Matthew Deardorff MD
Clinical Genetics, Pediatric Medical Genetics
Director, Personalized Care Program, Children's Hospital Los Angeles. Professor of Pathology and Pediatrics (Clinical Scholar), University of Southern California.
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4650 Sunset Blvd, M/S 43Los Angeles, CA 90027
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Education & Training
Children's Hospital of PhiladelphiaResidency, Pediatrics/Medical Genetics and Genomics, 2001 - 2007
Perelman School of Medicine at the University of PennsylvaniaClass of 2001
Certifications & Licensure
CA State Medical License 2020 - 2026
PA State Medical License 2001 - 2021
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 1 citationsOptical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden.Avinash V Dharmadhikari, Alexander L Markowitz, Jennifer Han, Dolores B Estrine, Dong Xu
Genetics in Medicine. 2025-08-01 - Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome.Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui
Annals of Clinical and Translational Neurology. 2025-05-02 - Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort.Elan Hahn, Avinash V Dharmadhikari, Alexander L Markowitz, Dolores Estrine, Catherine Quindipan
NPJ Genomic Medicine. 2025-02-21
Journal Articles
- De Novo Missense Variants in MEIS2 Recapitulate the Microdeletion Phenotype of Cardiac and Palate Abnormalities, Developmental Delay, Intellectual Disability and Dysmo...Theresa Grebe, Susan Winter, Elaine H Zackai, Angelika L Erwin, Matthew A Deardorff, Margaret Harr, American Journal of Medical Genetics Part A
- Diagnosis and Management of Cornelia De Lange Syndrome: First International Consensus StatementMarco Grados, Antonie D Kline, Matthew A Deardorff, Natalie Blagowidow, Stacey L Ishman, Alex V Levin, Nature
Press Mentions
Copy Number Variant Analysis Improves Diagnostic Yield in a Diverse Pediatric Exome Sequencing CohortMay 2nd, 2025
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