712

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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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

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

Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR

Publication Date: 2021-01

Variant appearance in text: KCNQ1: 724G>A

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 12
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 10

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: D242N

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1

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: 724G>A; D242N

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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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: 724G>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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The Brazilian Society of Cardiology and Brazilian Society of Exercise and Sports Medicine Updated Guidelines for Sports and Exercise Cardiology - 2019.

Arquivos Brasileiros De Cardiologia

Ghorayeb, Nabil N; Stein, Ricardo R; Daher, Daniel Jogaib DJ; Silveira, Anderson Donelli da ADD; Ritt, Luiz Eduardo Fonteles LEF; Santos, Daniel Fernando Pellegrino Dos DFPD; Sierra, Ana Paula Rennó APR; Herdy, Artur Haddad AH; Araújo, Claúdio Gil Soares de CGS; Colombo, Cléa Simone Sabino de Souza CSSS; Kopiler, Daniel Arkader DA; Lacerda, Filipe Ferrari Ribeiro de FFR; Lazzoli, José Kawazoe JK; Matos, Luciana Diniz Nagem Janot de LDNJ; Leitão, Marcelo Bichels MB; Francisco, Ricardo Contesini RC; Alô, Rodrigo Otávio Bougleux ROB; Timerman, Sérgio S; Carvalho, Tales de T; Garcia, Thiago Ghorayeb TG

Publication Date: 2019-03

Variant appearance in text: KCNQ1: D242N

PubMed Link: 30916199

Variant Present in the following documents:

• abc-112-03-0326.pdf

View BVdb publication page

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Ion Channel Disorders and Sudden Cardiac Death.

International Journal Of Molecular Sciences

Garcia-Elias, Anna A; Benito, Begoña B

Publication Date: 2018-02-28

Variant appearance in text: LQT1: D242N

PubMed Link: 29495624

Variant Present in the following documents:

• ijms-19-00692.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: KCNQ1: 724G>A; rs199472712

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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Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening.

Nature Communications

Hou, Panpan P; Eldstrom, Jodene J; Shi, Jingyi J; Zhong, Ling L; McFarland, Kelli K; Gao, Yuan Y; Fedida, David D; Cui, Jianmin J

Publication Date: 2017-11-23

Variant appearance in text: KCNQ1: D242N

PubMed Link: 29167462

Variant Present in the following documents:

• Main text
• 41467_2017_Article_1911.pdf
• 41467_2017_1911_MOESM2_ESM.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: 724G>A; Asp242Asn

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: D242N

PubMed Link: 27761162

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: D242N

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: D242N

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: D242N

PubMed Link: 25705178

Variant Present in the following documents:

• Main text
• fncel-09-00032.pdf

View BVdb publication page

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Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation

Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Ackerman, Michael J MJ; Kaufman, Elizabeth S ES; Hofman, Nynke N; Seth, Rahul R; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S

Publication Date: 2007-05-15

Variant appearance in text: KCNQ1: D242N

PubMed Link: 17470695

Variant Present in the following documents:

• Main text

View BVdb publication page

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