Expanding the clinical spectrum of the ‘HDAC8-phenotype’ - implications for molecular diagnostics, counseling and risk prediction

De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

(2015) María Concepción Gil-Rodríguez et al.   HUMAN MUTATION

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

(2015) Bo Yuan et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Jannovar: A Java Library for Exome Annotation

(2014) Marten Jäger et al.   HUMAN MUTATION

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

(2014) Diana Braunholz et al.   HUMAN MUTATION

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

(2014) Lei Feng et al.   JOURNAL OF HUMAN GENETICS

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

(2014) Morad Ansari et al.   JOURNAL OF MEDICAL GENETICS

Cornelia de Lange individuals with new and recurrentSMC1Amutations enhance delineation of mutation repertoire and phenotypic spectrum

(2013) Cristina Gervasini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

High rate of mosaicism in individuals with Cornelia de Lange syndrome

(2013) Sylvia A Huisman et al.   JOURNAL OF MEDICAL GENETICS

RAD21 Mutations Cause a Human Cohesinopathy

(2012) Matthew A. Deardorff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

(2012) T. Kamphans et al.   BIOINFORMATICS

X-exome sequencing identifies aHDAC8variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

(2012) Magdalena Harakalova et al.   JOURNAL OF MEDICAL GENETICS

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

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

(2012) Matthew A. Deardorff et al.   NATURE

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS