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: 964A>G; Thr322Ala

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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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: 964A>G; Thr322Ala

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.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: Kv7.1: T322A

PubMed Link: 34709746

Variant Present in the following documents:

• Main text
• CTM2-11-e530.pdf

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: 964A>G

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

View BVdb publication page

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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: 964A>G; Thr322Ala

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: LQT1: T322A

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1

View BVdb publication page

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Reclassification of genetic variants in children with long QT syndrome.

Molecular Genetics & Genomic Medicine

Westphal, Dominik S DS; Burkard, Tobias T; Moscu-Gregor, Alexander A; Gebauer, Roman R; Hessling, Gabriele G; Wolf, Cordula M CM

Publication Date: 2020-09

Variant appearance in text: KCNQ1: 964A>G; Thr322Ala

PubMed Link: 32383558

Variant Present in the following documents:

• MGG3-8-e1300-s001.xlsx, sheet 1

View BVdb publication page

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Serine mutation of a conserved threonine in the hERG K+ channel S6-pore region leads to loss-of-function through trafficking impairment.

Biochemical And Biophysical Research Communications

Al-Moubarak, Ehab E; Zhang, Yihong Y; Dempsey, Christopher E CE; Zhang, Henggui H; Harmer, Stephen C SC; Hancox, Jules C JC

Publication Date: 2020-06-11

Variant appearance in text: KCNQ1: T322A

PubMed Link: 32321643

Variant Present in the following documents:

• Main text
• main.pdf

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: 964A>G; T322A

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: T322A

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: 964A>G; Thr322Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T).

Heartrhythm Case Reports

Rothenberg, Ina I; Piccini, Ilaria I; Wrobel, Eva E; Stallmeyer, Birgit B; Müller, Jovanca J; Greber, Boris B; Strutz-Seebohm, Nathalie N; Schulze-Bahr, Eric E; Schmitt, Nicole N; Seebohm, Guiscard G

Publication Date: 2016-11

Variant appearance in text: LQT1: T322A

PubMed Link: 28491751

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews

Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS

Publication Date: 2017-01

Variant appearance in text: LQT1: T322A

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

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: T322A

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: T322A

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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A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.

Heart Rhythm

Bartos, Daniel C DC; Giudicessi, John R JR; Tester, David J DJ; Ackerman, Michael J MJ; Ohno, Seiko S; Horie, Minoru M; Gollob, Michael H MH; Burgess, Don E DE; Delisle, Brian P BP

Publication Date: 2014-03

Variant appearance in text: Kv7.1: T322A

PubMed Link: 24269949

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation.

Biochemistry

Burgess, Don E DE; Bartos, Daniel C DC; Reloj, Allison R AR; Campbell, Kenneth S KS; Johnson, Jonathan N JN; Tester, David J DJ; Ackerman, Michael J MJ; Fressart, Véronique V; Denjoy, Isabelle I; Guicheney, Pascale P; Moss, Arthur J AJ; Ohno, Seiko S; Horie, Minoru M; Delisle, Brian P BP

Publication Date: 2012-11-13

Variant appearance in text: Kv7.1: T322A

PubMed Link: 23092362

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.

European Heart Journal

Amin, Ahmad S AS; Giudicessi, John R JR; Tijsen, Anke J AJ; Spanjaart, Anne M AM; Reckman, Yolan J YJ; Klemens, Christine A CA; Tanck, Michael W MW; Kapplinger, Jamie D JD; Hofman, Nynke N; Sinner, Moritz F MF; Müller, Martina M; Wijnen, Wino J WJ; Tan, Hanno L HL; Bezzina, Connie R CR; Creemers, Esther E EE; Wilde, Arthur A M AA; Ackerman, Michael J MJ; Pinto, Yigal M YM

Publication Date: 2012-03

Variant appearance in text: KCNQ1: T322A

PubMed Link: 22199116

Variant Present in the following documents:

View BVdb publication page

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Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Biophysical Journal

Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V

Publication Date: 2011-02-16

Variant appearance in text: KCNQ1: T322A

PubMed Link: 21320432

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.

Heart Rhythm

Johnson, Jonathan N JN; Tester, David J DJ; Perry, James J; Salisbury, Benjamin A BA; Reed, Carol R CR; Ackerman, Michael J MJ

Publication Date: 2008-05

Variant appearance in text: LQT1: T322A

PubMed Link: 18452873

Variant Present in the following documents:

• Main text

View BVdb publication page

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