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

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

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

(2015) H Hu et al.   MOLECULAR PSYCHIATRY

Cornelia de Lange syndrome

(2014) M.I. Boyle et al.   CLINICAL GENETICS

Overall and allele-specific expression of theSMC1Agene in female Cornelia de Lange syndrome patients and healthy controls

(2014) Ilaria Parenti et al.   Epigenetics

Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation

(2014) Allison M. Cotton et al.   HUMAN MOLECULAR 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

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli 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

Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network

(2013) Suleyman Gulsuner et al.   CELL

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

(2013) Jörg Hansen et al.   CLINICAL DYSMORPHOLOGY

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

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

(2012) Anita Rauch et al.   LANCET

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

(2012) Bin Xu et al.   NATURE GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Cornelia de Lange syndrome, cohesin, and beyond

(2009) J Liu et al.   CLINICAL GENETICS

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

(2009) Jinglan Liu et al.   HUMAN MUTATION