Publications:

Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.

Npj Genomic Medicine

Lacaze, Paul P; Sebra, Robert R; Riaz, Moeen M; Ingles, Jodie J; Tiller, Jane J; Thompson, Bryony A BA; James, Paul A PA; Fatkin, Diane D; Semsarian, Christopher C; Reid, Christopher M CM; Tonkin, Andrew M AM; Winship, Ingrid I; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-06-16

Variant appearance in text: KCNQ1: 23C>T

PubMed Link: 34135346

Variant Present in the following documents:

• 41525_2021_Article_211.pdf

View BVdb publication page

Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: KCNQ1: 23C>T

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

View BVdb publication page