Stylianos Antonarakis
Affiliations: | Pediatrics | Johns Hopkins University School of Medicine, Baltimore, MD, United States |
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"Stylianos Antonarakis"Children
Sign in to add trainee| Ximena Bonilla | grad student | 2011-2016 | University of Geneva Medical School |
| Gregg L. Semenza | post-doc | 1986-1989 | Johns Hopkins Medical School |
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Publications
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| Rao AR, Nazir A, Imtiaz S, et al. (2023) Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees. Genes. 14 |
| Ma C, Chen N, Jolly A, et al. (2022) Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Chen N, Zhao S, Jolly A, et al. (2021) Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American Journal of Human Genetics |
| Chen N, Zhao S, Jolly A, et al. (2021) Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American Journal of Human Genetics |
| Nikolaev SI, Vetiska S, Bonilla X, et al. (2018) Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. The New England Journal of Medicine |
| Bonilla X, Parmentier L, King B, et al. (2016) Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma. Nature Genetics. 48: 398-406 |
| Letourneau A, Santoni FA, Bonilla X, et al. (2015) Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome. Nature |
| Calvel P, Kusz-Zamelczyk K, Makrythanasis P, et al. (2015) A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation |
| Calvel P, Kusz-Zamelczyk K, Makrythanasis P, et al. (2015) A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation |
| Sailani MR, Santoni FA, Letourneau A, et al. (2015) DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins. Plos One. 10: e0135555 |