Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening.

Clinical and molecular findings in Cornelia de Lange syndrome. Case series.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.

Loop Extrusion Accelerates Long-Range Enhancer-Promoter Searches in Living Embryos.

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives.

Coronal Clival Cleft: Estimated Prevalence and Clinical Associations in a Pediatric Cohort.

Diagnosis of platelet dysfunction in children: clinical predictors and test methods.

Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.

Cornelia de Lange syndrome: What should a dermatologist know?

A Rare Case of Coexisting 22q11.2 Deletion Syndrome and Cornelia De Lange Syndrome: A Case Report and Review of the Literature.

Aberrant cohesin function in Saccharomyces cerevisiae activates Mcd1 degradation to promote cell lethality.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Evidence of spontaneous mentalizing in children with Cornelia de Lange and fragile X syndromes, but not autistic children.

Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.

Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant.

Co-Occurrence of RAD21 and TNFAIP3 Mutations in Cornelia de Lange Syndrome with Pustular Psoriasis: Potential Molecular Interactions.

Overcoming diagnostic delays in Cornelia De Lange syndrome: the power of AI-driven genomics.

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.

Eltrombopag for Newly Diagnosed Pediatric Immune Thrombocytopenia Requiring Treatment: The PINES Randomized Clinical Trial.

Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.

Dosage sensitivity of the loop extrusion rate confers tunability to genome folding while creating vulnerability to genetic disruption.

A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in an in vitro model by downregulating RAD21 and β-catenin.

Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome.

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients.

Characterization of a difficult-to-treat epilepsy in a child with Cornelia de Lange syndrome with a pathogenic variant in NIPBL gene: a case report.

Exploring the uncharted role of cell senescence in rare diseases.

Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature.

Contrasting Relationships Between Anxiety and Intolerance of Uncertainty in Cornelia de Lange and Fragile X Syndromes.

Executive function deficits as risk markers for psychopathology and autism related traits in cornelia de lange and rubinstein-Taybi syndromes.

Clinical and genetic characteristics associated with dual-positive gene variations.

An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBL.

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.

Generation and characterization of human iPSC lines from two patients with therapy-resistant epilepsy carrying nonsense heterozygous variants in the SMC1A gene.

Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis.

Analysis of combinatorial cohesin subunit gene deletions in budding yeast.

Interaction between long-range chromatin regulators Nipbl & Isl1 synergistically drives heart defects in mice.

Maxillary Sinus Angiosarcoma in Cornelia de Lange Syndrome: A Case Report and Review of the Literature.

Protein turnover downstream of the Nipbl/CRL4 axis contributes to abnormal development in zebrafish embryos.

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement.

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.

X-linked competition - implications for human development and disease.

Cohesin in 3D: development, differentiation, and disease.

The phenotypic spectrum of the Cornelia de Lange-like "Alazami-Yuan syndrome": A case report of the 7th diagnosed individual and review of the literature.

New pathogenic variant c.3855+4A>G in the NIPBL gene associated with Cornelia de Lange syndrome type 1 (OMIM#122470).

A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes.

Clinical Severity Score as a Prognostic Indicator of Communicative Functioning in Cornelia de Lange Syndrome.

Context-Dependent and Gene-Specific Role of Chromatin Architecture Mediated by Histone Modifiers and Loop-extrusion Machinery.

CTCF/RAD21 organize the ground state of chromatin-nuclear speckle association.

A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes.

S. pombe Mis4 is required for exit from G0 as it is necessary for full nuclear separation during the subsequent M phase.

Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

A De Novo Frameshift Variant in SMC1A Causes Non-Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review.

Working toward international consensus defining pediatric "refractory ITP".

Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report.

A Nine-Year-Old Girl With Cornelia de Lange Syndrome: A Case Report and Review of the Literature.

Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells.

Dysphagia and Body Composition in Cornelia de Lange Syndrome.

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report.

Audiological Characterization of Individuals with Cornelia de Lange Syndrome.

The NIPBL-gene mutation of a Cornelia de Lange Syndrome patient causes deficits in the hepatocyte differentiation of induced Pluripotent Stem Cells via altered chromatin-accessibility.

Sleep correlates of behavior functioning in Cornelia de Lange syndrome.

Cornelia de Lange Syndrome: Expanding the Neuropathological Spectrum and Clinical Correlations.

Send in the clowns: A special tribute to medical clowning and clown eponyms in dermatology.

Management of Nasal Polyposis in Pediatric Patients With Cornelia de Lange Syndrome: A Case Series and Literature Review.

Sinusitis-associated ischemic stroke in an adolescent patient with Cornelia de Lange syndrome.

Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.

The cohesin ATPase cycle is mediated by specific conformational dynamics and interface plasticity of SMC1A and SMC3 ATPase domains.

Fdo1, Fkh1, Fkh2, and the Swi6-Mbp1 MBF complex regulate Mcd1 levels to impact eco1 rad61 cell growth in Saccharomyces cerevisiae.

SMC3 contributes to heart development by regulating super-enhancer associated genes.

[Identification and prenatal diagnosis for a novel NIPBL variant in a fetus with Cornelia de Lange syndrome].

A Classic Cornelia De Lange Syndrome Type 5 (CdLS5) With a De Novo Missense Variation of p.Gly210Arg in the HDAC8 Gene With a Novel Phenotype of Generalized Dystonia.

Human Genetics of Ventricular Septal Defect.

[Structural maintenance of chromosomes and associated genetic disorders].

Cornelia de Lange Spectrum.

Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.

Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome.

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts.

Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome.

Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature.

BRD2 promotes antibody class switch recombination by facilitating DNA repair in collaboration with NIPBL.

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.

Gastrulation-stage gene expression in Nipbl+/- mouse embryos foreshadows the development of syndromic birth defects.

Visual attention patterns during a gaze following task in neurogenetic syndromes associated with unique profiles of autistic traits: Fragile X and Cornelia de Lange syndromes.

Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome.

SMC1A epilepsy syndrome: clinical data from a large international cohort.

Three-dimensional sonographic images of fetal hirsutism: prenatal characteristic features in cornelia de lange syndrome.

[Genetic analysis of a fetus with Cornelia de Lange syndrome due to variant of SMC3 gene].

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.

STAG2: Computational Analysis of Missense Variants Involved in Disease.

Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature.

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.

Chromatinopathies: insight in clinical aspects and underlying epigenetic changes.

Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis.

Double somatic mosaicism in Cornelia de Lange syndrome.

Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation.

BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation.

Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy.

CTCF/cohesin organize the ground state of chromatin-nuclear speckle association.

Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening.

Gastrulation-stage gene expression in Nipbl +/- mouse embryos foreshadows the development of syndromic birth defects.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Disappearance of Hepatocellular Adenoma in a Patient with Cornelia de Lange Syndrome after Treatment with Transcatheter Arterial Embolization.

A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.

Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.

Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS).

Cornelia de Lange Syndrome Presenting as Hydrops Fetalis due to Intestinal Atresia.

Coats' Disease in a Patient With Cornelia de Lange Syndrome: Management With Laser and Bevacizumab.

Continuous enzyme activity assay for high-throughput classification of histone deacetylase 8 inhibitors.

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports.

Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.

Behavioural and physiological indicators of anxiety reflect shared and distinct profiles across individuals with neurogenetic syndromes.

HDAC8 as an emerging target in drug discovery with special emphasis on medicinal chemistry.

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.

[Analysis of clinical phenotype and pathogenic variant of a fetus with Cornelia de Lange syndrome type II].

NIPBL and cohesin: new take on a classic tale.

Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders.

Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation.

Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?

Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with Novel NIPBL Variants.

[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness].

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.

Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7.

[Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome].

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome.

Genetic causes of isolated and severe fetal growth restriction in normal chromosomal microarray analysis.

Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.

Establishment of a transgene-free iPS cell line (SDQLCHi046-A) from a young patient bearing a HDAC8 mutation and suffering from Cornelia de Lange Syndrome.

Decreasing Wapl dosage partially corrects embryonic growth and brain transcriptome phenotypes in Nipbl+/- embryos.

Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study.

Cornelia de Lange syndrome and cancer: An open question.

Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.

Pathological Role of HDAC8: Cancer and Beyond.

Divergent presentation of anxiety in high-risk groups within the intellectual disability population.

Novel use of transesophageal echocardiography to optimize hemodynamics and patient positioning during prone scoliosis surgery and safety considerations in the setting of intraoperative neuromonitoring: a case report.

[Prenatal diagnosis and genetic analysis of a fetus with Cornelia de Lange syndrome type 1 due to a splicing variant of NIPBL gene].

Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report.

Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.

Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology.

Gastrostomy and congenital anomalies: a European population-based study.

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.

Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS).

Mutations in TAF8 cause a neurodegenerative disorder.

Identification of DCAF1 by Clinical Exome Sequencing and Methylation Analysis as a Candidate Gene for Autism and Intellectual Disability: A Case Report.

G1-Cyclin2 (Cln2) promotes chromosome hypercondensation in eco1/ctf7 rad61 null cells during hyperthermic stress in Saccharomyces cerevisiae.

Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A.

Cornelia de Lange Syndrome.

A Novel de Novo Variant in 5' UTR of the NIPBL Associated with Cornelia de Lange Syndrome.

Transcription Pause and Escape in Neurodevelopmental Disorders.

Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.

Prenatal diagnosis of Cornelia de Lange syndrome from 12 to 17 weeks' gestation.

Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

Age-related hallmarks of psychopathology in Cornelia de Lange and Rubinstein-Taybi syndromes.

uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant.

Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S).

KMT2A: Umbrella Gene for Multiple Diseases.

Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report.

Congenital paraesophageal hernia with gastric outlet obstruction in a neonate with Cornelia de Lange Syndrome.

Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.

Anesthetic management of a child with Cornelia de Lange Syndrome undergoing open heart surgery: A case report.

Esco2 and cohesin regulate CRL4 ubiquitin ligase ddb1 expression and thalidomide teratogenicity.

Behavioral markers of social anxiety in Cornelia de Lange Syndrome: A brief systematic review.

Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.

Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020.

Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.

Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.

Synophrys: The societal implications of the bad ol' unibrow.

The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes.

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.

Surgical management of a collateral arch channel and aortic coarctation.

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.

[A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene].

High rate of autonomic neuropathy in Cornelia de Lange Syndrome.

CPX-351 induces remission in newly diagnosed pediatric secondary myeloid malignancies.

A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review.

Mediator complex proximal Tail subunit MED30 is critical for Mediator core stability and cardiomyocyte transcriptional network.

Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.

Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.

Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients.

Functional and Clinical Outcomes of Combined Simultaneous Bilateral Anterior Distal Femoral Plate Hemiepiphysiodesis and Hamstrings Release in Management of Knee Flexion Contractures in Children With Neuromuscular Disorders.

BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome.

Clinical experience with non-invasive prenatal screening for single-gene disorders.