Publications:

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.

American Journal Of Human Genetics

Guo, Tingwei T; Chung, Jonathan H JH; Wang, Tao T; McDonald-McGinn, Donna M DM; Kates, Wendy R WR; Hawuła, Wanda W; Coleman, Karlene K; Zackai, Elaine E; Emanuel, Beverly S BS; Morrow, Bernice E BE

Publication Date: 2015-12-03

Variant appearance in text: RREB1: 3191C>T; Pro1064Leu; rs143874633

PubMed Link: 26608785

Variant Present in the following documents:

• Main text

View BVdb publication page

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: RREB1: P1064L; rs143874633

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page