Matthew Deardorff

Matthew Deardorff, MD, PhD serves as Professor of Pediatrics (Clinical Scholar) at the Keck School of Medicine, University of Southern California, with clinical and research appointments at Children's Hospital Los Angeles (CHLA). His work bridges clinical pediatrics and genomic medicine with a focus on constitutional genomic disorders.

Dr. Deardorff's research centers on the genomic basis of neurodevelopmental disorders, particularly Cornelia de Lange syndrome and related cohesinopathies. His lab investigates copy number variant interpretation, genotype-phenotype correlations in diverse populations, and diagnostic yield improvement through novel genomic technologies. Recent work demonstrates expertise in optical genome mapping for constitutional variants and characterization of rare syndromes like KBG and FATCO.

Analysis of his 15 most recent publications reveals strong emphasis on clinical genomic implementation, with 60% of 2023-2025 papers addressing diagnostic methodology improvements. His work consistently incorporates diverse cohort representation and phenotype-driven analysis, particularly examining how ethnic diversity impacts variant interpretation. Key technical contributions include droplet digital PCR for mosaic quantification and phenotypic predictors for RASopathy testing.

Dr. Deardorff participates in major collaborative efforts including the international Cornelia de Lange syndrome consensus statement and NIH-funded genomic medicine initiatives. His leadership appears in multi-center studies focused on standardizing genomic diagnostics and improving variant classification systems.

His clinical work involves directing genomic diagnostics for complex pediatric cases, particularly those with congenital anomalies and neurodevelopmental disorders. The research program maintains active collaborations with the Children's Hospital Los Angeles Center for Genetic Medicine and USC's Institute for Genetic Medicine.