Current Appointments & Affiliations
Instructor in the Department of Pediatrics
·
2025 - Present
Pediatrics, Medical Genetics,
Pediatrics
Recent Publications
Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework.
Journal Article J Allergy Clin Immunol · May 2025 BACKGROUND: The Clinical Genome Resource (ClinGen) is an international collaborative effort among scientists and clinicians, diagnostic and research laboratories, and the patient community. Using a standardized framework, ClinGen has established guidelines ... Full text Link to item CiteArterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation.
Journal Article CASE (Phila) · January 2025 • ATS can be discovered by high-quality fetal imaging. • Postnatal genetic testing is required for confirmation of the diagnosis. • A homozygous variant in SLC2A10 (c.173 C > T; p.Ala58Val) is newly described. • Multidisciplinary follow-up for children wit ... Full text Link to item CiteOcular manifestations in a 2 year-old patient with a DYNC1H1 mutation.
Journal Article Ophthalmic Genet · December 2023 BACKGROUND: Mutations in the DYNC1H1 gene have been linked to multiple neurologic syndromes with a multitude of clinical manifestations, both ocular and non-ocular. Previous case reports have outlined various ocular phenotypes, including cataracts of conge ... Full text Link to item CiteEducation, Training & Certifications
University of Barcelona (Spain) ·
2024
MR
Hacettepe University (Turkey) ·
2009
M.D.