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| 34781289 | Establishing a Molecular Genetic Diagnosis in Children with Differences of Sex Development: A Clinical Approach. | Hormone Research in Paediatrics | 2023 |
| 36349847 | FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination. | Clinical Genetics | 2023 |
| 36282544 | Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome. | Human Molecular Genetics | 2023 |
| 36450801 | LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss. | Eur J Hum Genet | 2023 |
| 37148394 | Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency. | | 2023 |
| 37322043 | Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects. | Nat Commun | 2023 |
| 36868206 | Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. | Am J Hum Genet | 2023 |
| 37296101 | Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects. | Nat Commun | 2023 |
| 36724755 | Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations. | | 2023 |
| 35051551 | Whole exome sequencing reveals copy number variants in individuals with disorders of sex development. | Molecular and Cellular Endocrinology | 2022 |
| 35908231 | Genomic testing in premature ovarian insufficiency: proceed with caution. | Biol Reprod | 2022 |
| 35509483 | Clinical lesson learned from genetic analysis in patients prior to surgical repair of hypospadias. | Asian Journal of Urology | 2022 |
| 35760052 | SOX Genes and Their Role in Disorders of Sex Development. | Sexual Development | 2022 |
| 36074910 | Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights. | J Clin Endocrinol Metab | 2022 |
| 36421788 | Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency. | Genes (Basel) | 2022 |
| 34918413 | Generation and mutational analysis of a transgenic mouse model of human SRY. | Human Mutation | 2022 |
| 34967858 | Stem Cells and Organs-on-chips: New Promising Technologies for Human Infertility Treatment. | Endocrine Reviews | 2022 |
| 35134173 | Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency. | Hum Mol Genet | 2022 |
| 34707299 | Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes. | European Journal of Human Genetics | 2022 |
| 31012339 | Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia. | Journal of Investigative Surgery | 2021 |
| 34634785 | Targeting the Non-Coding Genome for the Diagnosis of Disorders of Sex Development. | Sexual Development | 2021 |
| 34647195 | A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss. | Hum Genet | 2021 |
| 33217324 | An In Vitro Differentiation Protocol for Human Embryonic Bipotential Gonad and Testis Cell Development. | Stem Cell Reports | 2020 |
| 31910233 | The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice. | PLoS ONE | 2020 |
| 31962012 | Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development. | Mol Genet Genomic Med | 2020 |
| 31787151 | Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility. | | 2020 |
| 32399598 | 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). | Hum Genet | 2020 |
| 33036707 | New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing. | | 2020 |
| 32634216 | STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia. | Molecular Human Reproduction | 2020 |
| 31337757 | Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. | Nature Communications | 2019 |
| 30504698 | Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches. | Sexual Development | 2019 |
| 30350900 | NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients. | Human Mutation | 2019 |
| 31271757 | Australian Genomics: A Federated Model for Integrating Genomics into Healthcare. | Am J Hum Genet | 2019 |
| 31167797 | Familial bilateral cryptorchidism is caused by recessive variants in . | Journal of Medical Genetics | 2019 |
| 31018998 | Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development. | Journal of Medical Genetics | 2019 |
| 30963139 | Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias. | Journal of the Endocrine Society | 2019 |
| 29145200 | The Role of Copy Number Variants in Disorders of Sex Development. | Sexual Development | 2018 |
| 29027299 | Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development. | Human Mutation | 2018 |
| 30552336 | Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. | Nature Communications | 2018 |
| 30067986 | Retinoic Acid Antagonizes Testis Development in Mice. | Cell Reports | 2018 |
| 30067310 | Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer. | Human Mutation | 2018 |
| 29670578 | GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes. | Frontiers in Endocrinology | 2018 |
| 29350886 | The cell biology and molecular genetics of Müllerian duct development. | Wiley Interdisciplinary Reviews: Developmental Biology | 2018 |
| 29706645 | Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice. | European Journal of Human Genetics | 2018 |
| 29507583 | A novel, homozygous mutation in () in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report. | International Journal of Pediatric Endocrinology | 2018 |
| 28209183 | Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys. | Human Genomics | 2017 |
| 28670874 | Corrigendum: Corrigendum for: Disorders of sex development: The evolving role of genomics in diagnosis and gene discovery, 108:337-350 (10.1002/bdrc.21148). | Birth Defects Research | 2017 |
| 28620497 | Painful ovulation in a 46,XX SRY -ve adult male with duplication. | Endocrinology, Diabetes and Metabolism Case Reports | 2017 |
| 28317102 | A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb. | Clinical Genetics | 2017 |
| 29053721 | XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris). | PLoS ONE | 2017 |