Overview
I see patients with Mitochondrial and Lysosomal Storage diseases, Developmental delay, Intellectual Disability, Chromosomal disorders, Congenital defects, Short stature, Failure to thrive and Adult genetic disorders. I use telemedicine extensively and apply the rapidly growing genetic knowledge to treat patients with a variety of medical problems which involve complex interaction of genetic and environmental factors, particularly since the Human Genome Project. I am interested in using the massive power of sequencing technology and artificial intelligence/machine learning to predict phenotypes from genotypes with increasing clinical relevance to human health.
Current Appointments & Affiliations
Associate Professor of Pediatrics
·
2024 - Present
Pediatrics, Medical Genetics,
Pediatrics
Recent Publications
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Journal Article Brain Commun · 2025 Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individuals from two famili ... Full text Link to item CiteBiallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Journal Article Genet Med · January 2023 PURPOSE: Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic ... Full text Link to item CiteBi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Journal Article Am J Hum Genet · July 1, 2021 EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded proteins that will be targeted and translocated to the cyt ... Full text Link to item CiteEducation, Training & Certifications
University of Rochester, School of Medicine and Dentistry ·
2001
M.D.
University of California, Los Angeles ·
1996
B.S.