Last Updated: 09/26/2026
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Found 48 publications
De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 12, 2025
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.
Journal: Human genetics
Published: December 16, 2024
Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 02, 2024
Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum.
Journal: medRxiv : the preprint server for health sciences
Published: April 02, 2024
Lack of a genetic risk continuum between pubertal timing in the general population and idiopathic hypogonadotropic hypogonadism.
Journal: Journal of neuroendocrinology
Published: March 21, 2024
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.
Journal: Nature genetics
Published: March 19, 2024
Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations.
Journal: Journal of the Endocrine Society
Published: February 21, 2024
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.
Journal: Human genetics
Published: July 20, 2023
Polycystic Ovary Syndrome Physiologic Pathways Implicated Through Clustering of Genetic Loci.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 05, 2023
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 05, 2023
Behind the scenes: epigenetic mechanisms rule the roost in pubertal timing.
Journal: The lancet. Diabetes & endocrinology
Published: June 04, 2023
POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.
Journal: Frontiers in endocrinology
Published: April 10, 2023
Last Updated: 09/26/2026