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Dmitriy Niyazov

Associate Professor of Pediatrics
Pediatrics, Medical Genetics
Office hours Mon-Fri 8-5  

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 Cite

Biallelic 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 Cite

Bi-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 Cite
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Education, Training & Certifications


University of Rochester, School of Medicine and Dentistry · 2001 M.D.
University of California, Los Angeles · 1996 B.S.