Research By Disease – CheckOrphan

Disease: Hypertrichosis- hyperkeratosis- mental retardation- and distinctive facial features

Arid1b haploinsufficiency in pyramidal neurons causes cellular and circuit changes in neocortex but is not sufficient to produce behavioral or seizure phenotypes
SMARCA4: Implications of an Altered Chromatin-Remodeling Gene for Cancer Development and Therapy
"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma"
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
A de novo variant of BICRA results in Coffin-Siris syndrome 12
A newborn with coffin-siris syndrome
A novel BICRA variant causing Coffin-Siris Syndrome
A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
Abnormal chromatin remodeling caused by ARID1A deletion leads to malformation of the dentate gyrus
Acetate supplementation restores cognitive deficits caused by ARID1A haploinsufficiency in excitatory neurons
Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome
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 milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals
ARID2, a Rare Cause of Coffin-Siris Syndrome: A Clinical Description of Two Cases
ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review
Autism spectrum disorder and Coffin-Siris syndrome-Case report
CHARGE syndrome and related disorders: a mechanistic link
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 two Chinese patients with Coffin Siris syndrome-1
Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome
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 and delayed emergence-Is this an unusual or unknown anesthetic complication?
Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4
Coffin-Siris syndrome: A case report and dental findings
Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant
Coffin-Siris syndrome: Clinical description of two cases
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy
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
Diagnosis a fetus with Coffin-Siris syndrome due to variant of SMARCA4 gene by whole exome sequencing
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
DPF2-related Coffin-Siris syndrome type 7 in two generations
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
Epilepsy features in ARID1B-related Coffin-Siris syndrome
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
Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes
Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish
First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review
First-trimester prenatal diagnosis of Coffin-Siris syndrome-related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology
Frameshift Variant in ARID2 in a Chilean Individual with Coffin-Siris Syndrome Phenotype
Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients
Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene
Genetic and Genomic Analyses of Drosophila melanogaster Models of Chromatin Modification Disorders
Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
Identification and functional analysis of novel SOX11 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 novel BICRA variant leading to the newly described Coffin-Siris syndrome 12
Identification of a novel de novo mutation in SOX4 for syndromic tooth agenesis
Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review
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
Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders
Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant
Language Impairments in Individuals With Coffin-Siris Syndrome
Late-onset hypertension in a child with growth retardation: Answers
Magnetically Controlled Growing Rods for Early Scoliosis Treatment in Coffin-Siris Syndrome: Case Report and Literature Review
Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report
Nail dysplasia and digital hypoplasia - Coffin-Siris syndrome
Neurocognitive, behavioral and socio-adaptive functioning assessment in a case of Coffin-Siris syndrome: A holistic approach/perspective beyond the identification of the disorder
Neurodevelopmental disorders: 2022 update
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 Variants of SOX4 in Patients with Intellectual Disability
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
Occurrence of sotos syndrome and coffin-siris syndrome in a family
On the Interaction Between SMARCAL1 and BRG1
Onychodystrophy with Multiple Epiphyseal Dysplasia: Literature Review
Oral and dental abnormalities in Coffin Siris syndrome : A new case report
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
Pigmentation abnormalities in Coffin-Siris syndrome
Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review
Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease
Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A
Protein destabilization underlies pathogenic missense mutations in ARID1B
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 Carcamo et al. 2022
Recurrence of ARID1B -related Coffin-Siris Syndrome by possible gonadal mosaicism
Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicism
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies
Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants
Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome
Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients
Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients
Treatment of psychiatric comorbidities and interaction patterns in Coffin-Siris syndrome: A case report of a 4-year-old girl
Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss