Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Interstitial 6q25 microdeletion syndrome:ARID1Bis the key gene

(2016) Luisa Ronzoni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SETD5loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression

(2016) Krzysztof Szczałuba et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2016) I. Parenti et al.   CLINICAL GENETICS

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

(2015) I. Parenti et al.   CLINICAL GENETICS

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

(2015) Nuria C. Bramswig et al.   HUMAN GENETICS

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

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

(2015) Kosuke Izumi et al.   NATURE GENETICS

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

(2014) Detelina Grozeva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

(2014) Alma Kuechler et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

(2014) Diana Braunholz et al.   HUMAN MUTATION

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

The Scc2–Scc4 complex acts in sister chromatid cohesion and transcriptional regulation by maintaining nucleosome-free regions

(2014) Lidia Lopez-Serra et al.   NATURE 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

Exome sequencing identifies a novelEP300frame shift mutation in a patient with features that overlap cornelia de lange syndrome

(2013) Susan A. Woods et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cohesin: Functions beyond sister chromatid cohesion

(2013) Gunjan D. Mehta et al.   FEBS LETTERS

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

(2013) Dagmar Wieczorek et al.   HUMAN MOLECULAR GENETICS

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

(2012) Wendy D. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RAD21 Mutations Cause a Human Cohesinopathy

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

Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region

(2012) Marina Michelson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2012) Matthew A. Deardorff et al.   NATURE

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

(2011) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations and variants in the cohesion factor genesNIPBL,SMC1A, andSMC3in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

(2010) Juan Pié et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) Heng Li et al.   BIOINFORMATICS

Structure and function of SWI/SNF chromatin remodeling complexes and mechanistic implications for transcription

(2010) Liling Tang et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome

(2009) Paola Castronovo et al.   CHROMOSOME RESEARCH

Cornelia de Lange syndrome, cohesin, and beyond

(2009) J Liu et al.   CLINICAL GENETICS

Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

(2008) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS