Matthew Deardorff
Director of Translational Genomics, Center for Personalized Medicine · Children's Hospital Los Angeles
Credentials: · · · ·
History
PresentCenter for Personalized Medicine · Children's Hospital Los Angeles
Research
A mosaic activating mutation in AKT1 associated with the Proteus syndrome
New England Journal of Medicine · 2011 · 641 citations
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
Nature · 2012 · First of 42 authors · Corresponding · 485 citations
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Nature Genetics · 2010 · 478 citations
53 papers
34 papers
16 papers
16 papers
16 papers
- LJ
16 papers
14 papers · 6 as a fellow
13 papers · 2 as a resident
Grants
- 2020–2022
Defining Informative Loci to Enable Mechanistic Insight and Treatment of Chromatinopathies
National Institute of Child Health and Human Development · R21
Contact PI · $466.1K · Children's Hospital of Los Angeles
- 2007–2013
The Cohesin Complex and Cornelia de Lange Syndrome
National Institute of Child Health and Human Development · K08
Contact PI · $684.5K · Children's Hosp of Philadelphia