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: 568C>T; Arg190Trp

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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Predicting response to enzalutamide and abiraterone in metastatic prostate cancer using whole-omics machine learning.

Nature Communications

de Jong, Anouk C AC; Danyi, Alexandra A; van Riet, Job J; de Wit, Ronald R; Sjöström, Martin M; Feng, Felix F; de Ridder, Jeroen J; Lolkema, Martijn P MP

Publication Date: 2023-04-08

Variant appearance in text: KCNQ1: R190W; rs199473662

PubMed Link: 37031196

Variant Present in the following documents:

• 41467_2023_37647_MOESM4_ESM.xlsx, sheet 6

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: 568C>T; Arg190Trp

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Use of hiPSC-Derived Cardiomyocytes to Rule Out Proarrhythmic Effects of Drugs: The Case of Hydroxychloroquine in COVID-19.

Frontiers In Physiology

Sala, Luca L; Leonov, Vladislav V; Mura, Manuela M; Giannetti, Federica F; Khudiakov, Aleksandr A; Moretti, Alessandra A; Crotti, Lia L; Gnecchi, Massimiliano M; Schwartz, Peter J PJ

Publication Date: 2021

Variant appearance in text: KCNQ1: R190W

PubMed Link: 35153806

Variant Present in the following documents:

• Main text
• fphys-12-730127.pdf

View BVdb publication page

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Effect of moderate potassium-elevating treatment in long QT syndrome: the TriQarr Potassium Study.

Open Heart

Marstrand, Peter P; Almatlouh, Kasim K; Kanters, Jørgen K JK; Graff, Claus C; Christensen, Alex Hørby AH; Bundgaard, Henning H; Theilade, Juliane J

Publication Date: 2021-09

Variant appearance in text: KCNQ1: 568C>T; R190W

PubMed Link: 34531279

Variant Present in the following documents:

• openhrt-2021-001670supp001.pdf

View BVdb publication page

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Unusual Cause of Bidirectional Ventricular Rhythm.

Jacc. Case Reports

Chakraborty, Praloy P; Isser, Hermohander Singh HS; Arava, Sudheer S; Bhatia, Mona M; Mandal, Kausik K; Jahangir, Arshad A

Publication Date: 2019-06

Variant appearance in text: KCNQ1: R190W

PubMed Link: 34316734

Variant Present in the following documents:

• main.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: 568C>T; Arg190Trp; rs199473662

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: 568C>T

PubMed Link: 32893267

Variant Present in the following documents:

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

View BVdb publication page

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Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome.

Circulation. Arrhythmia And Electrophysiology

Strand, Sarah S; Strasburger, Janette F JF; Cuneo, Bettina F BF; Wakai, Ronald T RT

Publication Date: 2020-05

Variant appearance in text: KCNQ1: R190W

PubMed Link: 32421437

Variant Present in the following documents:

• Main text

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: R190W

PubMed Link: 31518351

Variant Present in the following documents:

• Main text
• pone.0220415.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: 568C>T; R190W

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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Sudden Cardiac Death (SCD) - risk stratification and prediction with molecular biomarkers.

Journal Of Biomedical Science

Osman, Junaida J; Tan, Shing Cheng SC; Lee, Pey Yee PY; Low, Teck Yew TY; Jamal, Rahman R

Publication Date: 2019-05-22

Variant appearance in text: KCNQ1: Arg190Trp

PubMed Link: 31118017

Variant Present in the following documents:

• Main text
• 12929_2019_Article_535.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: rs199473662

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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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: 568C>T; Arg190Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Novel Kv7.1-phosphatidylinositol 4,5-bisphosphate interaction sites uncovered by charge neutralization scanning.

The Journal Of Biological Chemistry

Eckey, Karina K; Wrobel, Eva E; Strutz-Seebohm, Nathalie N; Pott, Lutz L; Schmitt, Nicole N; Seebohm, Guiscard G

Publication Date: 2014-08-15

Variant appearance in text: KCNQ1: R190W

PubMed Link: 24947509

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.

Bmc Cardiovascular Disorders

Winbo, Annika A; Stattin, Eva-Lena EL; Nordin, Charlotte C; Diamant, Ulla-Britt UB; Persson, Johan J; Jensen, Steen M SM; Rydberg, Annika A

Publication Date: 2014-02-19

Variant appearance in text: KCNQ1: 568C>T

PubMed Link: 24552659

Variant Present in the following documents:

• Main text
• 1471-2261-14-22.pdf

View BVdb publication page

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In utero diagnosis of long QT syndrome by magnetocardiography.

Circulation

Cuneo, Bettina F BF; Strasburger, Janette F JF; Yu, Suhong S; Horigome, Hitoshi H; Hosono, Takayoshi T; Kandori, Akihiko A; Wakai, Ronald T RT

Publication Date: 2013-11-12

Variant appearance in text: KCNQ1: R190W

PubMed Link: 24218437

Variant Present in the following documents:

• Main text

View BVdb publication page

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Induced pluripotent stem cell-derived cardiomyocytes in studies of inherited arrhythmias.

The Journal Of Clinical Investigation

Priori, Silvia G SG; Napolitano, Carlo C; Di Pasquale, Elisa E; Condorelli, Gianluigi G

Publication Date: 2013-01

Variant appearance in text: KCNQ1: R190W

PubMed Link: 23281414

Variant Present in the following documents:

• Main text

View BVdb publication page

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Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

Journal Of The American College Of Cardiology

Crotti, Lia L; Spazzolini, Carla C; Porretta, Alessandra P AP; Dagradi, Federica F; Taravelli, Erika E; Petracci, Barbara B; Vicentini, Alessandro A; Pedrazzini, Matteo M; La Rovere, Maria Teresa MT; Vanoli, Emilio E; Goosen, Althea A; Heradien, Marshall M; George, Alfred L AL; Brink, Paul A PA; Schwartz, Peter J PJ

Publication Date: 2012-12-18

Variant appearance in text: KCNQ1: R190W

PubMed Link: 23158531

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of the congenital long-QT syndrome.

Circulation

Schwartz, Peter J PJ; Stramba-Badiale, Marco M; Crotti, Lia L; Pedrazzini, Matteo M; Besana, Alessandra A; Bosi, Giuliano G; Gabbarini, Fulvio F; Goulene, Karine K; Insolia, Roberto R; Mannarino, Savina S; Mosca, Fabio F; Nespoli, Luigi L; Rimini, Alessandro A; Rosati, Enrico E; Salice, Patrizia P; Spazzolini, Carla C

Publication Date: 2009-11-03

Variant appearance in text: KCNQ1: R190W

PubMed Link: 19841298

Variant Present in the following documents:

• Main text

View BVdb publication page

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