Heterozygous truncation mutations of theSMC1Agene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

(2016) Jennifer M. Bain et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum

(2016) S. Jansen et al.   CLINICAL GENETICS

PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity

(2016) Marina Trivisano et al.   EPILEPSY RESEARCH

De novo mutations ofKIAA2022in females cause intellectual disability and intractable epilepsy

(2016) Iris M de Lange et al.   JOURNAL OF MEDICAL GENETICS

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

(2016) Jan Lotte et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation inSMC1A

(2015) Nicolas Lebrun et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel SMC1A frameshift mutations in children with developmental delay and epilepsy

(2015) Jessica H.R. Goldstein et al.   European Journal of Medical Genetics

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

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

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome

(2015) Linda Mannini et al.   Scientific Reports

Epileptic features in Cornelia de Lange syndrome: Case report and literature review

(2014) Elena Pavlidis et al.   BRAIN & DEVELOPMENT

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

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

(2014) Caroline Nava et al.   NATURE GENETICS

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

(2014) G. L. Carvill et al.   NEUROLOGY

Diagnostic Yield of Clinical Next-Generation Sequencing Panels for Epilepsy

(2014) Jason Wang et al.   JAMA Neurology

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

A case of cohesinopathy with a novel de-novo SMC1A splice site mutation

(2013) Jörg Hansen et al.   CLINICAL DYSMORPHOLOGY

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

(2013) Linda Mannini et al.   HUMAN MUTATION

Genes That Escape X-Inactivation in Humans Have High Intraspecific Variability in Expression, Are Associated with Mental Impairment but Are Not Slow Evolving

(2013) Yuchao Zhang et al.   MOLECULAR BIOLOGY AND EVOLUTION

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

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

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

(2012) Stephanie Fehr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Diverse Developmental Disorders from The One Ring: Distinct Molecular Pathways Underlie the Cohesinopathies

(2012) Julia A. Horsfield et al.   Frontiers in Genetics

In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome

(2011) Nicole Hoppman-Chaney et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic spectrum associated with CASK loss-of-function mutations

(2011) U. Moog et al.   JOURNAL OF MEDICAL GENETICS

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A

(2010) Giuseppe Limongelli 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

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

(2010) Christel Depienne et al.   HUMAN MUTATION

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

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

Epilepsy and mental retardation limited to females: an under-recognized disorder

(2008) Ingrid E. Scheffer et al.   BRAIN