Publications:

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: KCNH2: 3014G>A; Arg1005Gln; rs199473019

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

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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: R1005Q

PubMed Link: 34502138

Variant Present in the following documents:

• Main text
• ijms-22-09235.pdf

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Electrophysiological characterization of the modified hERGT potassium channel used to obtain the first cryo-EM hERG structure.

Physiological Reports

Zhang, Yihong Y; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2020-10

Variant appearance in text: LQT2: R1005Q

PubMed Link: 33091232

Variant Present in the following documents:

• Main text
• PHY2-8-e14568.pdf

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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: LQT2: R1005Q

PubMed Link: 25417810

Variant Present in the following documents:

• Main text
• nihms634670.pdf

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