Author

Andrew H. Sinclair

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Review Open access Aug 2026

The role of mitochondrial dysfunction and genetics in female infertility and premature ovarian insufficiency.

BACKGROUND Female infertility occurs in ∼37% of infertile couples, while premature ovarian insufficiency (POI) impacts 1-3.7% of women under the age of 40. POI is clinically heterogeneous, with various genetic pathways associated with its pathogenesis. Mitochondrial diseases (MDs) are a broad group of clinically hetero...

Brianna L Kline, A. Compton, A. E. Frazier et al. · Human Reproduction Update · 0 citations

Open access Sep 2026

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population

Abstract Differences of sex development (DSD) are a group of rare congenital conditions defined by atypical chromosomal, gonadal, and/or hormonal sex. Despite advances in massively parallel sequencing (MPS), more than half of DSD cases have an unknown genetic aetiology. We recruited and analysed 21 individuals with 46,...

Firman P. Idris, T. Tayeb, G. Robevska et al. · Human Molecular Genetics · 0 citations

Review Open access Jul 2026

Safeguarding the development of offspring: the role of genetic integrity of the maternal germline.

The role of maternal effect genes (MEGs) in orchestrating early zygotic development is explored, detailing their functions in epigenetic regulation, mitochondrial dynamics, DNA repair, and cell division, and the first comprehensive catalogue of associated diseases is presented.

Xuebi Cai, K. Hutt, Amy L. Winship et al. · Endocrine reviews · 0 citations