Publications:

---

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: 1672G>C; rs121912516

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCNH2: 1672G>C; Ala558Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells.

Cell Reports Methods

Blanch-Asensio, Albert A; Grandela, Catarina C; Brandão, Karina O KO; de Korte, Tessa T; Mei, Hailiang H; Ariyurek, Yavuz Y; Yiangou, Loukia L; Mol, Mervyn P H MPH; van Meer, Berend J BJ; Kloet, Susan L SL; Mummery, Christine L CL; Davis, Richard P RP

Publication Date: 2022-10-24

Variant appearance in text: KCNH2: 1672G>C

PubMed Link: 36313798

Variant Present in the following documents:

• mmc2.pdf
• mmc1.pdf

View BVdb publication page

---

COVID-19 vaccination in patients with long QT syndrome.

Heart Rhythm O2

Wu, Cheng-I CI; Schwartz, Peter J PJ; Ackerman, Michael J MJ; Wilde, Arthur A M AAM

Publication Date: 2022-08-03

Variant appearance in text: LQT2: A558P

PubMed Link: 35937046

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes.

International Journal Of Molecular Sciences

Nakajima, Tadashi T; Tamura, Shuntaro S; Kurabayashi, Masahiko M; Kaneko, Yoshiaki Y

Publication Date: 2021-04-10

Variant appearance in text: KCNH2: A558P

PubMed Link: 33920294

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR

Publication Date: 2021-01

Variant appearance in text: KCNH2: 1672G>C; Ala558Pro

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 12

View BVdb publication page

---

Torsades De Pointes Electrical Storm Induced by H1N1 in a Patient with KCNH2 Variant of Unknown Significance.

Case Reports In Cardiology

Khiatah, Bashar B; Dukes, Jonathan J; Desai, Christina C; Frugoli, Amanda A

Publication Date: 2020

Variant appearance in text: LQT2: A558P

PubMed Link: 32774932

Variant Present in the following documents:

• Main text
• CRIC2020-8889769.pdf

View BVdb publication page

---

An Overview of Diagnosis and Management Strategies for Long QT Syndrome.

The Journal Of Innovations In Cardiac Rhythm Management

Etheridge, Susan P SP; Cohen, Mitchell I MI

Publication Date: 2017-06

Variant appearance in text: KCNH2: A558P

PubMed Link: 32494455

Variant Present in the following documents:

• Main text
• icrm-08-2750.pdf

View BVdb publication page

---

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: LQT2: A558P

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNH2: 1672G>C; Ala558Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Connexin 43 and CaV1.2 Ion Channel Trafficking in Healthy and Diseased Myocardium.

Circulation. Arrhythmia And Electrophysiology

Basheer, Wassim A WA; Shaw, Robin M RM

Publication Date: 2016-06

Variant appearance in text: LQT2: A558P

PubMed Link: 27266274

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.

The Journal Of Physiology

Perry, Matthew D MD; Ng, Chai Ann CA; Phan, Kevin K; David, Erikka E; Steer, Kieran K; Hunter, Mark J MJ; Mann, Stefan A SA; Imtiaz, Mohammad M; Hill, Adam P AP; Ke, Ying Y; Vandenberg, Jamie I JI

Publication Date: 2016-07-15

Variant appearance in text: Kv11.1: A558P

PubMed Link: 26958806

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT2: A558P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCNH2: A558P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Long QT syndrome: beyond the causal mutation.

The Journal Of Physiology

Amin, Ahmad S AS; Pinto, Yigal M YM; Wilde, Arthur A M AA

Publication Date: 2013-09-01

Variant appearance in text: LQT2: A558P

PubMed Link: 23753525

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Fever-induced QTc prolongation and ventricular fibrillation in a healthy young man.

Yonsei Medical Journal

Lim, Sun Min SM; Pak, Hui-Nam HN; Lee, Moon-Hyoung MH; Kim, Sung Soon SS; Joung, Boyoung B

Publication Date: 2011-11

Variant appearance in text: HERG: A558P

PubMed Link: 22028170

Variant Present in the following documents:

• Main text
• ymj-52-1025.pdf

View BVdb publication page

---

Fever-triggered ventricular arrhythmias in Brugada syndrome and type 2 long-QT syndrome.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

Amin, A S AS; Klemens, C A CA; Verkerk, A O AO; Meregalli, P G PG; Asghari-Roodsari, A A; de Bakker, J M T JM; January, C T CT; Wilde, A A M AA; Tan, H L HL

Publication Date: 2010-03

Variant appearance in text: HERG: A558P

PubMed Link: 20390067

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: A558P

PubMed Link: 20224422

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Fever accentuates transmural dispersion of repolarization and facilitates development of early afterdepolarizations and torsade de pointes under long-QT Conditions.

Circulation. Arrhythmia And Electrophysiology

Burashnikov, Alexander A; Shimizu, Wataru W; Antzelevitch, Charles C

Publication Date: 2008-08

Variant appearance in text: LQT2: A558P

PubMed Link: 19649147

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome.

The Journal Of Clinical Investigation

Amin, Ahmad S AS; Herfst, Lucas J LJ; Delisle, Brian P BP; Klemens, Christine A CA; Rook, Martin B MB; Bezzina, Connie R CR; Underkofler, Heather A S HA; Holzem, Katherine M KM; Ruijter, Jan M JM; Tan, Hanno L HL; January, Craig T CT; Wilde, Arthur A M AA

Publication Date: 2008-07

Variant appearance in text: HERG: A558P

PubMed Link: 18551196

Variant Present in the following documents:

• Main text

View BVdb publication page

---