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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1001/archpedi.1970.02100050435009openalex-snapshot
Mental Retardation With Absent Fifth Fingernail and Terminal Phalanx
inferredcites →https://doi.org/10.1016/j.ajhg.2010.01.013openalex-snapshot
Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome
inferredcites →https://doi.org/10.1016/s1097-2765(00)00127-1openalex-snapshot
A Brg1 Null Mutation in the Mouse Reveals Functional Differences among Mammalian SWI/SNF Complexes
inferredcites →https://doi.org/10.1038/cr.2011.32openalex-snapshot
ATP-dependent chromatin remodeling: genetics, genomics and mechanisms
inferredcites →https://doi.org/10.1038/nrc3068openalex-snapshot
SWI/SNF nucleosome remodellers and cancer
inferredcites →https://doi.org/10.1038/nrg3031openalex-snapshot
Exome sequencing as a tool for Mendelian disease gene discovery
inferredcites →https://doi.org/10.1073/pnas.240208597openalex-snapshot
The human SWI/SNF-B chromatin-remodeling complex is related to yeast Rsc and localizes at kinetochores of mitotic chromosomes
inferredcites →https://doi.org/10.1086/302833openalex-snapshot
Familial Posterior Fossa Brain Tumors of Infancy Secondary to Germline Mutation of the hSNF5 Gene
inferredcites →https://doi.org/10.1093/emboj/17.23.6979openalex-snapshot
Altered control of cellular proliferation in the absence of mammalian brahma (SNF2α)
inferredcites →https://doi.org/10.1111/j.1399-0004.2008.01060.xopenalex-snapshot
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis
inferredcites →https://doi.org/10.1136/jmg.2007.056499openalex-snapshot
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis
inferredcites →https://doi.org/10.1146/annurev.biochem.77.062706.153223openalex-snapshot
The Biology of Chromatin Remodeling Complexes
inferredcites →https://doi.org/10.1373/49.6.853openalex-snapshot
High-Resolution Genotyping by Amplicon Melting Analysis Using LCGreen
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.4776231openalex-extracted
De Novo Mutations Promote Inflammation in Children with Stat3 Gain-of-Functionsyndrome by Affecting Il-1β Expression
inferred← citeshttps://doi.org/10.1002/1873-3468.12201openalex-snapshot
The developmental and pathogenic roles of BAF57, a special subunit of the BAF chromatin‐remodeling complex
inferred← citeshttps://doi.org/10.1002/9780470015902.a0021427.pub2openalex-snapshot
Molecular Genetics of Schwannomatosis
inferred← citeshttps://doi.org/10.1002/9780470015902.a0026645openalex-snapshot
Molecular Genetics of Meningioma
inferred← citeshttps://doi.org/10.1002/9781118441213.rtd0070openalex-snapshot
Genetic Defects of Nails and Nail Growth
inferred← citeshttps://doi.org/10.1002/9781118524947.ch3openalex-snapshot
The Mutational Spectrum of Neurodevelopmental Disorders
inferred← citeshttps://doi.org/10.1002/ajmg.a.35933openalex-snapshot
Clinical correlations of mutations affecting six components of the SWI / SNF complex: Detailed description of 21 patients and a review of the literature
inferred← citeshttps://doi.org/10.1002/ajmg.a.36320openalex-snapshot
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures
inferred← citeshttps://doi.org/10.1002/ajmg.a.36433openalex-snapshot
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
inferred← citeshttps://doi.org/10.1002/ajmg.a.36515openalex-snapshot
Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B
inferred← citeshttps://doi.org/10.1002/ajmg.a.36533openalex-snapshot
Coffin‐Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation
inferred← citeshttps://doi.org/10.1002/ajmg.a.36738openalex-snapshot
Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay
inferred← citeshttps://doi.org/10.1002/ajmg.a.36813openalex-snapshot
Microdeletion of 19p13.3 in a girl with Peutz–Jeghers syndrome, intellectual disability, hypotonia, and distinctive features
inferred← citeshttps://doi.org/10.1002/ajmg.a.37356openalex-snapshot
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin–Siris phenotype, and schwannomatosis
inferred← citeshttps://doi.org/10.1002/ajmg.a.37722openalex-snapshot
SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases
inferred← citeshttps://doi.org/10.1002/ajmg.a.37778openalex-snapshot
Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.37861openalex-snapshot
Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation
inferred← citeshttps://doi.org/10.1002/ajmg.a.38143openalex-snapshot
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
inferred← citeshttps://doi.org/10.1002/ajmg.a.38407openalex-snapshot
Confirmation of an ARID2 defect in SWI/SNF‐related intellectual disability
inferred← citeshttps://doi.org/10.1002/ajmg.a.40471openalex-snapshot
First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations
inferred← citeshttps://doi.org/10.1002/ajmg.a.61262openalex-snapshot
Expanding the phenotypic spectrum associated with DPF2: A new case report
inferred← citeshttps://doi.org/10.1002/ajmg.a.61823openalex-snapshot
Growth charts for individuals with Coffin‐Siris syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.62187openalex-snapshot
Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.62597openalex-snapshot
Further supporting SMARCC2 ‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients
inferred← citeshttps://doi.org/10.1002/ajmg.a.62889openalex-snapshot
Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia
inferred← citeshttps://doi.org/10.1002/ajmg.a.62919openalex-snapshot
Identifying phenotypic expansions for congenital diaphragmatic hernia plus ( CDH +) using DECIPHER data
inferred← citeshttps://doi.org/10.1002/ajmg.a.62979openalex-snapshot
Epilepsy in Coffin–Siris syndrome: A report from the international CSS registry and review of the literature
inferred← citeshttps://doi.org/10.1002/ajmg.a.63054openalex-snapshot
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
inferred← citeshttps://doi.org/10.1002/ajmg.a.63139openalex-snapshot
ARID2 , a rare cause of Coffin‐Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review
inferred← citeshttps://doi.org/10.1002/ajmg.a.63540openalex-snapshot
ARID2 , a milder cause of Coffin‐Siris Syndrome ? Broadening the phenotype with 17 additional individuals
inferred← citeshttps://doi.org/10.1002/ajmg.a.70108openalex-snapshot
Unusual Recombinant Chromosome 6 Derived From a Parental Rearrangement With Complex Paracentric Inversions
inferred← citeshttps://doi.org/10.1002/ajmg.c.31406openalex-snapshot
Numerous BAF complex genes are mutated in Coffin–Siris syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.c.31407openalex-snapshot
Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A
inferred← citeshttps://doi.org/10.1002/ajmg.c.31408openalex-snapshot
Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.c.31409openalex-snapshot
Phenotype and genotype in Nicolaides–Baraitser syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.c.31411openalex-snapshot
Clinical features, diagnostic criteria, and management of Coffin–Siris syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.c.31412openalex-snapshot
DOORS syndrome: Phenotype, genotype and comparison with Coffin‐Siris syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.c.31413openalex-snapshot
The transcriptional regulatorADNPlinks the BAF (SWI/SNF) complexes with autism
inferred← citeshttps://doi.org/10.1002/ajmg.c.31414openalex-snapshot
The ARID1B phenotype: What we have learned so far
inferred← citeshttps://doi.org/10.1002/ajmg.c.31415openalex-snapshot
Coffin–Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing
inferred← citeshttps://doi.org/10.1002/ajmg.c.31416openalex-snapshot
The role of BAF (mSWI/SNF) complexes in mammalian neural development
inferred← citeshttps://doi.org/10.1002/ajmg.c.31839openalex-snapshot
Systemic and ocular manifestations of a patient with mosaic ARID1A‐ a ssociated Coffin‐Siris syndrome and review of select mosaic conditions with ophthalmic manifestations
inferred← citeshttps://doi.org/10.1002/bdr2.1053openalex-snapshot
Hypomethylation and decreased expression of BRG1 in the myocardium of patients with congenital heart disease
inferred← citeshttps://doi.org/10.1002/bdr2.2058openalex-snapshot
Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review
inferred← citeshttps://doi.org/10.1002/bdr2.2253openalex-snapshot
SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder
inferred← citeshttps://doi.org/10.1002/bdr2.2271openalex-snapshot
Epigenetic regulation of craniofacial development and disease
inferred← citeshttps://doi.org/10.1002/bies.201400087openalex-snapshot
Chromatin regulators in neurodevelopment and disease: Analysis of fly neural circuits provides insights
inferred← citeshttps://doi.org/10.1002/bies.202000203openalex-snapshot
The changing chromatome as a driver of disease: A panoramic view from different methodologies
inferred← citeshttps://doi.org/10.1002/ccr3.73083openalex-snapshot
Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin–Siris Syndrome and Sialuria From India
inferred← citeshttps://doi.org/10.1002/ccr3.8230openalex-snapshot
Treatment of psychiatric comorbidities and interaction patterns in Coffin‐Siris syndrome: A case report of a 4‐year‐old girl
inferred← citeshttps://doi.org/10.1002/humu.22394openalex-snapshot
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
inferred← citeshttps://doi.org/10.1002/humu.22463openalex-snapshot
High Frequency Strand Slippage Mutations inCTCFin MSI-Positive Endometrial Cancers
inferred← citeshttps://doi.org/10.1002/humu.22783openalex-snapshot
Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?
inferred← citeshttps://doi.org/10.1002/humu.23034openalex-snapshot
A Role for the Chromatin‐Remodeling FactorBAZ1Ain Neurodevelopment
inferred← citeshttps://doi.org/10.1002/humu.23040openalex-snapshot
Deep Genetic Connection Between Cancer and Developmental Disorders
inferred← citeshttps://doi.org/10.1002/humu.23282openalex-snapshot
Heterozygous variants inACTL6A, encoding a component of the BAF complex, are associated with intellectual disability
inferred← citeshttps://doi.org/10.1002/ijc.28705openalex-snapshot
Exome sequencing reveals frequent inactivating mutations inARID1A, ARID1B, ARID2andARID4Ain microsatellite unstable colorectal cancer
inferred← citeshttps://doi.org/10.1002/mgg3.2005openalex-snapshot
Case report of bilateral ovarian fibromas associated with de novo germline variants in PTCH1 and SMARCA4
inferred← citeshttps://doi.org/10.1002/mgg3.511openalex-snapshot
Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE 1, in a patient with Angelman‐like syndrome
inferred← citeshttps://doi.org/10.1002/mgg3.70198openalex-snapshot
Clinical and Genetic Analysis of SMARCC2 ‐Related Diseases in Three Chinese Patients
inferred← citeshttps://doi.org/10.1002/path.4926openalex-snapshot
SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type
inferred← citeshttps://doi.org/10.1002/pbc.24793openalex-snapshot
Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS)
inferred← citeshttps://doi.org/10.1002/pbc.25772openalex-snapshot
SMARCA4-Mutated Atypical Teratoid/Rhabdoid Tumor with Retained BRG1 Expression
inferred← citeshttps://doi.org/10.1002/pbc.31872openalex-snapshot
Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant
inferred← citeshttps://doi.org/10.1002/pd.6213openalex-snapshot
Prenatal diagnosis of Coffin‐Siris syndrome: What are the fetal features?
inferred← citeshttps://doi.org/10.1002/wdev.244openalex-snapshot
Polycomb and trithorax opposition in development and disease
inferred← citeshttps://doi.org/10.1007/978-1-4614-6434-1_148-1openalex-snapshot
Epigenomic Measurements in Brain Tissues
inferred← citeshttps://doi.org/10.1007/978-1-4614-8624-4_3openalex-snapshot
Chromatin Remodeling Complexes
inferred← citeshttps://doi.org/10.1007/978-1-4939-1622-1_5openalex-snapshot
PBRM1: A Critical Subunit of the SWI/SNF Chromatin Remodeling Complex
inferred← citeshttps://doi.org/10.1007/978-1-4939-3474-4_148openalex-snapshot
Epigenomic Measurements in Brain Tissues
inferred← citeshttps://doi.org/10.1007/978-3-030-88832-9_148openalex-snapshot
Epigenomic Measurements in Brain Tissues
inferred← citeshttps://doi.org/10.1007/978-3-031-45654-1_7openalex-snapshot
The SWI/SNF Complex: A Frequently Mutated Chromatin Remodeling Complex in Cancer
inferred← citeshttps://doi.org/10.1007/978-3-031-68550-7_9openalex-snapshot
Chromatin Remodelers in Neuronal Gene Transcription
inferred← citeshttps://doi.org/10.1007/978-3-031-75790-7_2openalex-snapshot
What Is and Isn’t an Ectodermal Dysplasia?
inferred← citeshttps://doi.org/10.1007/s00018-020-03531-wopenalex-snapshot
Akirin proteins in development and disease: critical roles and mechanisms of action
inferred← citeshttps://doi.org/10.1007/s00018-020-03714-5openalex-snapshot
The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective
inferred← citeshttps://doi.org/10.1007/s00401-014-1323-xopenalex-snapshot
SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis
inferred← citeshttps://doi.org/10.1007/s00412-015-0530-0openalex-snapshot
Chromatin deregulation in disease
inferred← citeshttps://doi.org/10.1007/s00431-025-06729-xopenalex-snapshot
Identification of novel variants in the ARID1B gene causing Coffin–Siris syndrome
inferred← citeshttps://doi.org/10.1007/s00439-013-1271-xopenalex-snapshot
Genetic syndromes caused by mutations in epigenetic genes
inferred← citeshttps://doi.org/10.1007/s00439-015-1535-8openalex-snapshot
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
inferred← citeshttps://doi.org/10.1007/s00439-016-1668-4openalex-snapshot
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability
inferred← citeshttps://doi.org/10.1007/s00439-016-1753-8openalex-snapshot
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis
inferred← citeshttps://doi.org/10.1007/s00439-017-1757-zopenalex-snapshot
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype
inferred← citeshttps://doi.org/10.1007/s00439-017-1758-yopenalex-snapshot
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
inferred← citeshttps://doi.org/10.1007/s00441-017-2708-7openalex-snapshot
SoxC transcription factors: multifunctional regulators of neurodevelopment
inferred← citeshttps://doi.org/10.1007/s10048-015-0452-2openalex-snapshot
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
inferred← citeshttps://doi.org/10.1007/s10048-015-0454-0openalex-snapshot
Mutations in ARID2 are associated with intellectual disabilities
inferred← citeshttps://doi.org/10.1007/s10048-015-0472-yopenalex-snapshot
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening
inferred← citeshttps://doi.org/10.1007/s10571-023-01361-5openalex-snapshot
A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice
inferred← citeshttps://doi.org/10.1007/s10689-016-9957-6openalex-snapshot
The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases
inferred← citeshttps://doi.org/10.1007/s10689-025-00486-4openalex-snapshot
SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis
inferred← citeshttps://doi.org/10.1007/s10689-025-00507-2openalex-snapshot
Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies
inferred← citeshttps://doi.org/10.1007/s10741-015-9483-xopenalex-snapshot
Epigenetics of the failing heart
inferred← citeshttps://doi.org/10.1007/s10803-021-05365-2openalex-snapshot
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
inferred← citeshttps://doi.org/10.1007/s11010-019-03600-0openalex-snapshot
The ATPase BRG1/SMARCA4 is a protein interaction platform that recruits BAF subunits and the transcriptional repressor REST/NRSF in neural progenitor cells
inferred← citeshttps://doi.org/10.1007/s11033-024-10216-1openalex-snapshot
The effect of LARP7 on gene expression during osteogenesis
inferred← citeshttps://doi.org/10.1007/s11060-017-2711-6openalex-snapshot
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma
inferred← citeshttps://doi.org/10.1007/s11306-015-0786-7openalex-snapshot
Non-targeted metabolomics of Brg1/Brm double-mutant cardiomyocytes reveals a novel role for SWI/SNF complexes in metabolic homeostasis
inferred← citeshttps://doi.org/10.1007/s11684-014-0303-9openalex-snapshot
Exome sequencing greatly expedites the progressive research of Mendelian diseases
inferred← citeshttps://doi.org/10.1007/s11825-015-0071-1openalex-snapshot
Neue syndromale Krankheitsbilder mit Mikrozephalie
inferred← citeshttps://doi.org/10.1007/s11845-015-1298-1openalex-snapshot
Ongoing challenges in the treatment of adenoid cystic carcinoma of the head and neck
inferred← citeshttps://doi.org/10.1007/s12031-017-0900-6openalex-snapshot
Epigenetic Mistakes in Neurodevelopmental Disorders
inferred← citeshttps://doi.org/10.1007/s12031-020-01666-wopenalex-snapshot
Altered ANRIL Methylation in Epileptic Patients
inferred← citeshttps://doi.org/10.1007/s12033-018-0107-2openalex-snapshot
Modulating the Expression Strength of the Baculovirus/Insect Cell Expression System: A Toolbox Applied to the Human Tumor Suppressor SMARCB1/SNF5
inferred← citeshttps://doi.org/10.1007/s12035-016-0306-4openalex-snapshot
Recruitment by the Repressor Freud-1 of Histone Deacetylase-Brg1 Chromatin Remodeling Complexes to Strengthen HTR1A Gene Repression
inferred← citeshttps://doi.org/10.1007/s13237-026-00634-wopenalex-snapshot
Chromatin remodelers in heart development and congenital heart defects
inferred← citeshttps://doi.org/10.1007/s13258-022-01231-2openalex-snapshot
Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4
inferred← citeshttps://doi.org/10.1007/s13311-020-00868-9openalex-snapshot
Finding Suitable Clinical Endpoints for a Potential Treatment of a Rare Genetic Disease: the Case of ARID1B
inferred← citeshttps://doi.org/10.1007/s40124-014-0039-7openalex-snapshot
Utility and Challenges of Next Generation Sequencing in Pediatric Disorders
inferred← citeshttps://doi.org/10.1016/b978-0-12-383834-6.00046-xopenalex-snapshot
Abnormal Body Size and Proportion
inferred← citeshttps://doi.org/10.1016/b978-0-12-417114-5.00018-8openalex-snapshot
Epigenetics in Intellectual Disability
inferred← citeshttps://doi.org/10.1016/b978-0-12-800105-9.00001-9openalex-snapshot
The Newly Emerging View of the Genome
inferred← citeshttps://doi.org/10.1016/b978-0-12-800226-1.00013-7openalex-snapshot
Epigenetic dysregulation in brain tumors and neurodevelopment
inferred← citeshttps://doi.org/10.1016/b978-0-12-801739-5.00007-6openalex-snapshot
Next Generation Sequencing in Dysmorphology
inferred← citeshttps://doi.org/10.1016/b978-0-12-803239-8.00023-5openalex-snapshot
Pediatric Diseases and Epigenetics
inferred← citeshttps://doi.org/10.1016/b978-0-12-823577-5.00030-1openalex-snapshot
Epigenetics in intellectual disability
inferred← citeshttps://doi.org/10.1016/b978-0-12-823577-5.00036-2openalex-snapshot
ATAC-seq and psychiatric disorders
inferred← citeshttps://doi.org/10.1016/b978-0-12-823928-5.00001-3openalex-snapshot
Pediatric diseases and epigenetics
inferred← citeshttps://doi.org/10.1016/b978-0-323-24475-6.00007-8openalex-snapshot
Disorders of Hair and Nails
inferred← citeshttps://doi.org/10.1016/b978-0-409-90018-7.50039-6openalex-snapshot
Coffin–Siris Syndrome
inferred← citeshttps://doi.org/10.1016/b978-0-443-10944-7.00056-1openalex-snapshot
Emerging Gene-Based Pathways: Chromatin Remodeling Disorders
inferred← citeshttps://doi.org/10.1016/b978-0-443-18516-8.00011-9openalex-snapshot
Epigenetic dysregulation in brain tumors
inferred← citeshttps://doi.org/10.1016/b978-0-444-63326-2.00014-4openalex-snapshot
Epigenetic mechanisms in epilepsy
inferred← citeshttps://doi.org/10.1016/b978-1-4557-2638-7.00029-8openalex-snapshot
Selected Hereditary Diseases
inferred← citeshttps://doi.org/10.1016/b978-1-4557-3811-3.00047-6openalex-snapshot
10.1016/b978-1-4557-3811-3.00047-6
inferred← citeshttps://doi.org/10.1016/j.ajhg.2012.05.003openalex-snapshot
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
inferred← citeshttps://doi.org/10.1016/j.ajhg.2012.05.005openalex-snapshot
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
inferred← citeshttps://doi.org/10.1016/j.ajhg.2013.04.003openalex-snapshot
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
inferred← citeshttps://doi.org/10.1016/j.ajhg.2013.05.007openalex-snapshot
De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability
inferred← citeshttps://doi.org/10.1016/j.ajhg.2014.04.006openalex-snapshot
De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea
inferred← citeshttps://doi.org/10.1016/j.ajhg.2015.08.002openalex-snapshot
Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling
inferred← citeshttps://doi.org/10.1016/j.ajhg.2016.08.001openalex-snapshot
De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
inferred← citeshttps://doi.org/10.1016/j.ajhg.2018.01.014openalex-snapshot
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
inferred← citeshttps://doi.org/10.1016/j.ajhg.2018.04.005openalex-snapshot
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes
inferred← citeshttps://doi.org/10.1016/j.ajhg.2018.11.007openalex-snapshot
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
inferred← citeshttps://doi.org/10.1016/j.ajhg.2019.02.001openalex-snapshot
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
inferred← citeshttps://doi.org/10.1016/j.ajhg.2020.11.003openalex-snapshot
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
inferred← citeshttps://doi.org/10.1016/j.ajhg.2024.07.022openalex-snapshot
ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification
inferred← citeshttps://doi.org/10.1016/j.ajoc.2025.102396openalex-snapshot
Delayed diagnosis of glaucoma in Coffin-Siris syndrome
inferred← citeshttps://doi.org/10.1016/j.bbagrm.2018.10.004openalex-snapshot
Regulation of ATM and ATR by SMARCAL1 and BRG1
inferred← citeshttps://doi.org/10.1016/j.bcp.2020.114200openalex-snapshot
The mechanisms of action of chromatin remodelers and implications in development and disease
inferred← citeshttps://doi.org/10.1016/j.braindev.2014.08.009openalex-snapshot
Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability
inferred← citeshttps://doi.org/10.1016/j.cancergen.2015.02.003openalex-snapshot
Germline and somatic mutations in meningiomas
inferred← citeshttps://doi.org/10.1016/j.carpath.2013.09.003openalex-snapshot
SWI/SNF chromatin-remodeling complexes in cardiovascular development and disease
inferred← citeshttps://doi.org/10.1016/j.ccr.2012.06.008openalex-snapshot
Cancer Genetics and Epigenetics: Two Sides of the Same Coin?
inferred← citeshttps://doi.org/10.1016/j.cell.2013.02.014openalex-snapshot
Transcriptional Regulation and Its Misregulation in Disease
inferred← citeshttps://doi.org/10.1016/j.cell.2019.10.044openalex-snapshot
Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling
inferred← citeshttps://doi.org/10.1016/j.cell.2020.09.051openalex-snapshot
A Structural Model of the Endogenous Human BAF Complex Informs Disease Mechanisms
inferred← citeshttps://doi.org/10.1016/j.cellsig.2026.112510openalex-snapshot
ARID1B regulates sphingolipid metabolism and myelin development via STAG2: Mechanistic insights into ARID1B-related coffin–siris syndrome
inferred← citeshttps://doi.org/10.1016/j.celrep.2021.109357openalex-snapshot
Neuronal activity-induced BRG1 phosphorylation regulates enhancer activation
inferred← citeshttps://doi.org/10.1016/j.clim.2023.109245openalex-snapshot
Epigenetic regulation of T cell lineages in skin and blood following hematopoietic stem cell transplantation
inferred← citeshttps://doi.org/10.1016/j.clindermatol.2022.02.007openalex-snapshot
Genodermatoses associated with melanocytic nevi
inferred← citeshttps://doi.org/10.1016/j.conb.2013.09.003openalex-snapshot
Creating a neural specific chromatin landscape by npBAF and nBAF complexes
inferred← citeshttps://doi.org/10.1016/j.ctrv.2021.102287openalex-snapshot
Targeting ARID1A mutations in cancer
inferred← citeshttps://doi.org/10.1016/j.ebr.2025.100825openalex-snapshot
Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome
inferred← citeshttps://doi.org/10.1016/j.ejmg.2012.09.009openalex-snapshot
Heart defects and other features of the 22q11 distal deletion syndrome
inferred← citeshttps://doi.org/10.1016/j.ejmg.2017.08.011openalex-snapshot
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
inferred← citeshttps://doi.org/10.1016/j.ejmg.2018.04.014openalex-snapshot
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients
inferred← citeshttps://doi.org/10.1016/j.ejmg.2019.103739openalex-snapshot
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion
inferred← citeshttps://doi.org/10.1016/j.ejmg.2020.104005openalex-snapshot
Pure 9p duplication syndrome with aplasia of the middle phalanges of the fifth fingers
inferred← citeshttps://doi.org/10.1016/j.ejmg.2021.104407openalex-snapshot
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A
inferred← citeshttps://doi.org/10.1016/j.ejmg.2022.104600openalex-snapshot
“Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma”
inferred← citeshttps://doi.org/10.1016/j.ejmg.2022.104601openalex-snapshot
Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants
inferred← citeshttps://doi.org/10.1016/j.ejmg.2022.104694openalex-snapshot
Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to “Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma” by Cárcamo et al. 2022
inferred← citeshttps://doi.org/10.1016/j.ejmg.2024.104945openalex-snapshot
DPF2-related Coffin-Siris syndrome type 7 in two generations
inferred← citeshttps://doi.org/10.1016/j.ejmg.2025.105048openalex-snapshot
ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape
inferred← citeshttps://doi.org/10.1016/j.ejogrb.2020.08.002openalex-snapshot
Non-invasive prenatal testing detects duplication abnormalities of fetal chromosome 12
inferred← citeshttps://doi.org/10.1016/j.gde.2013.01.007openalex-snapshot
Point mutations as a source of de novo genetic disease
inferred← citeshttps://doi.org/10.1016/j.gde.2013.07.001openalex-snapshot
Reprogramming human fibroblasts to neurons by recapitulating an essential microRNA-chromatin switch
inferred← citeshttps://doi.org/10.1016/j.gde.2020.06.004openalex-snapshot
Molecular mechanisms for targeted ASD treatments
inferred← citeshttps://doi.org/10.1016/j.gendis.2025.101933openalex-snapshot
CXorf67 in malignancies: Deciphering epigenetic landscapes and clinical implications for precision oncology
inferred← citeshttps://doi.org/10.1016/j.gene.2015.04.090openalex-snapshot
Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23
inferred← citeshttps://doi.org/10.1016/j.gim.2021.08.007openalex-snapshot
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
inferred← citeshttps://doi.org/10.1016/j.gim.2021.09.017openalex-snapshot
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
inferred← citeshttps://doi.org/10.1016/j.gim.2022.05.007openalex-snapshot
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
inferred← citeshttps://doi.org/10.1016/j.gim.2024.101283openalex-snapshot
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
inferred← citeshttps://doi.org/10.1016/j.gimo.2023.100818openalex-snapshot
Coffin-Siris syndrome and cancer susceptibility
inferred← citeshttps://doi.org/10.1016/j.gimo.2024.101873openalex-snapshot
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
inferred← citeshttps://doi.org/10.1016/j.ijporl.2019.109735openalex-snapshot
SMARCE1-related Coffin-Siris Syndrome: Case report and otolaryngologic manifestations of the syndrome
inferred← citeshttps://doi.org/10.1016/j.intimp.2024.112755openalex-snapshot
De novo mutations promote inflammation in children with STAT3 gain-of-function syndrome by affecting IL-1β expression
inferred← citeshttps://doi.org/10.1016/j.jbc.2024.107599openalex-snapshot
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome
inferred← citeshttps://doi.org/10.1016/j.jdcr.2018.08.024openalex-snapshot
Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with ARID1 germline mutation
inferred← citeshttps://doi.org/10.1016/j.jmb.2019.02.012openalex-snapshot
Kat6b Modulates Oct4 and Nanog Binding to Chromatin in Embryonic Stem Cells and Is Required for Efficient Neural Differentiation
inferred← citeshttps://doi.org/10.1016/j.jns.2020.116819openalex-snapshot
Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene
inferred← citeshttps://doi.org/10.1016/j.mcn.2017.09.003openalex-snapshot
Epigenetic regulation in medulloblastoma
inferred← citeshttps://doi.org/10.1016/j.mcn.2017.10.008openalex-snapshot
The role of ISWI chromatin remodeling complexes in brain development and neurodevelopmental disorders
inferred← citeshttps://doi.org/10.1016/j.mcn.2017.11.016openalex-snapshot
Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers
inferred← citeshttps://doi.org/10.1016/j.molcel.2019.06.024openalex-snapshot
Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4
inferred← citeshttps://doi.org/10.1016/j.molmed.2021.01.001openalex-snapshot
Ubiquitous Chromatin Modifiers in Congenital Retinal Diseases: Implications for Disease Modeling and Regenerative Medicine
inferred← citeshttps://doi.org/10.1016/j.mrrev.2015.12.002openalex-snapshot
The importance of de novo mutations for pediatric neurological disease—It is not all in utero or birth trauma
inferred← citeshttps://doi.org/10.1016/j.nbscr.2023.100096openalex-snapshot
Pleiotropic effects of a high confidence Autism Spectrum Disorder gene, arid1b, on zebrafish sleep
inferred← citeshttps://doi.org/10.1016/j.nepig.2014.10.001openalex-snapshot
Neuroepigenomics: resources, obstacles, and opportunities
inferred← citeshttps://doi.org/10.1016/j.neubiorev.2014.01.013openalex-snapshot
Drosophila models of early onset cognitive disorders and their clinical applications
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