Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

(2017) Daphné Lehalle et al.   JOURNAL OF MEDICAL GENETICS

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification of novel candidate disease genes from de novo exonic copy number variants

(2017) Tomasz Gambin et al.   Genome Medicine

Familial STAG2 germline mutation defines a new human cohesinopathy

(2017) Fernanda C. Soardi et al.   npj Genomic Medicine

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

(2015) Jason A. O’Rawe et al.   AMERICAN JOURNAL OF HUMAN 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

Novel SMC1A frameshift mutations in children with developmental delay and epilepsy

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

IncreasedSTAG2dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

(2015) Raman Kumar et al.   HUMAN MOLECULAR GENETICS

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

The Mediator complex: a central integrator of transcription

(2015) Benjamin L. Allen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

Cohesin-mediated interactions organize chromosomal domain architecture

(2013) Sevil Sofueva et al.   EMBO JOURNAL

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

(2013) Linda Mannini et al.   HUMAN MUTATION

Frequent truncating mutations of STAG2 in bladder cancer

(2013) David A Solomon et al.   NATURE 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

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

(2012) Davut Pehlivan et al.   GENETICS IN MEDICINE

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

(2012) Matthew A. Deardorff et al.   NATURE

Polycomb purification by in vivo biotinylation tagging reveals cohesin and Trithorax group proteins as interaction partners

(2011) G. Strubbe et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutational Inactivation of STAG2 Causes Aneuploidy in Human Cancer

(2011) D. A. Solomon et al.   SCIENCE

Mediator and cohesin connect gene expression and chromatin architecture

(2010) Michael H. Kagey et al.   NATURE

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

CTCF physically links cohesin to chromatin

(2008) E. D. Rubio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA