Publications:

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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia

Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2023-06

Variant appearance in text: KCNH2: 1808G>A

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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: KCNH2: 1808G>A; Gly603Asp

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications

Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM

Publication Date: 2022-06-29

Variant appearance in text: KCNH2: 1808G>A

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine

Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J

Publication Date: 2022

Variant appearance in text: KCNH2: G603D

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

View BVdb publication page

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Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Afford New Opportunities in Inherited Cardiovascular Disease Modeling.

Cardiology Research And Practice

Bayzigitov, Daniel R DR; Medvedev, Sergey P SP; Dementyeva, Elena V EV; Bayramova, Sevda A SA; Pokushalov, Evgeny A EA; Karaskov, Alexander M AM; Zakian, Suren M SM

Publication Date: 2016

Variant appearance in text: KCNH2: G603D

PubMed Link: 27110425

Variant Present in the following documents:

• Main text
• CRP2016-3582380.pdf

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: G603D

PubMed Link: 26622327

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiovascular Disease Modeling Using Patient-Specific Induced Pluripotent Stem Cells.

International Journal Of Molecular Sciences

Tanaka, Atsushi A; Yuasa, Shinsuke S; Node, Koichi K; Fukuda, Keiichi K

Publication Date: 2015-08-12

Variant appearance in text: KCNH2: G603D

PubMed Link: 26274955

Variant Present in the following documents:

• ijms-16-18894-s001.xlsx, sheet 1

View BVdb publication page

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Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes.

Cardiovascular Research

Eschenhagen, Thomas T; Mummery, Christine C; Knollmann, Bjorn C BC

Publication Date: 2015-04-01

Variant appearance in text: KCNH2: G603D

PubMed Link: 25618410

Variant Present in the following documents:

• cvv017.pdf

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Human pluripotent stem cell-derived cardiomyocytes as research and therapeutic tools.

Biomed Research International

Acimovic, Ivana I; Vilotic, Aleksandra A; Pesl, Martin M; Lacampagne, Alain A; Dvorak, Petr P; Rotrekl, Vladimir V; Meli, Albano C AC

Publication Date: 2014

Variant appearance in text: LQT2: G603D

PubMed Link: 24800237

Variant Present in the following documents:

• Main text
• BMRI2014-512831.pdf

View BVdb publication page

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