Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
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- Authors
- Tsurusaki, Yoshinori; Okamoto, Nobuhiko; Ohashi, Hirofumi; Kosho, Tomoki; Imai, Yoko; Hibi-Ko, Yumiko; Kaname, Tadashi; Naritomi, Kenji; Kawame, Hiroshi; Wakui, Keiko; Fukushima, Yoshimitsu; Homma, Tomomi; Kato, Mitsuhiro; Hiraki, Yoko; Yamagata, Takanori; Yano, Shoji; Mizuno, Seiji; Sakazume, Satoru; Ishii, Takuma; Nagai, Toshiro; Shiina, Masaaki; Ogata, Kazuhiro; Ohta, Tohru; Niikawa, Norio; Miyatake, Satoko; Okada, Ippei; Mizuguchi, Takeshi; Doi, Hiroshi; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi
- Year
- 2012
- Journal
- Nature genetics
- PMID
- 22426308
- DOI
- 10.1038/ng.2219
By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B.
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| Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome. | Kalmbach A et al. | β | 2019 | β |
| Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4. | Gao F et al. | β | 2019 | β |
| Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome. | Aguilera C et al. | β | 2019 | β |
| Individual components of the SWI/SNF chromatin remodelling complex have distinct roles in memory neurons of the <i>Drosophila</i> mushroom body. | Chubak MC et al. | β | 2019 | β |
| Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome. | Melo Gomes S et al. | β | 2019 | β |
| Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects. | Filatova A et al. | β | 2019 | β |
| New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. | Chater-Diehl E et al. | β | 2019 | β |
| Nucleosome dynamics of human iPSC during neural differentiation. | Harwood JC et al. | β | 2019 | β |
| Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling. | Valencia AM et al. | β | 2019 | β |
| Remodeling the cancer epigenome: mutations in the SWI/SNF complex offer new therapeutic opportunities. | Orlando KA et al. | β | 2019 | β |
| The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. | van der Sluijs PJ et al. | β | 2019 | β |
| The ATPase BRG1/SMARCA4Β is a protein interaction platform that recruits BAF subunits and the transcriptional repressor REST/NRSF in neural progenitor cells. | Jayaprakash S et al. | β | 2019 | β |
| The BAF complex in development and disease. | Alfert A et al. | β | 2019 | β |
| The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior. | Moffat JJ et al. | β | 2019 | β |
| Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with <i>ARID1</i> germline mutation. | Tchanque-Fossuo CN et al. | β | 2019 | β |
| Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation. | Okamoto N et al. | β | 2018 | β |
| Deleting HDAC3 rescues long-term memory impairments induced by disruption of the neuron-specific chromatin remodeling subunit BAF53b. | Shu G et al. | β | 2018 | β |
| Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma. | Paganini I et al. | β | 2018 | β |
| Epigenetic regulation in medulloblastoma. | Yi J et al. | β | 2018 | β |
| First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations. | Mannino EA et al. | β | 2018 | β |
| Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis. | Holsten T et al. | β | 2018 | β |
| High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. | Diets IJ et al. | β | 2018 | β |
| <i>De novo</i> Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis. | Alonso-Gonzalez A et al. | β | 2018 | β |
| Mechanistic Insights Into MicroRNA-Induced Neuronal Reprogramming of Human Adult Fibroblasts. | Lu YL et al. | β | 2018 | β |
| Modulating the Expression Strength of the Baculovirus/Insect Cell Expression System: A Toolbox Applied to the Human Tumor Suppressor SMARCB1/SNF5. | Golas MM et al. | β | 2018 | β |
| Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. | BΓΆgershausen N et al. | β | 2018 | β |
| Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. | Vasileiou G et al. | β | 2018 | β |
| Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers. | Moccia A et al. | β | 2018 | β |
| New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome. | Yano S et al. | β | 2018 | β |
| Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis. | Khan U et al. | β | 2018 | β |
| Regulation of ATM and ATR by SMARCAL1 and BRG1. | Sethy R et al. | β | 2018 | β |
| Regulation of chromatin states and gene expression during HSN neuronal maturation is mediated by EOR-1/PLZF, MAU-2/cohesin loader, and SWI/SNF complex. | Shinkai Y et al. | β | 2018 | β |
| Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes. | Halgren C et al. | β | 2018 | β |
| SoxC transcription factors: multifunctional regulators of neurodevelopment. | Kavyanifar A et al. | β | 2018 | β |
| The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. | Sweeney NM et al. | β | 2018 | β |
| The role of ISWI chromatin remodeling complexes in brain development and neurodevelopmental disorders. | Goodwin LR et al. | β | 2018 | β |
| Whole exome sequencing of ENU-induced thrombosis modifier mutations in the mouse. | Tomberg K et al. | β | 2018 | β |
| ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. | Miyatake S et al. | β | 2017 | β |
| Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior. | Jung EM et al. | β | 2017 | β |
| Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome. | Foulkes WD et al. | β | 2017 | β |
| Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability. | Mayo S et al. | β | 2017 | β |
| Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders. | Sokpor G et al. | β | 2017 | β |
| Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. | Van Paemel R et al. | β | 2017 | β |
| Dynamics of BAF-Polycomb complex opposition on heterochromatin in normal and oncogenic states. | Kadoch C et al. | β | 2017 | β |
| Dysregulation of chromatin remodelling complexes in amyotrophic lateral sclerosis. | Tibshirani M et al. | β | 2017 | β |
| Epigenetic Mistakes in Neurodevelopmental Disorders. | Mastrototaro G et al. | β | 2017 | β |
| Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. | Bramswig NC et al. | β | 2017 | β |
| Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. | Marom R et al. | β | 2017 | β |
| <i>Arid1b</i> haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment. | Celen C et al. | β | 2017 | β |
| Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features. | Bidart M et al. | β | 2017 | β |
| Mutation of neuron-specific chromatin remodeling subunit BAF53b: rescue of plasticity and memory by manipulating actin remodeling. | Vogel Ciernia A et al. | β | 2017 | β |
| Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. | Parenti I et al. | β | 2017 | β |
| Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. | Acuna-Hidalgo R et al. | β | 2017 | β |
| Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. | Lim ET et al. | β | 2017 | β |
| Recruitment by the Repressor Freud-1 of Histone Deacetylase-Brg1 Chromatin Remodeling Complexes to Strengthen HTR1A Gene Repression. | Souslova T et al. | β | 2017 | β |
| Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses. | Bourchany A et al. | β | 2017 | β |
| SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. | Errichiello E et al. | β | 2017 | β |
| SMARCB1 is required for widespread BAF complex-mediated activation of enhancers and bivalent promoters. | Nakayama RT et al. | β | 2017 | β |
| The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases. | Witkowski L et al. | β | 2017 | β |
| The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. | Zweier M et al. | β | 2017 | β |
| The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. | Kehrer-Sawatzki H et al. | β | 2017 | β |
| The SWI/SNF subunit Bcl7a contributes to motor coordination and Purkinje cell function. | Wischhof L et al. | β | 2017 | β |
| Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development. | Vitte J et al. | β | 2017 | β |
| UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome. | Shpargel KB et al. | β | 2017 | β |
| Variation in SWI/SNF Chromatin Remodeling Complex Proteins is Associated with Alcohol Dependence and Antisocial Behavior in Human Populations. | Mathies LD et al. | β | 2017 | β |
| Very early onset inflammatory bowel disease. | Moran CJ | β | 2017 | β |
| A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening. | Gerkes EH et al. | β | 2016 | β |
| Akirin2 is essential for the formation of the cerebral cortex. | Bosch PJ et al. | β | 2016 | β |
| An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability. | Labonne JD et al. | β | 2016 | β |
| ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. | Mignot C et al. | β | 2016 | β |
| A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment. | Zaghlool A et al. | β | 2016 | β |
| Autism-Associated Chromatin Regulator Brg1/SmarcA4 Is Required for Synapse Development and Myocyte Enhancer Factor 2-Mediated Synapse Remodeling. | Zhang Z et al. | β | 2016 | β |
| Chromatin deregulation in disease. | Mirabella AC et al. | β | 2016 | β |
| Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. | Miyake N et al. | β | 2016 | β |
| Coffin-Siris syndrome with cafΓ©-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. | Sonmez FM et al. | β | 2016 | β |
| Composition and Function of Mammalian SWI/SNF Chromatin Remodeling Complexes in Human Disease. | Pulice JL et al. | β | 2016 | β |
| Deep Genetic Connection Between Cancer and Developmental Disorders. | Qi H et al. | β | 2016 | β |
| De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. | Weiss K et al. | β | 2016 | β |
| De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. | Kanemasa H et al. | β | 2016 | β |
| Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes. | Izumi K | β | 2016 | β |
| Essential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal Neurons. | Ka M et al. | β | 2016 | β |
| Gene of the month: SMARCB1. | Kalimuthu SN et al. | β | 2016 | β |
| Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation. | Takenouchi T et al. | β | 2016 | β |
| MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature. | Wit JM et al. | β | 2016 | β |
| Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. | Ge X et al. | β | 2016 | β |
| Polycomb and trithorax opposition in development and disease. | Poynter ST et al. | β | 2016 | β |
| SMARCA4-Mutated Atypical Teratoid/Rhabdoid Tumor with Retained BRG1 Expression. | Masliah-Planchon J et al. | β | 2016 | β |
| SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. | Zarate YA et al. | β | 2016 | β |
| SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements. | Uehara DT et al. | β | 2016 | β |
| The developmental and pathogenic roles of BAF57, a special subunit of the BAF chromatin-remodeling complex. | LomelΓ H et al. | β | 2016 | β |
| The importance of de novo mutations for pediatric neurological disease--It is not all in utero or birth trauma. | Erickson RP | β | 2016 | β |
| The Many Roles of BAF (mSWI/SNF) and PBAF Complexes in Cancer. | Hodges C et al. | β | 2016 | β |
| The Rise and Rise of Exome Sequencing. | Ku CS et al. | β | 2016 | β |
| The SWI/SNF BAF-A complex is essential for neural crest development. | Chandler RL et al. | β | 2016 | β |
| The SWI/SNF chromatin remodeling complex exerts both negative and positive control over LET-23/EGFR-dependent vulval induction in Caenorhabditis elegans. | Flibotte S et al. | β | 2016 | β |
| A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations. | CΓ³rdova-Fletes C et al. | β | 2015 | β |
| ARID1B-mediated disorders: Mutations and possible mechanisms. | Sim JC et al. | β | 2015 | β |
| Association analysis identifies new risk loci for congenital heart disease in Chinese populations. | Lin Y et al. | β | 2015 | β |
| Biology and Treatment of Rhabdoid Tumor. | Geller JI et al. | β | 2015 | β |
| Camk2a-Cre-mediated conditional deletion of chromatin remodeler Brg1 causes perinatal hydrocephalus. | Cao M et al. | β | 2015 | β |
| Chromatin-Remodeling-Factor ARID1B Represses Wnt/Ξ²-Catenin Signaling. | Vasileiou G et al. | β | 2015 | β |
| Clinicopathological significance of ARID1B in breast invasive ductal carcinoma. | Shao F et al. | β | 2015 | β |
| Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. | Mari F et al. | β | 2015 | β |
| Epigenetics of the failing heart. | MarΓn-GarcΓa J et al. | β | 2015 | β |
| Evf2 lncRNA/BRG1/DLX1 interactions reveal RNA-dependent inhibition of chromatin remodeling. | Cajigas I et al. | β | 2015 | β |
| Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. | Bramswig NC et al. | β | 2015 | β |
| Genetic Determinants of Epigenetic Patterns: Providing Insight into Disease. | Cazaly E et al. | β | 2015 | β |
| Germline and somatic mutations in meningiomas. | Smith MJ | β | 2015 | β |
| Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. | Yuan B et al. | β | 2015 | β |
| HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells. | Letourneau A et al. | β | 2015 | β |
| Identifying communities from multiplex biological networks. | Didier G et al. | β | 2015 | β |
| Intellectual Disability: When the Hypertrichosis Is a Clue. | Pezzani L et al. | β | 2015 | β |
| Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics. | Kadoch C et al. | β | 2015 | β |
| Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features. | Kuroda Y et al. | β | 2015 | β |
| miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6. | Franzoni E et al. | β | 2015 | β |
| Mutations in ARID2 are associated with intellectual disabilities. | Shang L et al. | β | 2015 | β |
| Neuroepigenomics: Resources, Obstacles, and Opportunities. | Satterlee JS et al. | β | 2015 | β |
| Next-generation diagnostics: gene panel, exome, or whole genome? | Sun Y et al. | β | 2015 | β |
| Non-targeted metabolomics of <i>Brg1/Brm</i> double-mutant cardiomyocytes reveals a novel role for SWI/SNF complexes in metabolic homeostasis. | Banerjee R et al. | β | 2015 | β |
| Ongoing challenges in the treatment of adenoid cystic carcinoma of the head and neck. | Subramaniam T et al. | β | 2015 | β |
| Pan-cancer network analysis identifies combinations of rare somatic mutations across pathways and protein complexes. | Leiserson MD et al. | β | 2015 | β |
| PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein. | Todd MA et al. | β | 2015 | β |
| Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. | Gossai N et al. | β | 2015 | β |
| Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders. | LΓ³pez AJ et al. | β | 2015 | β |
| SMARCE1 mutations in pediatric clear cell meningioma: case report. | Evans LT et al. | β | 2015 | β |
| SWI/SNF chromatin remodeling and human malignancies. | Masliah-Planchon J et al. | β | 2015 | β |
| The discovery of integrated gene networks for autism and related disorders. | Hormozdiari F et al. | β | 2015 | β |
| Very early-onset inflammatory bowel disease: gaining insight through focused discovery. | Moran CJ et al. | β | 2015 | β |
| A rationale to target the SWI/SNF complex for cancer therapy. | Hohmann AF et al. | β | 2014 | β |
| A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. | Helsmoortel C et al. | β | 2014 | β |
| Chromatin regulators in neurodevelopment and disease: Analysis of fly neural circuits provides insights: Networks of chromatin regulators and transcription factors underlie Drosophila neurogenesis and cognitive defects in intellectual disability and neuropsychiatric disorder models. | Taniguchi H et al. | β | 2014 | β |
| Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. | Vergano SS et al. | β | 2014 | β |
| Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. | Kosho T et al. | β | 2014 | β |
| Coffin-Siris syndrome is a SWI/SNF complex disorder. | Tsurusaki Y et al. | β | 2014 | β |
| Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. | Tzeng M et al. | β | 2014 | β |
| Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. | Vals MA et al. | β | 2014 | β |
| De novo SOX11 mutations cause Coffin-Siris syndrome. | Tsurusaki Y et al. | β | 2014 | β |
| De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. | Xia F et al. | β | 2014 | β |
| Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay. | Malli T et al. | β | 2014 | β |
| Diverse epigenetic mechanisms of human disease. | Brookes E et al. | β | 2014 | β |
| DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | Campeau PM et al. | β | 2014 | β |
| Drosophila models of early onset cognitive disorders and their clinical applications. | van der Voet M et al. | β | 2014 | β |
| Epigenetic mechanisms in epilepsy. | Kobow K et al. | β | 2014 | β |
| Exome sequencing greatly expedites the progressive research of Mendelian diseases. | Zhang X | β | 2014 | β |
| Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer. | Cajuso T et al. | β | 2014 | β |
| Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. | Sim JC et al. | β | 2014 | β |
| Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). | Kordes U et al. | β | 2014 | β |
| Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. | Zweier C et al. | β | 2014 | β |
| Genetic architecture of cognitive traits. | Le Hellard S et al. | β | 2014 | β |
| Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. | Kosho T et al. | β | 2014 | β |
| High frequency strand slippage mutations in CTCF in MSI-positive endometrial cancers. | Zighelboim I et al. | β | 2014 | β |
| Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature. | Narumi Y et al. | β | 2014 | β |
| Identification of genes for childhood heritable diseases. | Boycott KM et al. | β | 2014 | β |
| Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states. | Fahrner JA et al. | β | 2014 | β |
| Minireview: Conversing with chromatin: the language of nuclear receptors. | Biddie SC et al. | β | 2014 | β |
| Neuron-specific chromatin remodeling: a missing link in epigenetic mechanisms underlying synaptic plasticity, memory, and intellectual disability disorders. | Vogel-Ciernia A et al. | β | 2014 | β |
| Numerous BAF complex genes are mutated in Coffin-Siris syndrome. | Miyake N et al. | β | 2014 | β |
| Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B. | Vengoechea J et al. | β | 2014 | β |
| Phenotype and genotype in Nicolaides-Baraitser syndrome. | Sousa SB et al. | β | 2014 | β |
| Prioritizing protein complexes implicated in human diseases by network optimization. | Chen Y et al. | β | 2014 | β |
| Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. | Au PY et al. | β | 2014 | β |
| SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. | Hasselblatt M et al. | β | 2014 | β |
| SWI/SNF chromatin-remodeling complexes in cardiovascular development and disease. | Bevilacqua A et al. | β | 2014 | β |
| SWI/SNF factors required for cellular resistance to DNA damage include ARID1A and ARID1B and show interdependent protein stability. | Watanabe R et al. | β | 2014 | β |
| The ARID1B phenotype: what we have learned so far. | Santen GW et al. | β | 2014 | β |
| The genetics of cognitive epigenetics. | Kleefstra T et al. | β | 2014 | β |
| The promise of whole-exome sequencing in medical genetics. | Rabbani B et al. | β | 2014 | β |
| The role of BAF (mSWI/SNF) complexes in mammalian neural development. | Son EY et al. | β | 2014 | β |
| The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors. | Patel ZH et al. | β | 2014 | β |
| The SWI/SNF genetic blockade: effects in cell differentiation, cancer and developmental diseases. | Romero OA et al. | β | 2014 | β |
| The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. | Vandeweyer G et al. | β | 2014 | β |
| 190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly. | Coutton C et al. | β | 2013 | β |
| A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. | Wieczorek D et al. | β | 2013 | β |
| An ENU mutagenesis screen identifies novel and known genes involved in epigenetic processes in the mouse. | Daxinger L et al. | β | 2013 | β |
| A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. | Zweier C et al. | β | 2013 | β |
| A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. | Ku CS et al. | β | 2013 | β |
| CHD7 in charge of neurogenesis. | Kim KH et al. | β | 2013 | β |
| Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. | Kosho T et al. | β | 2013 | β |
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders. | Yang Y et al. | β | 2013 | β |
| Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. | Santen GW et al. | β | 2013 | β |
| Creating a neural specific chromatin landscape by npBAF and nBAF complexes. | Staahl BT et al. | β | 2013 | β |
| De novo mutations in the genome organizer CTCF cause intellectual disability. | Gregor A et al. | β | 2013 | β |
| Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins. | Li J et al. | β | 2013 | β |
| Exome sequencing to identify de novo mutations in sporadic ALS trios. | Chesi A et al. | β | 2013 | β |
| From neural development to cognition: unexpected roles for chromatin. | Ronan JL et al. | β | 2013 | β |
| GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. | Willemsen MH et al. | β | 2013 | β |
| Genetic syndromes caused by mutations in epigenetic genes. | Berdasco M et al. | β | 2013 | β |
| Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. | Brastianos PK et al. | β | 2013 | β |
| Heart defects and other features of the 22q11 distal deletion syndrome. | Fagerberg CR et al. | β | 2013 | β |
| Inactivating mutations in SWI/SNF chromatin remodeling genes in human cancer. | Oike T et al. | β | 2013 | β |
| Kinetic analysis of npBAF to nBAF switching reveals exchange of SS18 with CREST and integration with neural developmental pathways. | Staahl BT et al. | β | 2013 | β |
| Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas. | Smith MJ et al. | β | 2013 | β |
| Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. | Nakajima M et al. | β | 2013 | β |
| Our fragile intellect. Part I. | Crabtree GR | β | 2013 | β |
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| Rare-disease genetics in the era of next-generation sequencing: discovery to translation. | Boycott KM et al. | β | 2013 | β |
| Reprogramming human fibroblasts to neurons by recapitulating an essential microRNA-chromatin switch. | Tang J et al. | β | 2013 | β |
| Rethinking our intellectual origins: response to Kalinka et al. | Crabtree GR | β | 2013 | β |
| The continuing challenge of understanding, preventing, and treating neural tube defects. | Wallingford JB et al. | β | 2013 | β |
| The mutational landscape of adenoid cystic carcinoma. | Ho AS et al. | β | 2013 | β |
| The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory. | Vogel-Ciernia A et al. | β | 2013 | β |
| The spectrum of SWI/SNF mutations, ubiquitous in human cancers. | Shain AH et al. | β | 2013 | β |
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