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: 514G>A; Val172Met

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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Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: KCNQ1: 514G>A; rs199472694

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences

, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF

Publication Date: 2023-02-24

Variant appearance in text: KCNQ1: 514G>A; Val172Met

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

View BVdb publication page

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Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications

Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA

Publication Date: 2022-08-30

Variant appearance in text: rs199472694

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1

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: 514G>A; Val172Met

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication.

Frontiers In Genetics

Zhuang, Jianlong J; Chen, Chunnuan C; Wang, Yuanbai Y; Zeng, Shuhong S; Chen, Yu'e Y; Jiang, Yuying Y; Xie, Yingjun Y; Wang, Gaoxiong G

Publication Date: 2022

Variant appearance in text: KCNQ1: V172M

PubMed Link: 35865016

Variant Present in the following documents:

• Main text
• fgene-13-924573.pdf

View BVdb publication page

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Molecular studies in familial dilated cardiomyopathy - A pilot study.

International Journal Of Cardiology. Heart & Vasculature

Mori, Vyom V; Sawhney, J P S JPS; Verma, I C IC; Mehta, Ashwani A; Saxena, Renu R; Passey, Rajiv R; Mohanty, Arun A; Kandpal, Bhuwanesh B; Vivek, B S BS; Sharma, Manish M; Jain, Ashish Kumar AK; Katare, Dipak D

Publication Date: 2022-06

Variant appearance in text: KCNQ1: Val172Met

PubMed Link: 35463915

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.

Cells

Calvete, Oriol O; Reyes, José J; Valdés-Socin, Hernán H; Martin, Paloma P; Marazuela, Mónica M; Barroso, Alicia A; Escalada, Javier J; Castells, Antoni A; Torres-Ruiz, Raúl R; Rodríguez-Perales, Sandra S; Currás-Freixes, María M; Benítez, Javier J

Publication Date: 2021-12-10

Variant appearance in text: KCNQ1: Val172Met

PubMed Link: 34944008

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.

Cells

Calvete, Oriol O; Reyes, José J; Valdés-Socin, Hernán H; Martin, Paloma P; Marazuela, Mónica M; Barroso, Alicia A; Escalada, Javier J; Castells, Antoni A; Torres-Ruiz, Raúl R; Rodríguez-Perales, Sandra S; Currás-Freixes, María M; Benítez, Javier J

Publication Date: 2021-12-10

Variant appearance in text: KCNQ1: Val172Met

PubMed Link: 34944008

Variant Present in the following documents:

• Main text

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: rs199472694

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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Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Heart Rhythm

Clemens, Daniel J DJ; Lentino, Anne R AR; Kapplinger, Jamie D JD; Ye, Dan D; Zhou, Wei W; Tester, David J DJ; Ackerman, Michael J MJ

Publication Date: 2018-04

Variant appearance in text: KCNQ1: V172M

PubMed Link: 29197658

Variant Present in the following documents:

• Main text

View BVdb publication page

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Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.

Molecular Genetics & Genomic Medicine

Bdier, Amnah Y AY; Al-Ghamdi, Saleh S; Verma, Prashant K PK; Dagriri, Khalid K; Alshehri, Bandar B; Jiman, Omamah A OA; Ahmed, Sherif E SE; Wilde, Arthur A M AAM; Bhuiyan, Zahurul A ZA; Al-Aama, Jumana Y JY

Publication Date: 2017-09

Variant appearance in text: KCNQ1: 514G>A

PubMed Link: 28944242

Variant Present in the following documents:

• Main text
• MGG3-5-592.pdf

View BVdb publication page

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Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.

European Journal Of Human Genetics : Ejhg

Christiansen, Sofie Lindgren SL; Hertz, Christin Løth CL; Ferrero-Miliani, Laura L; Dahl, Morten M; Weeke, Peter Ejvin PE; LuCamp, ; Ottesen, Gyda Lolk GL; Frank-Hansen, Rune R; Bundgaard, Henning H; Morling, Niels N

Publication Date: 2016-12

Variant appearance in text: KCNQ1: 514G>A; V172M; rs199472694

PubMed Link: 27650965

Variant Present in the following documents:

• Main text

View BVdb publication page

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