MatthewDeardorffMD
Medical Genetics • Los Angeles, CAClinical 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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Office
4650 Sunset Blvd, M/S 43
Los Angeles, CA 90027
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
- 531 citationsA Mosaic Activating Mutation in AKT1 Associated with the Proteus SyndromeMarjorie J. Lindhurst, Julie C Sapp, Jamie K. Teer, Jennifer J. Johnston, Erin M Finn
The New England Journal of Medicine. 2011-08-18 - 32 citationsP4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.Yaqun Zou, Sandra Donkervoort, Antti M. Salo, A. Reghan Foley, Aileen M. Barnes
Human Molecular Genetics. 2017-06-15 - 64 citationsCharacterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.Kelly A. Duffy, Christopher M. Cielo, Jennifer L. Cohen, Christina X Gonzalez-Gandolfi, Jessica R Griff
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2019-08-30
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
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