ReviewNature reviews. Genetics2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Open access · hybridAbstract readReviewConsensus Statement
In one paragraph
Review in Nature reviews. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 208 papers.
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208citing papers in PubMed
20.3field-weighted citation impact, top 1% of its field
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208 citing papers in PubMed, 364 citations in OpenAlex.
- Cohesin preservation across mitosis contributes to restart transcription via Cdk9-mediated activation of RNAPol2.Molecular cell · 2026Article
- Genome folding and nuclear speckles converge to orchestrate fibroblast activation.Science advances · 2026Article
- Unraveling a Rare Diagnosis: Genetically Confirmed Cornelia De Lange Syndrome in an Emirati Female Patient.Cureus · 2026Article
- Whole exome sequencing uncovers genetic syndromes and putative candidate genes underlying orofacial clefts presenting with limb abnormalities in a Sub-Saharan African cohort.BMC medical genomics · 2026Article
- Consensus Recommendations for the Clinical Management of Wolfram syndrome Using a Delphi Method.medRxiv : the preprint server for health sciences · 2026Article
- SMARCD1 and Its Functional Relevance in SWI/SNF and Cancer.International journal of molecular sciences · 2026Review
- Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.Epilepsia · 2026Article
- Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.Prenatal diagnosis · 2026Article
- Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study.European journal of pediatrics · 2026Article
- Severe Neonatal Presentation of Cornelia de Lange Syndrome With Fatal Outcome: A Case Report.Cureus · 2026Article
- Molecular Characterization of Syndromic Hearing Loss in North African Moroccan Families.Biomolecules · 2026Article
- Acute NIPBL depletion reveals in vivo dynamics of loop extrusion and its role in transcription activation.Nature genetics · 2026Article
- A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Review
- Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.Nature communications · 2026Article
- Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models.Cell death discovery · 2026Article
- Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.European journal of pediatrics · 2026Article
- Article
- A genetic screen for modifiers of cohesin clustering identifies regulators of genome folding.Science advances · 2026Article
- Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome.Journal of medical genetics · 2026Article
- Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening.Frontiers in immunology · 2026Article
148 more citing papers are in PubMed but not listed here.
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Authors and funding
43 authors at 20 institutions in 9 countries.
Antonie D KlineHarvey Institute of Human Genetics, Greater Baltimore Medical Centre, Baltimore, MD, USA.
Joanna F MossCerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
Angelo SelicorniDepartment of Paediatrics, Presidio S. Femro, ASST Lariana, Como, Italy.
Anne-Marie BisgaardKennedy Centre, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Glostrup, Denmark.
Matthew A DeardorffDivision of Human Genetics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Peter M GillettGI Department, Royal Hospital for Sick Children, Edinburgh, Scotland, UK.
Stacey L IshmanDepartments of Otolaryngology and Pulmonary Medicine, Cincinnati Children's Hospital Medical Centre, University of Cincinnati, Cincinnati, OH, USA.
Lynne M KerrDivision of Pediatric Neurology, Department of Paediatrics, University of Utah Medical Centre, Salt Lake City, UT, USA.
Alex V LevinPaediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA.
Paul A MulderJonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.
Feliciano J RamosUnit of Clinical Genetics, Paediatrics, University Clinic Hospital 'Lozano Blesa' CIBERER-GCV02 and ISS-Aragón, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, Zaragoza, Spain.
Jolanta WierzbaDepartment of Paediatrics, Haematology and Oncology, Department of General Nursery, Medical University of Gdansk, Gdansk, Poland.
Paola Francesca AjmoneChild and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
David AxtellCdLS Foundation UK and Ireland, The Tower, North Stifford, Grays, Essex, UK.
Natalie BlagowidowHarvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.
Anna CeredaDepartment of Paediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Antonella CostantinoChild and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Valerie Cormier-DaireDepartment of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.
David FitzPatrickHuman Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK.
Marco GradosDivision of Child and Adolescent Psychiatry, John Hopkins University School of Medicine, Baltimore, MD, USA.
Laura GrovesCerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
Whitney GuthrieCentre for Autism Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Sylvia HuismanDepartment of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.
Frank J KaiserSection for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany.
Gerritjan KoekkoekCdLS World Federation's, Hertogenbosch, Netherlands.
Mary LevisWicomico County Board of Education, Salisbury, MD, USA.
Milena MarianiClinical Paediatric Genetics Unit, Paediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, Monza, Italy.
Joseph P McCleeryCentre for Autism Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Leonie A MenkeDepartment of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.
Amy MetrenaDanbury Public Schools, Danbury, CT, USA.
Julia O'ConnorKennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Chris OliverCerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
Juan PieUnit of Clinical Genetics, Paediatrics, University Clinic Hospital 'Lozano Blesa' CIBERER-GCV02 and ISS-Aragón, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, Zaragoza, Spain.
Sigrid PieningJonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.
Carol J PotterDepartment of Gastroenterology, Nationwide Children's, Columbus, OH, USA.
Ana L QuaglioGenética Médica, Hospital del Este, Eva Perón, Tucumán, Argentina.
Egbert RedekerDepartment of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.
David RichmanDepartment of Educational Psychology and Leadership, Texas Tech University, Lubbock, TX, USA.
Claudia RigamontiChild and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Angell ShiThe Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
Zeynep TümerKennedy Centre, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Glostrup, Denmark.
Ingrid D C Van BalkomJonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.
Raoul C HennekamDepartment of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands. r.c.hennekam@amc.uva.nl.
University of Amsterdam · NLChildren's Hospital of Philadelphia · USFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITUniversity of Birmingham · GBGreater Baltimore Medical Center · USKennedy Center · DKLentis · NLThomas Jefferson University · USUniversidad de Zaragoza · ESAzienda Ospedaliera San Gerardo · ITCincinnati Children's Hospital Medical Center · USDanbury Hospital · USGdańsk Medical University · PLHôpital Necker-Enfants Malades · FRJohns Hopkins University · USKennedy Krieger Institute · USNationwide Children's Hospital · USOspedale Papa Giovanni XXIII · ITPresidio Ospedaliero · ITRoyal Hospital for Children · GB
Funding
Medical Research Council MC_UU_00007/3
Abstract
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.
Indexed as
De Lange SyndromeHigh-Throughput Nucleotide SequencingMutationConsensusGenetic Association StudiesHumans
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.