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: 332A>G; Tyr111Cys

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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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCNQ1: 332A>G

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.

Orphanet Journal Of Rare Diseases

Sieliwonczyk, Ewa E; Alaerts, Maaike M; Simons, Eline E; Snyders, Dirk D; Nijak, Aleksandra A; Vandendriessche, Bert B; Schepers, Dorien D; Akdeniz, Dogan D; Van Craenenbroeck, Emeline E; Knaepen, Katleen K; Rabaut, Laura L; Heidbuchel, Hein H; Van Laer, Lut L; Saenen, Johan J; Labro, Alain J AJ; Loeys, Bart B

Publication Date: 2023-01-31

Variant appearance in text: KCNQ1: Tyr111Cys

PubMed Link: 36721196

Variant Present in the following documents:

• Main text
• 13023_2023_Article_2618.pdf

View BVdb publication page

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Accelerated QT adaptation following atropine-induced heart rate increase in LQT1 patients versus healthy controls: A sign of disturbed hysteresis.

Physiological Reports

Dahlberg, Pia P; Axelsson, Karl-Jonas KJ; Jensen, Steen M SM; Lundahl, Gunilla G; Vahedi, Farzad F; Perkins, Rosie R; Gransberg, Lennart L; Bergfeldt, Lennart L

Publication Date: 2022-11

Variant appearance in text: LQT1: Y111C

PubMed Link: 36324292

Variant Present in the following documents:

• PHY2-10-e15487-s001.pdf

View BVdb publication page

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To Modify or Not to Modify: Allele-Specific Effects of 3'UTR-KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant-Negative Mutation.

Journal Of The American Heart Association

Winbo, Annika A; Diamant, Ulla-Britt UB; Persson, Johan J; Jensen, Steen M SM; Rydberg, Annika A

Publication Date: 2022-09-20

Variant appearance in text: KCNQ1: 332A>G

PubMed Link: 36102229

Variant Present in the following documents:

• Main text
• JAH3-11-e025981.pdf

View BVdb publication page

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KCNQ1-deficient and KCNQ1-mutant human embryonic stem cell-derived cardiomyocytes for modeling QT prolongation.

Stem Cell Research & Therapy

Song, Yuanxiu Y; Guo, Tianwei T; Jiang, Youxu Y; Zhu, Min M; Wang, Hongyue H; Lu, Wenjing W; Jiang, Mengqi M; Qi, Man M; Lan, Feng F; Cui, Ming M

Publication Date: 2022-06-28

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 35765105

Variant Present in the following documents:

• Main text
• 13287_2022_Article_2964.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: 332A>G; Tyr111Cys; rs199472678

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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Precision Medicine and cardiac channelopathies: when dreams meet reality.

European Heart Journal

Gnecchi, Massimiliano M; Sala, Luca L; Schwartz, Peter J PJ

Publication Date: 2021-05-01

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 33686390

Variant Present in the following documents:

• Main text
• ehab007.pdf

View BVdb publication page

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Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.

Scientific Reports

Synková, Iva I; Bébarová, Markéta M; Andršová, Irena I; Chmelikova, Larisa L; Švecová, Olga O; Hošek, Jan J; Pásek, Michal M; Vít, Pavel P; Valášková, Iveta I; Gaillyová, Renata R; Navrátil, Rostislav R; Novotný, Tomáš T

Publication Date: 2021-02-11

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 33574382

Variant Present in the following documents:

• 41598_2021_Article_81670.pdf

View BVdb publication page

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KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Circulation. Genomic And Precision Medicine

Streeten, Elizabeth A EA; See, Vincent Y VY; Jeng, Linda B J LBJ; Maloney, Kristin A KA; Lynch, Megan M; Glazer, Andrew M AM; Yang, Tao T; Roden, Dan D; Pollin, Toni I TI; Daue, Melanie M; Ryan, Kathleen A KA; Van Hout, Cristopher C; Gosalia, Nehal N; Gonzaga-Jauregui, Claudia C; Economides, Aris A; Perry, James A JA; O'Connell, Jeffrey J; Beitelshees, Amber A; Palmer, Kathleen K; Mitchell, Braxton D BD; Shuldiner, Alan R AR; ,

Publication Date: 2020-12

Variant appearance in text: KCNQ1: 332A>G

PubMed Link: 33141630

Variant Present in the following documents:

• Main text
• hcg-13-e003133-s003.pdf
• hcg-13-e003133.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: 332A>G

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM1_ESM.pdf
• 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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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: 332A>G; Tyr111Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Plos Computational Biology

Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE

Publication Date: 2020-08

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 32797034

Variant Present in the following documents:

• Main text
• pcbi.1008109.pdf

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: Y111C

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: 332A>G; Tyr111Cys

PubMed Link: 32383558

Variant Present in the following documents:

• MGG3-8-e1300-s001.xlsx, sheet 1

View BVdb publication page

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MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes.

Cardiovascular Research

Lee, Yee-Ki YK; Sala, Luca L; Mura, Manuela M; Rocchetti, Marcella M; Pedrazzini, Matteo M; Ran, Xinru X; Mak, Timothy S H TSH; Crotti, Lia L; Sham, Pak C PC; Torre, Eleonora E; Zaza, Antonio A; Schwartz, Peter J PJ; Tse, Hung-Fat HF; Gnecchi, Massimiliano M

Publication Date: 2021-02-22

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 32173736

Variant Present in the following documents:

• Main text
• cvaa019.pdf

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: Y111C

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: 332A>G; Y111C

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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Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Acta Cardiologica Sinica

Dehghani-Samani, Amir A; Madreseh-Ghahfarokhi, Samin S; Dehghani-Samani, Azam A

Publication Date: 2019-03

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 30930557

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: KCNQ1: 332A>G; Tyr111Cys; rs199472678

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation.

Journal Of Visualized Experiments : Jove

Jones, Edward G EG; Landstrom, Andrew P AP

Publication Date: 2019-01-16

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 30735170

Variant Present in the following documents:

• Main text

View BVdb publication page

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Probing the Dynamics and Structural Topology of the Reconstituted Human KCNQ1 Voltage Sensor Domain (Q1-VSD) in Lipid Bilayers Using Electron Paramagnetic Resonance Spectroscopy.

Biochemistry

Dixit, Gunjan G; Sahu, Indra D ID; Reynolds, Warren D WD; Wadsworth, Tessa M TM; Harding, Benjamin D BD; Jaycox, Colleen K CK; Dabney-Smith, Carole C; Sanders, Charles R CR; Lorigan, Gary A GA

Publication Date: 2019-02-19

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 30620191

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

Circulation. Genomic And Precision Medicine

Vanoye, Carlos G CG; Desai, Reshma R RR; Fabre, Katarina L KL; Gallagher, Shannon L SL; Potet, Franck F; DeKeyser, Jean-Marc JM; Macaya, Daniela D; Meiler, Jens J; Sanders, Charles R CR; George, Alfred L AL

Publication Date: 2018-11

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 30571187

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Science Advances

Huang, Hui H; Kuenze, Georg G; Smith, Jarrod A JA; Taylor, Keenan C KC; Duran, Amanda M AM; Hadziselimovic, Arina A; Meiler, Jens J; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR

Publication Date: 2018-03

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 29532034

Variant Present in the following documents:

• Main text
• aar2631.pdf
• aar2631_SM.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: 332A>G; rs199472678

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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Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.

Hereditas

Olsson, K Sigvard KS; Wålinder, Olof O; Jansson, Ulf U; Wilbe, Maria M; Bondeson, Marie-Louise ML; Stattin, Eva-Lena EL; Raha-Chowdhury, Ruma R; Williams, Roger R

Publication Date: 2017

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 29270100

Variant Present in the following documents:

• Main text
• 41065_2017_Article_52.pdf

View BVdb publication page

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Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.

Bmc Medical Genetics

Winbo, Annika A; Stattin, Eva-Lena EL; Westin, Ida Maria IM; Norberg, Anna A; Persson, Johan J; Jensen, Steen M SM; Rydberg, Annika A

Publication Date: 2017-07-18

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 28720088

Variant Present in the following documents:

• Main text
• 12881_2017_Article_435.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: 332A>G; Tyr111Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: KCNQ1: Y111C

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

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: Y111C

PubMed Link: 27761162

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A new hERG allosteric modulator rescues genetic and drug-induced long-QT syndrome phenotypes in cardiomyocytes from isogenic pairs of patient induced pluripotent stem cells.

Embo Molecular Medicine

Sala, Luca L; Yu, Zhiyi Z; Ward-van Oostwaard, Dorien D; van Veldhoven, Jacobus Pd JP; Moretti, Alessandra A; Laugwitz, Karl-Ludwig KL; Mummery, Christine L CL; IJzerman, Adriaan P AP; Bellin, Milena M

Publication Date: 2016-09

Variant appearance in text: LQT1: Y111C

PubMed Link: 27470144

Variant Present in the following documents:

• EMMM-8-1065.pdf

View BVdb publication page

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The Role of the Carboxyl Terminus Helix C-D Linker in Regulating KCNQ3 K+ Current Amplitudes by Controlling Channel Trafficking.

Plos One

Choveau, Frank S FS; Zhang, Jie J; Bierbower, Sonya M SM; Sharma, Ramaswamy R; Shapiro, Mark S MS

Publication Date: 2015

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 26692086

Variant Present in the following documents:

• Main text
• pone.0145367.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: Y111C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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We only find what we look for: fetal heart rate and the diagnosis of long-QT syndrome.

Circulation. Arrhythmia And Electrophysiology

Cuneo, Bettina F BF; Strasburger, Janette F JF

Publication Date: 2015-08

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 26286300

Variant Present in the following documents:

• Main text

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: Y111C

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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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: Y111C

PubMed Link: 24552659

Variant Present in the following documents:

• Main text
• 1471-2261-14-22.pdf

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: Y111C

PubMed Link: 23158531

Variant Present in the following documents:

• Main text

View BVdb publication page

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Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders

Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A

Publication Date: 2012-10-25

Variant appearance in text: KCNQ1: 332A>G; Y111C

PubMed Link: 23098067

Variant Present in the following documents:

• Main text
• 1471-2261-12-95.pdf

View BVdb publication page

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Regions of KCNQ K(+) channels controlling functional expression.

Frontiers In Physiology

Choveau, Frank S FS; Shapiro, Mark S MS

Publication Date: 2012

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 23087646

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Mayo Clinic Proceedings

Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Haglund, Carla M CM; Ackerman, Michael J MJ

Publication Date: 2012-06

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 22677073

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

Hofman, N N; Jongbloed, R R; Postema, P G PG; Nannenberg, E E; Alders, M M; Wilde, A A M AA

Publication Date: 2011-01

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 21350584

Variant Present in the following documents:

• Main text
• 12471_2010_Article_46.pdf

View BVdb publication page

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Nature's genetic gradients and the clinical phenotype.

Circulation. Cardiovascular Genetics

Marian, Ali J AJ

Publication Date: 2009-12

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 20031631

Variant Present in the following documents:

• Main text

View BVdb publication page

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KCNQ1 and KCNE1 K+ channel components are involved in early left-right patterning in Xenopus laevis embryos.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology

Morokuma, Junji J; Blackiston, Douglas D; Levin, Michael M

Publication Date: 2008

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 18453744

Variant Present in the following documents:

• Main text

View BVdb publication page

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Kv7.1 (KCNQ1) properties and channelopathies.

The Journal Of Physiology

Peroz, David D; Rodriguez, Nicolas N; Choveau, Frank F; Baró, Isabelle I; Mérot, Jean J; Loussouarn, Gildas G

Publication Date: 2008-04-01

Variant appearance in text: KCNQ1: Y111C

PubMed Link: 18174212

Variant Present in the following documents:

• Main text

View BVdb publication page

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