• "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma"
• A Case Series of Familial <em>ARID1B</em> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
• A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
• Accelerated tooth movement in Rsk2-deficient mice with impaired cementum formation
• Airway management of a patient with coffin-lowry syndrome: a case report
• An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report
• Anesthetic management in a child with Coffin Siris syndrome
• ARID1B maintains mesenchymal stem cell quiescence via inhibition of BCL11B-mediated non-canonical Activin signaling
• ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review
• Assessment of HBV variants and novel viral and immune biomarkers in chronic hepatitis B patients with metabolic dysfunction associated steatotic liver disease
• Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature
• Association between two painful and poorly understood conditions: Irritable bowel and sensitive skin syndromes
• BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
• BRM: the core ATPase subunit of SWI/SNF chromatin-remodelling complex-a tumour suppressor or tumour-promoting factor?
• Chromoanagenesis Event Underlies a <em>de novo</em> Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome
• Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome
• Clinical features and genetic analysis of a case with Coffin-Siris syndrome
• Clinical features and genetic analysis of two Chinese patients with Coffin Siris syndrome-1
• Coffin-Siris syndrome and apneas. Comment on "Coffin-Siris syndrome and delayed emergence-Is this an unusual or unknown anesthetic complication? Prabhakar P, Chandran SD, Tembhurne SA, Mathew A, Rai E. Pediatr Anesth. 2024; 00: 1-2. Doi: 10.1111/pan.
• Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene
• Comparative Analysis of Emerging B.1.1.7+E484K SARS-CoV-2 Isolates
• Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
• Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome
• Correction to: First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
• Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group
• De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome
• De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
• Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals
• Discovering candidate imprinted genes and imprinting control regions in the human genome
• DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
• Does pes anserinus tenotomy affect surgical site infection rate in operative tibial plateau fractures?
• DPF2-related Coffin-Siris syndrome type 7 in two generations
• Economic burden of moderate to severe irritable bowel syndrome with constipation in six European countries
• Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature
• Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene
• Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia
• Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature
• Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot
• Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
• Exploring the impacts of a coffin-lying experience on life and death attitudes of medical and nursing students: preliminary findings
• Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients
• Features of colorectal adenomas among young patients with Lynch syndrome according to path_MMR: Results from the PRED-IdF registry
• First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations
• First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
• First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift <em>ARID1B</em> Mutation
• First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation
• First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
• First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review
• Gastric electrical stimulation versus per-oral pyloromyotomy for the treatment of nausea and vomiting associated with gastroparesis: An observational study of two cohorts
• Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients
• Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene
• Genetic and Genomic Analyses of <em>Drosophila melanogaster</em> Models of Chromatin Modification Disorders
• Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders
• Genome-Wide Analysis of the Nucleosome Landscape in Individuals with Coffin-Siris Syndrome
• Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers
• Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis
• Growth charts for individuals with Coffin-Siris syndrome
• High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
• Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease
• HIV Infected T Cells Can Proliferate <em>in vivo</em> Without Inducing Expression of the Integrated Provirus
• Identification and functional analysis of novel <em>SOX11</em> variants in Chinese patients with Coffin-Siris syndrome 9
• Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9
• Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome
• Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing
• Implementation of a Pragmatic Biomarker-Driven Algorithm to Guide Antibiotic Use in the Pediatric Intensive Care Unit: the Optimizing Antibiotic Strategies in Sepsis (OASIS) II Study
• Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders
• Incidence of Multisystem Inflammatory Syndrome in Children Among US Persons Infected With SARS-CoV-2
• Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome
• Koebner phenomenon of vitiligo associated with Coffin-Siris syndrome
• Magnetically Controlled Growing Rods for Early Scoliosis Treatment in Coffin-Siris Syndrome: Case Report and Literature Review
• Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant
• Modeling suggests combined-drug treatments for disorders impairing synaptic plasticity via shared signaling pathways
• Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey
• Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects
• Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development
• Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy
• Non-occlusive mesenteric ischemia in a toddler with 6q25 microdeletion syndrome
• Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1
• Novel missense mutation c.1784A&gt;G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2
• Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2
• Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis
• OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
• Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype
• Pathogenicity of the Canadian Delmarva (DMV/1639) Infectious Bronchitis Virus (IBV) on Female Reproductive Tract of Chickens
• Peripheral Vestibular Dysfunction Is a Common Occurrence in Children With Non-syndromic and Syndromic Genetic Hearing Loss
• Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
• Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review
• Quantitative description of the interactions among kinase cascades underlying long-term plasticity of Aplysia sensory neurons
• Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome
• Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management
• Role of p90 ribosomal S6 kinase in long-term synaptic facilitation and enhanced neuronal excitability
• Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome
• Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
• Temporal bone dysplasia in Coffin-Siris syndrome
• The Epidemiology of Severe Acute Respiratory Syndrome Coronavirus 2 in a Pediatric Healthcare Network in the United States
• The natural history of spinal deformity in patients with Coffin-Lowry syndrome
• Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss
• Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with <em>ARID1</em> germline mutation
• Vitiligo and melanocytic nevi: New findings in Coffin-Siris syndrome associated with ARID1 germline mutation
• Withdrawal during outpatient low dose buprenorphine initiation in people who use fentanyl: a retrospective cohort study