Matthew A. Deardorff

A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome

Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer et al. · New England Journal of Medicine · 2011 · 872 citations · Full text

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 669 citations · Full text

Developmental Biology, Two-hit Model, Genetics +8

Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger et al. · The American Journal of Human Genetics · 2007 · 518 citations · Full text

Developmental Anomaly, Smc1a Cause, Mendelian Disorder +11

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Laura K. Conlin, Brian Thiel, Carsten G. Bönnemann et al. · Human Molecular Genetics · 2010 · 496 citations · Full text

Cytogenetics, Genetics, Human Polymorphism +23

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8