Publications:

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KCNH2: A715A

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.

Journal Of The American Heart Association

Seethala, Srikanth S; Singh, Prabhpreet P; Shusterman, Vladimir V; Ribe, Margareth M; Haugaa, Kristina H KH; Němec, Jan J

Publication Date: 2015-12-16

Variant appearance in text: LQT2: 2145G>C

PubMed Link: 26675252

Variant Present in the following documents:

• Main text
• JAH3-4-e002395.pdf

View BVdb publication page