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2024A conserved NR5A1-responsive enhancer regulates SRY in testis-determination., Nat Commun 2024 Mar; 15(1): 2796.
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2023In vitro cellular reprogramming to model gonad development and its disorders., Sci Adv 2023 Jan; 9(1): eabn9793.
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2022Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings., Front Endocrinol (Lausanne) 2022 ; 13(): 810782.
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2021Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings., Sex Dev 2021 Mar; (): 1-6.
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2021Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37., Sex Dev 2021 ; 15(4): 244-252.
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2021Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism., Front Pediatr 2021 ; 9(): 641397.
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2015An ancient protein-DNA interaction underlying metazoan sex determination, Nat. Struct. Mol. Biol. 2015 Jun;22(6):442-51.
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2015Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis, Fertil. Steril. 2015 May;103(5):1297-304.
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2014Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy, Nat. Genet. 2014 Dec;46(12):1283-92.
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2014Consanguinity and disorders of sex development, Hum. Hered. 2014;77(1-4):108-17.
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