Publications:

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: 1681A>G; Arg561Gly

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: R561G

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

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Heritability in genetic heart disease: the role of genetic background.

Open Heart

Jansweijer, Joeri A JA; van Spaendonck-Zwarts, Karin Y KY; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Christiaans, Imke I; van der Smagt, Jasper J; Vermeer, Alexa A; Bos, J Martijn JM; Moss, Arthur J AJ; Swan, Heikki H; Priori, Sylvia G SG; Rydberg, Annika A; Tfelt-Hansen, Jacob J; Ackerman, Michael J MJ; Olivotto, Iacopo I; Charron, Philippe P; Gimeno, Juan R JR; van den Berg, Maarten M; Wilde, Arthur A M AAM; Pinto, Yigal M YM

Publication Date: 2019

Variant appearance in text: KCNQ1: R561G

PubMed Link: 31245010

Variant Present in the following documents:

• openhrt-2018-000929supp001.pdf

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The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.

Frontiers In Endocrinology

Huttunen, Heta H; Hero, Matti M; Lääperi, Mitja M; Känsäkoski, Johanna J; Swan, Heikki H; Hirsch, Joel A JA; Miettinen, Päivi J PJ; Raivio, Taneli T

Publication Date: 2018

Variant appearance in text: LQT1: Arg561Gly

PubMed Link: 29740400

Variant Present in the following documents:

• Main text
• fendo-09-00194.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: R561G

PubMed Link: 29622001

Variant Present in the following documents:

View BVdb publication page