Matthew A. Deardorff
University of Southern California(US)Children's Hospital of Philadelphia(US)Children's Hospital of Los Angeles(US)Keck Hospital of USC(US)University of Pennsylvania(US)
Publications by Year
Research Areas
Genomics and Chromatin Dynamics, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetic Syndromes and Imprinting, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome(2011)880 cited
- → A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
- → Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation(2007)521 cited
- → Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis(2010)501 cited
- → Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement(2018)363 cited
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited