Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

(2014) Frank J. Kaiser et al.   HUMAN MOLECULAR GENETICS

Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

(2013) Linda Mannini et al.   HUMAN MUTATION

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

(2012) Matthew A. Deardorff et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Small deletions within theRHDcoding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms

(2012) Jian-Min Chen et al.   TRANSFUSION

Coats' Disease, Megalopapilla and Cornelia De Lange Syndrome

(2009) Mark R. Barakat et al.   OPHTHALMIC GENETICS