Kenneth McElreavy

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

Kenneth McElreavy, Éric Vilain, N. Abbas et al. · Proceedings of the National Academy of Sciences · 1992 · 183 citations

Spermatogenesis, Cytogenetics, Human Sex Determination +26

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

Sylvie Jaillard, Katrina M. Bell, Linda Akloul et al. · Maturitas · 2020 · 62 citations

Infertility, Candidate Genes, Premature Ovarian Insufficiency +11

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

Sylvie Jaillard, Kenneth McElreavy, Gorjana Robevska et al. · Molecular Human Reproduction · 2020 · 57 citations · Full text

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency

Efterpi Pavlidou, Vincenzo Salpietro, Rahul Phadke et al. · European Journal of Paediatric Neurology · 2016 · 53 citations

Ocular Disease, Ophthalmology, Neurological Disorder +10

A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation

Remko Hersmus, Yvonne G. van der Zwan, Hans Stoop et al. · PLoS ONE · 2012 · 42 citations · Full text

Developmental Biology, Somatic Variant, Mendelian Disorder +13