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: 932C>T; Thr311Ile

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: 932C>T; Thr311Ile; rs199472746

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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Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.

Annals Of Clinical And Translational Neurology

Soh, Ming S MS; Bagnall, Richard D RD; Bennett, Mark F MF; Bleakley, Lauren E LE; Mohamed Syazwan, Erlina S ES; Phillips, A Marie AM; Chiam, Mathew D F MDF; McKenzie, Chaseley E CE; Hildebrand, Michael M; Crompton, Douglas D; Bahlo, Melanie M; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA

Publication Date: 2021-07

Variant appearance in text: KCNQ1: T311I

PubMed Link: 34002542

Variant Present in the following documents:

• Main text
• ACN3-8-1422.pdf

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Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Frontiers In Neurology

Bleakley, Lauren E LE; Soh, Ming S MS; Bagnall, Richard D RD; Sadleir, Lynette G LG; Gooley, Samuel S; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA

Publication Date: 2020

Variant appearance in text: KCNQ1: Thr311Ile

PubMed Link: 33013630

Variant Present in the following documents:

• Main text
• fneur-11-00925.pdf

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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: T311I

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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Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.

Heartrhythm Case Reports

Paquin, Ashley A; Ye, Dan D; Tester, David J DJ; Kapplinger, Jamie D JD; Zimmermann, Michael T MT; Ackerman, Michael J MJ

Publication Date: 2018-02

Variant appearance in text: KCNQ1: T311I

PubMed Link: 29876285

Variant Present in the following documents:

• Main text
• main.pdf

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Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.

Bmc Medical Genetics

Koponen, Mikael M; Havulinna, Aki S AS; Marjamaa, Annukka A; Tuiskula, Annukka M AM; Salomaa, Veikko V; Laitinen-Forsblom, Päivi J PJ; Piippo, Kirsi K; Toivonen, Lauri L; Kontula, Kimmo K; Viitasalo, Matti M; Swan, Heikki H

Publication Date: 2018-04-05

Variant appearance in text: KCNQ1: T311I

PubMed Link: 29622001

Variant Present in the following documents:

View BVdb publication page

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CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.

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

Whiffin, Nicola N; Walsh, Roddy R; Govind, Risha R; Edwards, Matthew M; Ahmad, Mian M; Zhang, Xiaolei X; Tayal, Upasana U; Buchan, Rachel R; Midwinter, William W; Wilk, Alicja E AE; Najgebauer, Hanna H; Francis, Catherine C; Wilkinson, Sam S; Monk, Thomas T; Brett, Laura L; O'Regan, Declan P DP; Prasad, Sanjay K SK; Morris-Rosendahl, Deborah J DJ; Barton, Paul J R PJR; Edwards, Elizabeth E; Ware, James S JS; Cook, Stuart A SA

Publication Date: 2018-10

Variant appearance in text: KCNQ1: T311I

PubMed Link: 29369293

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: T311I

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: T311I

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: T311I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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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: KCNQ1: T311I

PubMed Link: 25705178

Variant Present in the following documents:

• Main text
• fncel-09-00032.pdf

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Ion channels in genetic and acquired forms of epilepsy.

The Journal Of Physiology

Lerche, Holger H; Shah, Mala M; Beck, Heinz H; Noebels, Jeff J; Johnston, Dan D; Vincent, Angela A

Publication Date: 2013-02-15

Variant appearance in text: Kv7.1: T311I

PubMed Link: 23090947

Variant Present in the following documents:

• Main text

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Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.

Science Translational Medicine

Goldman, A M AM; Glasscock, E E; Yoo, J J; Chen, T T TT; Klassen, T L TL; Noebels, J L JL

Publication Date: 2009-10-14

Variant appearance in text: LQT1: T311I

PubMed Link: 20368164

Variant Present in the following documents:

• Main text

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Transcription factor MEF2A mutations in patients with coronary artery disease.

Human Molecular Genetics

Bhagavatula, M R Krishna MR; Fan, Chun C; Shen, Gong-Qing GQ; Cassano, June J; Plow, Edward F EF; Topol, Eric J EJ; Wang, Qing Q

Publication Date: 2004-12-15

Variant appearance in text: KCNQ1: T311I

PubMed Link: 15496429

Variant Present in the following documents:

• Main text

View BVdb publication page

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