Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing

Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

(2014) Atteeq U. Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Papillary thyroid cancer in a patient with interstitial 6q25 deletion includingARID1B

(2014) Jaime Vengoechea et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Females with de novo aberrations inPHF6: Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome

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

Numerous BAF complex genes are mutated in Coffin-Siris syndrome

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

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 role of BAF (mSWI/SNF) complexes in mammalian neural development

(2014) Esther Y. Son 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

SWI/SNF chromatin remodeling complexes and cancer

(2014) Jaclyn A. Biegel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Distinct phenotype of PHF6 deletions in females

(2014) N. Di Donato et al.   European Journal of Medical Genetics

TBC1D24Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss

(2014) Hela Azaiez et al.   HUMAN MUTATION

A Dominant Mutation in the Stereocilia-Expressing GeneTBC1D24is a Probable Cause for Nonsyndromic Hearing Impairment

(2014) Luping Zhang et al.   HUMAN MUTATION

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

(2014) Céline Helsmoortel et al.   NATURE GENETICS

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

(2014) Joe C H Sim et al.   Orphanet Journal of Rare Diseases

A rationale to target the SWI/SNF complex for cancer therapy

(2014) Anja F. Hohmann et al.   TRENDS IN 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

Chromatin Regulation by BAF170 Controls Cerebral Cortical Size and Thickness

(2013) Tran Cong Tuoc et al.   DEVELOPMENTAL CELL

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

Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy

(2013) Mathieu Milh et al.   HUMAN MUTATION

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

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

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations inPHF6in seven females with a distinct phenotype

(2013) Christiane Zweier et al.   JOURNAL OF MEDICAL GENETICS

TBC1D24truncating mutation resulting in severe neurodegeneration

(2013) Ayse Guven et al.   JOURNAL OF MEDICAL GENETICS

The genetic basis of DOORS syndrome: an exome-sequencing study

(2013) Philippe M Campeau et al.   LANCET NEUROLOGY

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

(2013) Miriam J Smith et al.   NATURE GENETICS

Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy

(2013) Cigall Kadoch et al.   NATURE GENETICS

Exome sequencing to identify de novo mutations in sporadic ALS trios

(2013) Alessandra Chesi et al.   NATURE NEUROSCIENCE

The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory

(2013) Annie Vogel-Ciernia et al.   NATURE NEUROSCIENCE

From neural development to cognition: unexpected roles for chromatin

(2013) Jehnna L. Ronan et al.   NATURE REVIEWS 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

The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

(2012) Samantha A. Schrier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SWI/SNF complex in disorder

(2012) Gijs W.E. Santen et al.   Epigenetics

PHF6 Interacts with the Nucleosome Remodeling and Deacetylation (NuRD) Complex

(2012) Matthew A. M. Todd et al.   JOURNAL OF PROTEOME RESEARCH

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

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

(2011) Alex S Nord et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

(2010) Mark A. Corbett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome

(2010) Reinhard Schneppenheim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

(2010) Antonio Falace et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The role of SMARCB1/INI1 in the development of rhabdoid tumors

(2010) Charles Roberts et al.   CANCER BIOLOGY & THERAPY

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

SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution

(2010) Yann Loe-Mie et al.   HUMAN MOLECULAR GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Nicolaides-Baraitser syndrome: Delineation of the phenotype

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

Understanding the Words of Chromatin Regulation

(2009) Jiang I. Wu et al.   CELL

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

(2009) C Boyd et al.   CLINICAL GENETICS

Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia

(2009) Minori Koga et al.   HUMAN MOLECULAR GENETICS

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

(2009) Costanza Bacci et al.   NEUROGENETICS

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