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: 40C>T; Arg14Cys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Disease-linked supertrafficking of a potassium channel.

The Journal Of Biological Chemistry

Huang, Hui H; Chamness, Laura M LM; Vanoye, Carlos G CG; Kuenze, Georg G; Meiler, Jens J; George, Alfred L AL; Schlebach, Jonathan Patrick JP; Sanders, Charles R CR

Publication Date: 2021

Variant appearance in text: KCNQ1: R14C

PubMed Link: 33600800

Variant Present in the following documents:

• mmc1.pdf

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Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg

Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS

Publication Date: 2021-07

Variant appearance in text: KCNQ1: 40C>T; Arg14Cys

PubMed Link: 33279945

Variant Present in the following documents:

• 41431_2020_784_MOESM3_ESM.xlsx, sheet 1

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Genetics and Epigenetics of Atrial Fibrillation.

International Journal Of Molecular Sciences

Lozano-Velasco, Estefanía E; Franco, Diego D; Aranega, Amelia A; Daimi, Houria H

Publication Date: 2020-08-10

Variant appearance in text: KCNQ1: R14C

PubMed Link: 32784971

Variant Present in the following documents:

• Main text
• ijms-21-05717.pdf

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Losartan inhibits hyposmotic-induced increase of IKs current and shortening of action potential duration in guinea pig atrial myocytes.

Anatolian Journal Of Cardiology

Gao, Jie J; Tian, Yun Y; Xie, Xiaolu X; Zhao, Jin J; Liu, Chuan-Hao CH; Sheng, Ying Y; Cao, Fang F

Publication Date: 2020-01

Variant appearance in text: KCNQ1: R14C

PubMed Link: 31911569

Variant Present in the following documents:

• Main text
• AJC-23-35.pdf

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Lone AF - Etiologic Factors and Genetic Insights into Pathophysiolgy.

Journal Of Atrial Fibrillation

Parvez, Babar B; Darbar, Dawood D

Publication Date: 2010

Variant appearance in text: KCNQ1: R14C

PubMed Link: 28496656

Variant Present in the following documents:

• Main text

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Genetic Risk Scores for Atrial Fibrillation: Do They Improve Risk Estimation?

The Canadian Journal Of Cardiology

Huang, Henry D HD; Darbar, Dawood D

Publication Date: 2017-04

Variant appearance in text: KCNQ1: R14C

PubMed Link: 28129965

Variant Present in the following documents:

• Main text

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: KCNQ1: 40C>T

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

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Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.

Heart Asia

Chen, Lin Y LY; Goh, June M JM; Wong, Raymond C RC; Hsu, Li-Fern LF; Foo, David D; Benditt, David G DG; Ling, Lieng H LH; Heng, Chew K CK

Publication Date: 2010

Variant appearance in text: KCNQ1: R14C

PubMed Link: 27325960

Variant Present in the following documents:

• Main text

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KCNA5 gene polymorphism associate with idiopathic atrial fibrillation.

International Journal Of Clinical And Experimental Medicine

Tian, Li L; Liu, Gang G; Wang, Le L; Zheng, Mingqi M; Li, Yongjun Y

Publication Date: 2015

Variant appearance in text: KCNQ1: R14C

PubMed Link: 26309673

Variant Present in the following documents:

• Main text

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The Role of Pharmacogenetics in Atrial Fibrillation Therapeutics: Is Personalized Therapy in Sight?

Journal Of Cardiovascular Pharmacology

Darbar, Dawood D

Publication Date: 2016-01

Variant appearance in text: KCNQ1: R14C

PubMed Link: 25970841

Variant Present in the following documents:

• Main text

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Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg

Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH

Publication Date: 2014-03

Variant appearance in text: KCNQ1: 40C>T; Arg14Cys

PubMed Link: 23838598

Variant Present in the following documents:

• Main text

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Genetic mechanisms of atrial fibrillation: impact on response to treatment.

Nature Reviews. Cardiology

Darbar, Dawood D; Roden, Dan M DM

Publication Date: 2013-06

Variant appearance in text: KCNQ1: R14C

PubMed Link: 23591267

Variant Present in the following documents:

• Main text

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Genetics of atrial fibrillation.

Heart Failure Clinics

Lubitz, Steven A SA; Yi, B Alexander BA; Ellinor, Patrick T PT

Publication Date: 2010-04

Variant appearance in text: KCNQ1: R14C

PubMed Link: 20347792

Variant Present in the following documents:

• Main text

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Genetics of atrial fibrillation.

Cardiology Clinics

Lubitz, Steven A SA; Yi, B Alexander BA; Ellinor, Patrick T PT

Publication Date: 2009-02

Variant appearance in text: KCNQ1: R14C

PubMed Link: 19111761

Variant Present in the following documents:

• Main text

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Genetics of atrial fibrillation.

The Medical Clinics Of North America

Ellinor, Patrick T PT; Yi, B Alexander BA; MacRae, Calum A CA

Publication Date: 2008-01

Variant appearance in text: KCNQ1: R14C

PubMed Link: 18060996

Variant Present in the following documents:

• Main text

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