Publications:

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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: 1847A>G; Tyr616Cys

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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Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology

Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE

Publication Date: 2022

Variant appearance in text: KCNH2: Y616C

PubMed Link: 36339618

Variant Present in the following documents:

• fphar-13-1010119.pdf

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Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation.

Frontiers In Genetics

Sun, Hairui H; Liu, Xiaowei X; Hao, Xiaoyan X; Zhou, Xiaoxue X; Wang, Jingyi J; Han, Jiancheng J; Liang, Mengmeng M; Zhang, Hongjia H; He, Yihua Y

Publication Date: 2022

Variant appearance in text: KCNH2: 1847A>G; Y616C; rs199472946

PubMed Link: 35281812

Variant Present in the following documents:

• Main text
• fgene-13-821226.pdf
• DataSheet1.xlsx, sheet 2

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Base Editing of Human Pluripotent Stem Cells for Modeling Long QT Syndrome.

Stem Cell Reviews And Reports

Wu, Fujian F; Guo, Tianwei T; Sun, Lixiang L; Li, Furong F; Yang, Xiaofei X

Publication Date: 2022-04

Variant appearance in text: KCNH2: Y616C

PubMed Link: 34997921

Variant Present in the following documents:

• Main text
• 12015_2021_Article_10324.pdf

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Genetics and Clinical Features of Noncompaction Cardiomyopathy in the Fetal Population.

Frontiers In Cardiovascular Medicine

Sun, Hairui H; Hao, Xiaoyan X; Wang, Xin X; Zhou, Xiaoxue X; Zhang, Ye Y; Liu, Xiaowei X; Han, Jiancheng J; Gu, Xiaoyan X; Sun, Lin L; Zhao, Ying Y; Yi, Tong T; Zhang, Hongjia H; He, Yihua Y

Publication Date: 2020

Variant appearance in text: KCNH2: Y616C

PubMed Link: 33553264

Variant Present in the following documents:

• Main text
• fcvm-07-617561.pdf

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Base Editing Mediated Generation of Point Mutations Into Human Pluripotent Stem Cells for Modeling Disease.

Frontiers In Cell And Developmental Biology

Qi, Tao T; Wu, Fujian F; Xie, Yuquan Y; Gao, Siqi S; Li, Miaomiao M; Pu, Jun J; Li, Dali D; Lan, Feng F; Wang, Yongming Y

Publication Date: 2020

Variant appearance in text: LQT2: Y616C

PubMed Link: 33102492

Variant Present in the following documents:

• Main text
• fcell-08-590581.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KCNH2: 1847A>G; Tyr616Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: Y616C

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: 1847A>G; Y616C

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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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: KCNH2: 1847A>G; Tyr616Cys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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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: 1847A>G; Tyr616Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications

Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT

Publication Date: 2014-11-24

Variant appearance in text: Kv11.1: Y616C

PubMed Link: 25417810

Variant Present in the following documents:

• Main text
• nihms634670.pdf

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