Publications:

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H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.

International Journal Of Molecular Sciences

Farrugia, Audrey A; Rollet, Kevin K; Sinniger, Jérome J; Brun, Susana S; Spenle, Caroline C; Ludes, Bertrand B; Taleb, Omar O; Mensah-Nyagan, Ayikoe Guy AG

Publication Date: 2021-08-26

Variant appearance in text: Kv11.1: R1033W

PubMed Link: 34502138

Variant Present in the following documents:

• Main text
• ijms-22-09235.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: 3097C>T; Arg1033Trp; rs199473021

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: KCNH2: 3097C>T; Arg1033Trp

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

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Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

The Journal Of Pediatrics

Chang, Ruey-Kang R RK; Lan, Yueh-Tze YT; Silka, Michael J MJ; Morrow, Hallie H; Kwong, Alan A; Smith-Lang, Janna J; Wallerstein, Robert R; Lin, Henry J HJ

Publication Date: 2014-03

Variant appearance in text: KCNH2: Arg1033Trp

PubMed Link: 24388587

Variant Present in the following documents:

• Main text

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The genetics of pro-arrhythmic adverse drug reactions.

British Journal Of Clinical Pharmacology

Petropoulou, Evmorfia E; Jamshidi, Yalda Y; Behr, Elijah R ER

Publication Date: 2014-04

Variant appearance in text: LQT2: R1033W

PubMed Link: 23834499

Variant Present in the following documents:

• Main text

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Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes.

The Pharmacogenomics Journal

Ramirez, A H AH; Shaffer, C M CM; Delaney, J T JT; Sexton, D P DP; Levy, S E SE; Rieder, M J MJ; Nickerson, D A DA; George, A L AL; Roden, D M DM

Publication Date: 2013-08

Variant appearance in text: KCNH2: Arg1033Trp

PubMed Link: 22584458

Variant Present in the following documents:

• Main text
• nihms-370050.pdf

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