Publications:

A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.

European Journal Of Medical Research

Tabib, Avisa A; Talebi, Taravat T; Ghasemi, Serwa S; Pourirahim, Maryam M; Naderi, Niloofar N; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2022-12-10

Variant appearance in text: NOTCH1: 2300C>G

PubMed Link: 36496429

Variant Present in the following documents:

• 40001_2022_Article_920.pdf

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Genetic insights into non-syndromic Tetralogy of Fallot.

Frontiers In Physiology

Althali, Nouf J NJ; Hentges, Kathryn E KE

Publication Date: 2022

Variant appearance in text: NOTCH1: 2300C>G

PubMed Link: 36277185

Variant Present in the following documents:

• Main text
• fphys-13-1012665.pdf

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Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Circulation Research

Page, Donna J DJ; Miossec, Matthieu J MJ; Williams, Simon G SG; Monaghan, Richard M RM; Fotiou, Elisavet E; Cordell, Heather J HJ; Sutcliffe, Louise L; Topf, Ana A; Bourgey, Mathieu M; Bourque, Guillaume G; Eveleigh, Robert R; Dunwoodie, Sally L SL; Winlaw, David S DS; Bhattacharya, Shoumo S; Breckpot, Jeroen J; Devriendt, Koenraad K; Gewillig, Marc M; Brook, J David JD; Setchfield, Kerry J KJ; Bu'Lock, Frances A FA; O'Sullivan, John J; Stuart, Graham G; Bezzina, Connie R CR; Mulder, Barbara J M BJM; Postma, Alex V AV; Bentham, James R JR; Baron, Martin M; Bhaskar, Sanjeev S SS; Black, Graeme C GC; Newman, William G WG; Hentges, Kathryn E KE; Lathrop, G Mark GM; Santibanez-Koref, Mauro M; Keavney, Bernard D BD

Publication Date: 2019-02-15

Variant appearance in text: NOTCH1: 2300C>G

PubMed Link: 30582441

Variant Present in the following documents:

• Main text

View BVdb publication page