SimonaBianconiMD

Pediatrics • Bethesda, MD

Physician

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Office
10 Center Dr
Building 10 Room 9d42
Bethesda, MD 20892
Phone+1 301-496-8217

Education & Training

National Institutes of Health Clinical CenterResidency, Medical Genetics and Genomics, 2008 - 2011
New York-Presbyterian Brooklyn Methodist HospitalResidency, Pediatrics, 2003 - 2006
University of Vienna Faculty of MedicineClass of 2003

Certifications & Licensure

CA State Medical License 2019 - 2025
NY State Medical License 2006 - 2020
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Publications & Presentations

PubMed

Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.
Aishwarya Selvaraman, Samar Rahhal, Simona Bianconi, Tristan Furnary, Forbes D Porter
American Journal of Medical Genetics. Part A. 2024-09-13
2 citations
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina
European Journal of Human Genetics. 2024-08-01
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Jennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, Vimla Aggarwal, Simona Bianconi
Molecular Genetics and Metabolism. 2024-05-01