ReviewJournal of medical genetics2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Open access · hybridAbstract readReviewConsensus Statement
In one paragraph
Review in Journal of medical genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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0cells of the map it votes in
28citing papers in PubMed
18.4field-weighted citation impact, top 1% of its field
What it found
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Who cites it
28 citing papers in PubMed, 36 citations in OpenAlex.
- Article
- From weeks to hours: rapid whole-genome sequencing reduces diagnostic odyssey in Menke-Hennekam syndrome-a case report.Journal of medical case reports · 2026Article
- The interactions between sleep difficulties and clinical features in children with rare genetic syndromes: a structural equation modelling approach.BMC pediatrics · 2026Article
- Epigenetic Modulation Is a Key Mechanism in Cognitive Deficit: Unveiling Garcinol as a Potent HAT Inhibitor in Improving Alzheimer's Disease.ACS omega · 2026Review
- Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.Clinical genetics · 2026Article
- Case Report: Sequential treatment of growth hormone deficiency and central precocious puberty in a girl withFrontiers in pediatrics · 2026Article
- Prenatal genotype-phenotype correlations in four fetuses with Rubinstein-Taybi syndrome due to EP300 mutations: a case series and literature review.Frontiers in genetics · 2026Article
- Epigenetic regulation of gene expression in rare inherited retinal disorders.Frontiers in genetics · 2026Review
- Writing the Engram: Epigenetic Mechanisms of Memory Allocation.Journal of neurochemistry · 2025Review
- DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.Human genome variation · 2025Article
- Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders.Genome medicine · 2025Article
- Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to NovelGenes · 2025Article
- Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.Genes · 2025Article
- Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.BMC pediatrics · 2025Review
- [Anesthesia in Rubinstein-Taybi syndrome in childhood].Die Anaesthesiologie · 2025Article
- A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia.Molecular genetics & genomic medicine · 2025Article
- Brain Abnormalities in Prenatally Diagnosed Rubinstein-Taybi Syndrome.Prenatal diagnosis · 2025Review
- Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review.BMC pediatrics · 2025Review
- Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.Clinical genetics · 2025Article
- Exome sequencing identifies novel genes associated with cerebellar volume and microstructure.Communications biology · 2025Article
Corrections and comments
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Authors and funding
52 authors at 20 institutions in 12 countries.
Didier LacombeDepartment of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France didier.lacombe@chu-bordeaux.fr.ORCID 0000-0002-8956-2207
Agnès Bloch-ZupanFaculté de Chirurgie Dentaire, Université de Strasbourg, and Centre de référence des maladies rares orales et dentaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, and Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, Illkirch, France.
Cecilie BredrupDepartment of Clinical Medicine, University of Bergen, 5020 Bergen, Norway.
Edward B CooperDepartment of Anesthesiology, Cincinnati Children's Hospital, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Sofia Douzgou HougeDepartment of Medical Genetics, Haukeland University Hospital, Bergen, Norway and Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Sixto García-MiñaúrInstituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
Hülya KayseriliDepartment of Medical Genetics, Koc University School of Medicine (KUSOM), 34010 Istanbul, Turkey.ORCID 0000-0003-0376-499X
Lidia LarizzaLaboratorio di Ricerca in Citogenetica medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Milano, Italy.ORCID 0000-0002-1367-7227
Vanesa Lopez GonzalezDepartment of Pediatrics, Medical Genetics Section, Virgen de la Arrixaca University Hospital, IMIB, CIBERER, Murcia, Spain.
Leonie A MenkeDepartment of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Donatella MilaniFondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.
Francesco SaettiniFondazione Matilde Tettamanti Menotti De Marchi Onlus, Fondazione Monza e Brianza per il Bambino e la sua Mamma, Monza, Italy.
Cathy A StevensDepartment of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.
Lloyd TookeDepartment of Pediatrics, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa.
Jill A Van der ZeeDepartment of Pediatric Urology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Maria M Van GenderenBartiméus Diagnostic Center for complex visual disorders, Zeist and Department of Ophthalmology, University Medical Center Utrecht, Utrecht, Netherlands.
Julien Van-GilsDepartment of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.
Jane WaiteSchool of Psychology, College of Health and Life Sciences, Aston University, Birmingham, UK.
Jean-Louis AdrienUniversité de Paris, Laboratoire de Psychopathologie et Processus de Santé, Boulogne Billancourt, France.
Oliver BartschMVZ - Humangenetik, University Medical Center, Johannes Gutenberg University Mainz, 55131 Mainz, Germany.
Pierre BitounDépartement de Genetique, SIDVA 91, Juvisy-sur-Orge, France.
Antonia H M BoutsDepartment of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Anna M Cueto-GonzálezDepartment of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Elena Dominguez-GarridoMolecular Diagnostics Laboratory, Fundacion Rioja Salud, La Rioja, Spain.
Floor A DuijkersDepartment of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Patricia FergelotDepartment of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.
Elizabeth HalsteadPsychology and Human Development Department, University College London, London, UK.
Sylvia A HuismanDepartment of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Camilla MeossiFondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.
Jo MullinsRubinstein-Taybi Syndrome Support Group, Registered Charity, Rickmansworth, UK.
Sarah M NikkelDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Chris OliverSchool of Psychology, University of Birmingham, Edgbaston, UK.
Elisabetta PradaFondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.
Alessandra ReiAssociazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.
Ilka RiddleDivision of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Cristina Rodriguez-FonsecaAsociación Española para el Sindrome de Rubinstein-Taybi (AESRT), Madrid, Spain.
Rebecca Rodríguez PenaImmunology, Hospital Universitario La Paz, IdiPaz, Madrid, Spain.
Janet RussellAssociazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.
Alicia SabaFrench RTS Support Group, Paris, France.
Fernando Santos-SimarroUnit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain.
Brittany N SimpsonDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, Cincinnati School of Medicine, Cincinnati, Ohio, USA.
David F SmithDepartment of Pediatric Otolaryngology, Cincinnati Children's Hospital Medical Center, and Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Markus F StevensDepartment of Anesthesiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Katalin SzakszonInstitution of Pediatrics, University of Debrecen Clinical Centre, Debrecen, Hungary.ORCID 0000-0002-2659-7488
Emmanuelle TaupiacDepartment of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.
Nadia TotaroAssociazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.
Irene Valenzuena PalafollDepartment of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.ORCID 0000-0003-2350-6058
Daniëlle C M Van Der KaayDivision of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.
Michiel P Van WijkDepartment of Pediatric Gastroenterology, Emma Children's Hospital, Amsterdam UMC, University Amsterdam, Amsterdam, Netherlands.
Klea VyshkaEuropean Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Robert Debré University Hospital, Paris, France.
Susan WileyDivision of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Raoul C HennekamDepartment of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Emma Kinderziekenhuis · NLCincinnati Children's Hospital Medical Center · USUniversité de Bordeaux · FRFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITAmsterdam University Medical Centers · NLHospital Universitario La Paz · ESVall d'Hebron Hospital Universitari · ESAston University · GBFondazione Matilde Tettamanti Menotti De Marchi · ITHaukeland University Hospital · NOHealth Research Institute of the Balearic Islands · ESHospital Universitario Virgen de la Arrixaca · ESInserm · FRIRCCS Istituto Auxologico Italiano · ITJohannes Gutenberg University Mainz · DEKoç University · TRUniversité Paris Cité · FRUniversity College London · GBUniversity Medical Center Utrecht · NLUniversity of Bergen · NO
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (
Indexed as
CREB-Binding ProteinE1A-Associated p300 ProteinRubinstein-Taybi SyndromeDisease ManagementHumansMutationCREB-Binding ProteinCREBBP protein, humanE1A-Associated p300 ProteinEP300 protein, humanGenetic Diseases, InbornGenetics, MedicalMental DisordersPhenotype
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