Publications:

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Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine

Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W

Publication Date: 2022

Variant appearance in text: LQT2: W1001X

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

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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: KCNH2: 3003G>A; Trp1001*

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome.

Circulation. Arrhythmia And Electrophysiology

Strand, Sarah S; Strasburger, Janette F JF; Cuneo, Bettina F BF; Wakai, Ronald T RT

Publication Date: 2020-05

Variant appearance in text: KCNH2: W1001X

PubMed Link: 32421437

Variant Present in the following documents:

• Main text

View BVdb publication page

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Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits.

Nature Genetics

Benaglio, Paola P; D'Antonio-Chronowska, Agnieszka A; Ma, Wubin W; Yang, Feng F; Young Greenwald, William W WW; Donovan, Margaret K R MKR; DeBoever, Christopher C; Li, He H; Drees, Frauke F; Singhal, Sanghamitra S; Matsui, Hiroko H; van Setten, Jessica J; Sotoodehnia, Nona N; Gaulton, Kyle J KJ; Smith, Erin N EN; D'Antonio, Matteo M; Rosenfeld, Michael G MG; Frazer, Kelly A KA

Publication Date: 2019-10

Variant appearance in text: KCNH2: 3003G>A; Trp1001*; rs121912509

PubMed Link: 31570892

Variant Present in the following documents:

• EMS84089-supplement-Supplementary_Information.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KCNH2: W1001X; rs121912509

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types.

Stem Cell Reports

Panopoulos, Athanasia D AD; D'Antonio, Matteo M; Benaglio, Paola P; Williams, Roy R; Hashem, Sherin I SI; Schuldt, Bernhard M BM; DeBoever, Christopher C; Arias, Angelo D AD; Garcia, Melvin M; Nelson, Bradley C BC; Harismendy, Olivier O; Jakubosky, David A DA; Donovan, Margaret K R MKR; Greenwald, William W WW; Farnam, KathyJean K; Cook, Megan M; Borja, Victor V; Miller, Carl A CA; Grinstein, Jonathan D JD; Drees, Frauke F; Okubo, Jonathan J; Diffenderfer, Kenneth E KE; Hishida, Yuriko Y; Modesto, Veronica V; Dargitz, Carl T CT; Feiring, Rachel R; Zhao, Chang C; Aguirre, Aitor A; McGarry, Thomas J TJ; Matsui, Hiroko H; Li, He H; Reyna, Joaquin J; Rao, Fangwen F; O'Connor, Daniel T DT; Yeo, Gene W GW; Evans, Sylvia M SM; Chi, Neil C NC; Jepsen, Kristen K; Nariai, Naoki N; Müller, Franz-Josef FJ; Goldstein, Lawrence S B LSB; Izpisua Belmonte, Juan Carlos JC; Adler, Eric E; Loring, Jeanne F JF; Berggren, W Travis WT; D'Antonio-Chronowska, Agnieszka A; Smith, Erin N EN; Frazer, Kelly A KA

Publication Date: 2017-04-11

Variant appearance in text: KCNH2: 3003G>A; W1001*

PubMed Link: 28410642

Variant Present in the following documents:

• main.pdf
• mmc2.xlsx, sheet 2
• mmc1.pdf
• mmc7.pdf

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: LQT2: W1001X

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

View BVdb publication page

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RNA interference-based therapeutics for inherited long QT syndrome.

Experimental And Therapeutic Medicine

Li, Guoliang G; Ma, Shuting S; Sun, Chaofeng C

Publication Date: 2015-08

Variant appearance in text: KCNH2: W1001X

PubMed Link: 26622327

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: KCNH2: 3003G>A

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

View BVdb publication page

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In utero diagnosis of long QT syndrome by magnetocardiography.

Circulation

Cuneo, Bettina F BF; Strasburger, Janette F JF; Yu, Suhong S; Horigome, Hitoshi H; Hosono, Takayoshi T; Kandori, Akihiko A; Wakai, Ronald T RT

Publication Date: 2013-11-12

Variant appearance in text: KCNH2: W1001X

PubMed Link: 24218437

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac death.

Frontiers In Physiology

Jagu, Benoît B; Charpentier, Flavien F; Toumaniantz, Gilles G

Publication Date: 2013-09-20

Variant appearance in text: LQT2: W1001X

PubMed Link: 24065925

Variant Present in the following documents:

• Main text
• fphys-04-00254.pdf

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Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.

Journal Of Cardiovascular Pharmacology

Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT

Publication Date: 2010-08

Variant appearance in text: LQT2: W1001X

PubMed Link: 20224422

Variant Present in the following documents:

• Main text

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Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome.

Circulation

Gong, Qiuming Q; Zhang, Li L; Vincent, G Michael GM; Horne, Benjamin D BD; Zhou, Zhengfeng Z

Publication Date: 2007-07-03

Variant appearance in text: LQT2: W1001X

PubMed Link: 17576861

Variant Present in the following documents:

• Main text

View BVdb publication page

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