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
Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state.
Smajić S et al.
Brain : a Journal of Neurology, 2022
34919646 (PubMed )
Supplement: awab446_supplementary_data.zip › awab446_Supplementary_data_1.pdf
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
Gach A et al.
Archives of Medical Science : Ams, 2022
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.
Delaney A et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort.
Barroso PS et al.
Neuroendocrinology, 2020
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H et al.
American Journal of Human Genetics, 2013
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