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
Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing.
Journal Article Mol Genet Metab Rep · December 2025 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is a rare autosomal recessive metabolic disease caused by variants in the HMGCL gene leading to an impairment in leucine catabolism and ketone synthesis. In the United States, HMG-CoA lyase deficien ... Full text Open Access Link to item CiteInvestigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Journal Article Nat Commun · November 26, 2025 Neurodevelopmental proteasomopathies are a group of disorders caused by variants in proteasome subunit genes, that disrupt protein homeostasis and brain development through poorly characterized mechanisms. Here, we report 26 distinct variants in PSMC5, enc ... Full text Open Access Link to item CiteTwo Novel Pediatric Cases of EIF4A2-Related Disorder With Refractory Infantile Spasms.
Journal Article Am J Med Genet A · November 4, 2025 With the rapid adoption and increasing use of genetic testing in pediatric neurology, the discovery and characterization of novel pathogenic variants resulting in neurodevelopmental and seizure disorders are becoming more common. One such disorder is EIF4A ... 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.