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: 3404G>A; rs199473547

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

Hancox, J C JC; Du, C Y CY; Butler, A A; Zhang, Y Y; Dempsey, C E CE; Harmer, S C SC; Zhang, H H

Publication Date: 2023-06-19

Variant appearance in text: KCNH2: R1135H

PubMed Link: 37122211

Variant Present in the following documents:

• Main text
• rstb.2022.0165.pdf

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: KCNH2: 3404G>A; Arg1135His

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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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: R1135H

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: KCNH2: 3404G>A; Arg1135His; rs199473547

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Journal Of Clinical Medicine

Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà, Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2019-07-16

Variant appearance in text: KCNH2: Arg1135His; rs199473547

PubMed Link: 31315195

Variant Present in the following documents:

• Main text

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Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.

Heliyon

Butler, Andrew A; Zhang, Yihong Y; Stuart, A Graham AG; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2019-04

Variant appearance in text: LQT2: R1135H

PubMed Link: 31049424

Variant Present in the following documents:

• Main text
• main.pdf

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Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Forensic Sciences Research

Wu, Yeda Y; Ai, Mei M; Bardeesi, Adham Sameer A ASA; Xu, Lunwu L; Zheng, Jingjing J; Zheng, Da D; Yin, Kun K; Wu, Qiuping Q; Zhang, Liyong L; Huang, Lei L; Cheng, Jianding J

Publication Date: 2017

Variant appearance in text: KCNH2: R1135H

PubMed Link: 30483629

Variant Present in the following documents:

• Main text

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Recent Advances in Short QT Syndrome.

Frontiers In Cardiovascular Medicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2018

Variant appearance in text: KCNH2: R1135H

PubMed Link: 30420954

Variant Present in the following documents:

• Main text
• fcvm-05-00149.pdf

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Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.

Circulation

Hosseini, S Mohsen SM; Kim, Raymond R; Udupa, Sharmila S; Costain, Gregory G; Jobling, Rebekah R; Liston, Eriskay E; Jamal, Seema M SM; Szybowska, Marta M; Morel, Chantal F CF; Bowdin, Sarah S; Garcia, John J; Care, Melanie M; Sturm, Amy C AC; Novelli, Valeria V; Ackerman, Michael J MJ; Ware, James S JS; Hershberger, Ray E RE; Wilde, Arthur A M AAM; Gollob, Michael H MH; ,

Publication Date: 2018-09-18

Variant appearance in text: KCNH2: R1135H

PubMed Link: 29959160

Variant Present in the following documents:

• cir-138-1195-s001.pdf

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Ion Channel Disorders and Sudden Cardiac Death.

International Journal Of Molecular Sciences

Garcia-Elias, Anna A; Benito, Begoña B

Publication Date: 2018-02-28

Variant appearance in text: KCNH2: R1135H

PubMed Link: 29495624

Variant Present in the following documents:

• ijms-19-00692.pdf

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Genetics of Brugada syndrome.

Journal Of Arrhythmia

Juang, Jyh-Ming Jimmy JJ; Horie, Minoru M

Publication Date: 2016-10

Variant appearance in text: KCNH2: R1135H

PubMed Link: 27761167

Variant Present in the following documents:

• Main text

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J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge.

Journal Of Arrhythmia

Antzelevitch, Charles C; Yan, Gan-Xin GX; Ackerman, Michael J MJ; Borggrefe, Martin M; Corrado, Domenico D; Guo, Jihong J; Gussak, Ihor I; Hasdemir, Can C; Horie, Minoru M; Huikuri, Heikki H; Ma, Changsheng C; Morita, Hiroshi H; Nam, Gi-Byoung GB; Sacher, Frederic F; Shimizu, Wataru W; Viskin, Sami S; Wilde, Arthur A M AA

Publication Date: 2016-10

Variant appearance in text: KCNH2: R1135H

PubMed Link: 27761155

Variant Present in the following documents:

• main.pdf

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Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Cardiac Electrophysiology Clinics

Chen, Lei L; Sampson, Kevin J KJ; Kass, Robert S RS

Publication Date: 2016-06

Variant appearance in text: HERG: R1135H

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

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Polycomb repressive complex 1 controls uterine decidualization.

Scientific Reports

Bian, Fenghua F; Gao, Fei F; Kartashov, Andrey V AV; Jegga, Anil G AG; Barski, Artem A; Das, Sanjoy K SK

Publication Date: 2016-05-16

Variant appearance in text: KCNH2: R1135H

PubMed Link: 27181215

Variant Present in the following documents:

• srep26061-s1.pdf

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A novel NaV1.5 voltage sensor mutation associated with severe atrial and ventricular arrhythmias.

Journal Of Molecular And Cellular Cardiology

Wang, Hong-Gang HG; Zhu, Wandi W; Kanter, Ronald J RJ; Silva, Jonathan R JR; Honeywell, Christina C; Gow, Robert M RM; Pitt, Geoffrey S GS

Publication Date: 2016-03

Variant appearance in text: HERG: R1135H

PubMed Link: 26801742

Variant Present in the following documents:

• Main text

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Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.

Scientific Reports

Juang, Jyh-Ming Jimmy JM; Lu, Tzu-Pin TP; Lai, Liang-Chuan LC; Ho, Chia-Chuan CC; Liu, Yen-Bin YB; Tsai, Chia-Ti CT; Lin, Lian-Yu LY; Yu, Chih-Chieh CC; Chen, Wen-Jone WJ; Chiang, Fu-Tien FT; Yeh, Shih-Fan Sherri SF; Lai, Ling-Ping LP; Chuang, Eric Y EY; Lin, Jiunn-Lee JL

Publication Date: 2014-10-23

Variant appearance in text: KCNH2: R1135H

PubMed Link: 25339316

Variant Present in the following documents:

• srep06733.pdf

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The genetic component of Brugada syndrome.

Frontiers In Physiology

Nielsen, Morten W MW; Holst, Anders G AG; Olesen, Søren-Peter SP; Olesen, Morten S MS

Publication Date: 2013

Variant appearance in text: KCNH2: R1135H

PubMed Link: 23874304

Variant Present in the following documents:

• Main text
• fphys-04-00179.pdf

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Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.

Nature Reviews. Cardiology

Giudicessi, John R JR; Ackerman, Michael J MJ

Publication Date: 2012-01-31

Variant appearance in text: KCNH2: Arg1135His

PubMed Link: 22290238

Variant Present in the following documents:

• Main text

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Short QT syndrome: from bench to bedside.

Circulation. Arrhythmia And Electrophysiology

Patel, Chinmay C; Yan, Gan-Xin GX; Antzelevitch, Charles C

Publication Date: 2010-08

Variant appearance in text: HERG: R1135H

PubMed Link: 20716721

Variant Present in the following documents:

• Main text

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Drug-induced QT interval shortening: potential harbinger of proarrhythmia and regulatory perspectives.

British Journal Of Pharmacology

Shah, Rashmi R RR

Publication Date: 2010-01

Variant appearance in text: KCNH2: R1135H

PubMed Link: 19563537

Variant Present in the following documents:

• Main text

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