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

Somatic mosaicism in a Cornelia de Lange syndrome patient withNIPBLmutation identified by different next generation sequencing approaches

(2014) C. Baquero-Montoya et al.   CLINICAL GENETICS

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

(2014) Agata Minor et al.   GENE

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

Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm

(2014) Philippe Chetaille 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

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

(2013) Linda Mannini et al.   HUMAN MUTATION

Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum

(2013) Qiaoli Li et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

High rate of mosaicism in individuals with Cornelia de Lange syndrome

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

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

RAD21 Mutations Cause a Human Cohesinopathy

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

Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

(2012) Kathryn C. Chatfield et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

(2012) Jolanta Wierzba et al.   BMC Medical Genetics

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

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

(2012) Matthew A. Deardorff et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

(2010) Sarika Rohatgi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Toward the estimation of the absolute quality of individual protein structure models

(2010) Pascal Benkert et al.   BIOINFORMATICS

A positively charged channel within the Smc1/Smc3 hinge required for sister chromatid cohesion

(2010) Alexander Kurze et al.   EMBO JOURNAL

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome

(2009) Angelo Selicorni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cohesin: Its Roles and Mechanisms

(2009) Kim Nasmyth et al.   Annual Review of Genetics

SMC1Aexpression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome

(2009) Jinglan Liu et al.   HUMAN MUTATION

Spectrum and consequences ofSMC1Amutations: The unexpected involvement of a core component of cohesin in human disease

(2009) Linda Mannini et al.   HUMAN MUTATION

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

(2008) Ekaterina Revenkova et al.   HUMAN MOLECULAR GENETICS