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Human Molecular Genetics|October 25, 2022
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndromeElla Thomson, Minh Tran, Gorjana Robevska, et al.
Genes|November 24, 2022
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian InsufficiencyBrianna L Kline, Sylvie Jaillard, Katrina M Bell, et al.
Molecular and Cellular Endocrinology|January 9, 2025
Functional analysis of SRY variants in individuals with 46,XY differences of sex developmentFirman P Idris, Jocelyn van den Bergen, Gorjana Robevska, et al.
Stem Cell Research|March 8, 2024
Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC linesLucas G A Ferreira, Mauricio C Cabral-da-Silva, Svenja Pachernegg, et al.
Nature Communications|July 25, 2019
Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9Brittany Croft, Thomas Ohnesorg, Jacqueline Hewitt, et al.
Clinical Genetics|May 23, 2024
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiencyElena J Tucker, Michael F Sharp, Anna Lokchine, et al.
Nature Communications|December 16, 2018
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9Brittany Croft, Thomas Ohnesorg, Jacqueline Hewitt, et al.
Genes|March 28, 2024
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse ModelShabnam Bakhshalizadeh, Anthony D Bird, Rajini Sreenivasan, et al.
Molecular and Cellular Endocrinology|March 23, 2024
Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosisShabnam Bakhshalizadeh, Fateme Afkhami, Katrina M Bell, et al.
Biology of Reproduction|January 29, 2026
RNA exosome component EXOSC10 variants identified in a patient with premature ovarian insufficiencyBrianna L Kline, Izaac L Moran, Xuebi Cai, et al.
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