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: 211G>C; G71R; rs199473420

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

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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: 211G>C; Gly71Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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A case of long QT syndrome type 2 that developed torsades de pointes two days after the initiation of oral β-blocker therapy.

Heartrhythm Case Reports

Yoneda, Fumiya F; Makiyama, Takeru T; Miyahara, Kosuke K; Fukuoka, Yoshitomo Y; Aiba, Takeshi T; Kimura, Takeshi T

Publication Date: 2022-11

Variant appearance in text: rs199473420

PubMed Link: 36618596

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Territory-Wide Chinese Cohort of Long QT Syndrome: Random Survival Forest and Cox Analyses.

Frontiers In Cardiovascular Medicine

Tse, Gary G; Lee, Sharen S; Zhou, Jiandong J; Liu, Tong T; Wong, Ian Chi Kei ICK; Mak, Chloe C; Mok, Ngai Shing NS; Jeevaratnam, Kamalan K; Zhang, Qingpeng Q; Cheng, Shuk Han SH; Wong, Wing Tak WT

Publication Date: 2021

Variant appearance in text: KCNH2: 211G>C

PubMed Link: 33614747

Variant Present in the following documents:

• Main text
• fcvm-08-608592.pdf

View BVdb publication page

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A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.

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

Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ

Publication Date: 2020-10

Variant appearance in text: Kv11.1: G71R

PubMed Link: 32475984

Variant Present in the following documents:

View BVdb publication page

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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: G71R

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: KCNH2: 211G>C; G71R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Bmc Cardiovascular Disorders

Raju, Hariharan H; Ware, James S JS; Skinner, Jonathan R JR; Hedley, Paula L PL; Arno, Gavin G; Love, Donald R DR; van der Werf, Christian C; Tfelt-Hansen, Jacob J; Winkel, Bo Gregers BG; Cohen, Marta C MC; Li, Xinzhong X; John, Shibu S; Sharma, Sanjay S; Jeffery, Steve S; Wilde, Arthur A M AAM; Christiansen, Michael M; Sheppard, Mary N MN; Behr, Elijah R ER

Publication Date: 2019-07-23

Variant appearance in text: KCNH2: G71R; rs199473420

PubMed Link: 31337358

Variant Present in the following documents:

• Main text
• 12872_2019_1154_MOESM1_ESM.pdf
• 12872_2019_Article_1154.pdf

View BVdb publication page

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Genetic polymorphisms of pharmacogenomic VIP variants in the Lisu population of southwestern China: A cohort study.

Medicine

Li, Bin B; Wang, Li L; Lei, Lingyu L; Zhang, Mingxiang M; Niu, Fanglin F; Chen, Peng P; Jin, Tianbo T

Publication Date: 2018-09

Variant appearance in text: KCNH2: Gly71Arg

PubMed Link: 30235667

Variant Present in the following documents:

• medi-97-e12231.pdf

View BVdb publication page

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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: 211G>C; Gly71Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGs.

Plos One

Samol, Alexander A; Gönes, Mehmet M; Zumhagen, Sven S; Bruns, Hans-Jürgen HJ; Paul, Matthias M; Vahlhaus, Christian C; Waltenberger, Johannes J; Schulze-Bahr, Eric E; Eckardt, Lars L; Mönnig, Gerold G

Publication Date: 2016

Variant appearance in text: LQT2: G71R

PubMed Link: 27379800

Variant Present in the following documents:

• Main text
• pone.0158085.pdf

View BVdb publication page

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