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Jocelyn van den Bergen

Royal Children's Hospital

35

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Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.

2021 European Journal of Human Genetics
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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

2020 Human Genetics
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Analysis of variants in GATA4 and FOG2 / ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

2020 Molecular Genetics & Genomic Medicine
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STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.

2020 Molecular Human Reproduction
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Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

2019 Nature Communications
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NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients

2019 Human Mutation
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Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice

2018 European Journal of Human Genetics
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A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

2018 International Journal of Pediatric Endocrinology
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Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

2017 Human Genomics
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A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb

2017 Clinical Genetics
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