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: rs62514956

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Human Mutation

Grozeva, Detelina D; Carss, Keren K; Spasic-Boskovic, Olivera O; Tejada, Maria-Isabel MI; Gecz, Jozef J; Shaw, Marie M; Corbett, Mark M; Haan, Eric E; Thompson, Elizabeth E; Friend, Kathryn K; Hussain, Zaamin Z; Hackett, Anna A; Field, Michael M; Renieri, Alessandra A; Stevenson, Roger R; Schwartz, Charles C; Floyd, James A B JA; Bentham, Jamie J; Cosgrove, Catherine C; Keavney, Bernard B; Bhattacharya, Shoumo S; , ; , ; , ; Hurles, Matthew M; Raymond, F Lucy FL

Publication Date: 2015-12

Variant appearance in text: rs62514956

PubMed Link: 26350204

Variant Present in the following documents:

• HUMU-36-1197-s001.pdf

View BVdb publication page