Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

(2018) Georgia Vasileiou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

(2018) Caroline F Wright et al.   GENETICS IN MEDICINE

Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT)

(2018) Yasmine Neirijnck et al.   KIDNEY INTERNATIONAL

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

(2017) Nuria C. Bramswig et al.   HUMAN GENETICS

Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice

(2017) Mihiro Shibutani et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type

(2017) Edoardo Errichiello et al.   JOURNAL OF PATHOLOGY

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

Dominant-negative SMARCA4 mutants alter the accessibility landscape of tissue-unrestricted enhancers

(2017) H. Courtney Hodges et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The SWI/SNF chromatin remodelling complex is required for maintenance of lineage specific enhancers

(2017) Burak H. Alver et al.   Nature Communications

Observation of Cleft Palate in an Individual with SOX11 Mutation

(2017) Umair Khan et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Dominant-negative SMARCA4 mutants alter the accessibility landscape of tissue-unrestricted enhancers

(2017) H. Courtney Hodges et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Coffin-Siris syndrome and cardiac anomaly with a novel SOX 11 mutation

(2017) Nobuhiko Okamoto et al.   CONGENITAL ANOMALIES

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases

(2016) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SWI/SNF-directed stem cell lineage specification: dynamic composition regulates specific stages of skeletal myogenesis

(2016) Paula Coutinho Toto et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

(2016) Monkol Lek et al.   NATURE

Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin

(2016) Benjamin Z Stanton et al.   NATURE GENETICS

Dynamics of BAF–Polycomb complex opposition on heterochromatin in normal and oncogenic states

(2016) Cigall Kadoch et al.   NATURE GENETICS

The Many Roles of BAF (mSWI/SNF) and PBAF Complexes in Cancer

(2016) Courtney Hodges et al.   Cold Spring Harbor Perspectives in Medicine

Genome-wide characteristics of de novo mutations in autism

(2016) Ryan KC Yuen et al.   npj Genomic Medicine

Gonadal mosaicism inARID1Bgene causes intellectual disability and dysmorphic features in three siblings

(2015) Salma Ben-Salem et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Report of a patient with a constitutional missense mutation inSMARCB1, Coffin-Siris phenotype, and schwannomatosis

(2015) Nathan Gossai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

(2015) Yongguo Yu et al.   BMC GENOMICS

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

(2015) Francesca Mari et al.   BRAIN & DEVELOPMENT

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

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

(2015) Detelina Grozeva et al.   HUMAN MUTATION

Deletions and de novo mutations ofSOX11are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

(2015) Annmarie Hempel et al.   JOURNAL OF MEDICAL GENETICS

Mutations in ARID2 are associated with intellectual disabilities

(2015) Linshan Shang et al.   NEUROGENETICS

Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics

(2015) C. Kadoch et al.   Science Advances

Coffin-Siris syndrome: Phenotypic evolution of a novelSMARCA4mutation

(2014) Michael Tzeng et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TheARID1Bphenotype: What we have learned so far

(2014) Gijs W.E. Santen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

(2014) Philippe M. Campeau et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Phenotype and genotype in Nicolaides-Baraitser syndrome

(2014) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations inSMARCB1,SMARCA4,SMARCE1, andARID1A

(2014) Tomoki Kosho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The transcriptional regulatorADNPlinks the BAF (SWI/SNF) complexes with autism

(2014) Geert Vandeweyer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL 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

GermlineSMARCE1mutations predispose to both spinal and cranial clear cell meningiomas

(2014) Miriam J Smith et al.   JOURNAL OF PATHOLOGY

Residual Complexes Containing SMARCA2 (BRM) Underlie the Oncogenic Drive of SMARCA4 (BRG1) Mutation

(2014) B. G. Wilson et al.   MOLECULAR AND CELLULAR BIOLOGY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

(2014) Céline Helsmoortel et al.   NATURE GENETICS

De novo SOX11 mutations cause Coffin–Siris syndrome

(2014) Yoshinori Tsurusaki et al.   Nature Communications

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

(2013) Tomoki Kosho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The BAF Complex Interacts with Pax6 in Adult Neural Progenitors to Establish a Neurogenic Cross-Regulatory Transcriptional Network

(2013) Jovica Ninkovic et al.   Cell Stem Cell

Coffin-Siris syndrome is a SWI/SNF complex disorder

(2013) Y. Tsurusaki et al.   CLINICAL GENETICS

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

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

(2013) Gijs W.E. Santen et al.   HUMAN MUTATION

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

(2013) Miriam J Smith et al.   NATURE GENETICS

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

(2012) Tjitske Kleefstra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

(2012) Anne Goriely et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong 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

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

(2012) Jeroen K J Van Houdt et al.   NATURE GENETICS

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

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

(2011) C Halgren et al.   CLINICAL GENETICS

Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri

(2011) Pepijn van den Munckhof et al.   NEUROGENETICS

A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

(2010) L. Backx et al.   CYTOGENETIC AND GENOME RESEARCH

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Nicolaides-Baraitser syndrome: Delineation of the phenotype

(2009) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SWI/SNF Deficiency Results in Aberrant Chromatin Organization, Mitotic Failure, and Diminished Proliferative Capacity

(2009) Ryan J. Bourgo et al.   MOLECULAR BIOLOGY OF THE CELL

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

ES cell pluripotency and germ-layer formation require the SWI/SNF chromatin remodeling component BAF250a

(2008) X. Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA