Associated Papers
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels.
Motazacker MM et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
Functional significance of SRJ domain mutations in CITED2.
Chen CM et al.
Plos One, 2012
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.
Sperling S et al.
Human Mutation, 2005
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