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Showing 1–6 of 6 results

Advanced filters: Author: Gorjana Robevska Clear advanced filters

Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Brittany Croft
Thomas Ohnesorg
Andrew Sinclair
Amendments and CorrectionsOpen Access23 Jul 2019
Nature Communications

Volume: 10, P: 1
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Katie L. Ayers
Stefanie Eggers
Andrew H. Sinclair
Amendments and CorrectionsOpen Access15 Jun 2023
Nature Communications

Volume: 14, P: 1
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

The SART3 gene encodes an RNA-binding protein critical for spliceosome function. Here, the authors find that bi-allelic variants in SART3 underlie a congenital condition characterised by neuro-developmental defects and 46,XY gonadal dysgenesis.

Katie L. Ayers
Stefanie Eggers
Andrew H. Sinclair
ResearchOpen Access09 Jun 2023
Nature Communications

Volume: 14, P: 1-21
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

SRY and its target SOX9 are known key determinants in testis development. Here the authors by studying duplications and deletions upstream of SOX9 from patient samples with disorders of sex development (DSD) reveal enhancers for SOX9 critical for human sex development and DSD.

Brittany Croft
Thomas Ohnesorg
Andrew Sinclair
ResearchOpen Access14 Dec 2018
Nature Communications

Volume: 9, P: 1-10
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes

Elena J. Tucker
Katrina M. Bell
Andrew H. Sinclair
Research28 Oct 2021
European Journal of Human Genetics

Volume: 30, P: 219-228
Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice

Elena J. Tucker
Sonia R. Grover
Andrew H. Sinclair
Research30 Apr 2018
European Journal of Human Genetics

Volume: 26, P: 1319-1328