Associated Papers
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Montenegro LR et al.
Clinics (sao Paulo, Brazil), 2021
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.
Ganesh S et al.
Psychiatry and Clinical Neurosciences, 2019
30367527 (PubMed )
Supplement: PCN-73-11-s002.xlsx › Table_3
NR5A1 mutations are not associated with male infertility in Indian men.
Sudhakar DVS et al.
Andrologia, 2018
Genome-wide characteristics of de novo mutations in autism.
Yuen RK et al.
Npj Genomic Medicine, 2016
27525107 (PubMed )
Supplement: npjgenmed201627-s3.xlsx › Table_S10
Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations.
Ferlin A et al.
Fertility and Sterility, 2015
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