Publications:

A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity.

Clinical And Translational Medicine

Oliveira-Mendes, Barbara B; Feliciangeli, Sylvain S; Ménard, Mélissa M; Chatelain, Frank F; Alameh, Malak M; Montnach, Jérôme J; Nicolas, Sébastien S; Ollivier, Béatrice B; Barc, Julien J; Baró, Isabelle I; Schott, Jean-Jacques JJ; Probst, Vincent V; Kyndt, Florence F; Denjoy, Isabelle I; Lesage, Florian F; Loussouarn, Gildas G; De Waard, Michel M

Publication Date: 2021-11

Variant appearance in text: KCNH2: R35W

PubMed Link: 34841674

Variant Present in the following documents:

• CTM2-11-e609-s001.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: R35W

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

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High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance.

Scientific Reports

Steffensen, Annette Buur AB; Refaat, Marwan M MM; David, Jens-Peter JP; Mujezinovic, Amer A; Calloe, Kirstine K; Wojciak, Julianne J; Nussbaum, Robert L RL; Scheinman, Melvin M MM; Schmitt, Nicole N

Publication Date: 2015-06-12

Variant appearance in text: KCNH2: R35W

PubMed Link: 26066609

Variant Present in the following documents:

• Main text
• srep10009.pdf

View BVdb publication page