ArticleWellcome open research2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with
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Article in Wellcome open research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 2 of them syntheses that pooled it.
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73citing papers in PubMed, 2 pooled it
8.5field-weighted citation impact, top 2% of its field
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Who cites it
73 citing papers in PubMed, 2 syntheses or guidelines pooled it, 110 citations in OpenAlex.
- Dysmorphic syndromes with overgrowth - systematic review. Part 1 - monogenic syndromes.Pediatric endocrinology, diabetes, and metabolism · 2025Pooled it
- Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.Molecular autism · 2019Pooled it
- Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort.Nature communications · 2026Article
- Multidomain interaction governs the filamentous assembly of the dominant-negative DNMT3A R882H mutant.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Integrative multi-omics analysis of DNA methylome and transcriptome in a tyrosine kinase inhibitor LPM4870108-induced rat model of obesity.International journal of obesity (2005) · 2026Article
- Epileptic encephalopathy with spike-and-wave activation in sleep associated with Tatton-Brown-Rahman syndrome responsive to highly purified cannabidiol.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- Co-occurrence of low-grade fibromyxoid sarcoma and familial Tatton-Brown-Rahman syndrome with germline DNMT3A c.1904G > A (p.Arg635Gln): a case report.BMC pediatrics · 2026Article
- Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.European journal of human genetics : EJHG · 2026Article
- Cardiac epigenome in heart development and disease.Nature reviews. Cardiology · 2026Review
- The genetics of obesity: aetiology, prevention and therapy.Nature metabolism · 2026Review
- Developing a Replicable Cardiogenetic Care Model: Insights from the Saguenay-Lac-Saint-Jean Founder Population.Journal of community genetics · 2026Article
- Structural insight into hierarchical DNMT3A autoinhibition and its dysregulation in disease.Nature communications · 2026Article
- Article
- Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies.Disease models & mechanisms · 2025Review
- Epigenetic Mechanisms of Obesity: Insights from Transgenic Animal Models.Life (Basel, Switzerland) · 2025Review
- Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.American journal of medical genetics. Part A · 2025Article
- Mechanisms of brain overgrowth in autism spectrum disorder with macrocephaly.Frontiers in neuroscience · 2025Review
- The N-terminal region of DNMT3A engages the nucleosome surface to aid chromatin recruitment.EMBO reports · 2024Article
- Using human disease mutations to understand de novo DNA methyltransferase function.Biochemical Society transactions · 2024Review
- Dnmt3a1 regulates hippocampus-dependent memory via the downstream target Nrp1.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
51 authors at 20 institutions in 14 countries.
Katrina Tatton-BrownDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Anna ZachariouDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.ORCID https://orcid.org/0000-0002-7867-8327
Chey LovedayDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.ORCID https://orcid.org/0000-0002-2291-372X
Anthony RenwickDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Shazia MahamdallieDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Lise AksglaedeDepartment of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
Diana BaralleHuman Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southhampton, UK.ORCID https://orcid.org/0000-0003-3217-4833
Daniela Barge-SchaapveldDepartment of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.ORCID https://orcid.org/0000-0003-4461-4293
Moira BlythDepartment of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK.
Mieke BoumaElver Intellectual Disability Centre, Nieuw Wehl, Netherlands.ORCID https://orcid.org/0000-0002-4563-8396
Jeroen BreckpotCenter for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium.
Beau CrabbGenetics Department, Children's Hospitals and Clinics of Minneapolis, Minneapolis, MN, USA.
Tabib DabirNorthern Ireland Regional Genetics Centre, Clinical Genetics Service, Belfast City Hospital, Belfast, UK.
Valerie Cormier-DaireINSERM UMR1163, IMAGINE Institute affiliate, Paris, France.
Christine FauthDivision of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.ORCID https://orcid.org/0000-0002-4137-6034
Richard FisherTeesside Genetics Unit, The James Cook University Hospital, Middlesbrough, UK.
Blanca GenerDepartment of Genetics, Cruces University Hospital, Biocruces Health Research Institute, centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Basque Country, Spain.
David GoudieDepartment of Human Genetics, Ninewells Hospital and Medical School, Dundee, UK.
Tessa HomfraySouth West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.
Matthew HunterMonash Genetics, Monash Health, Melbourne, Australia.ORCID https://orcid.org/0000-0002-7659-1404
Agnete JorgensenDivision of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
Sarina G KantDepartment of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.
Cathy Kirally-BorriDepartment of Health, Genetic Services of Western Australia, Subiaco, Australia.
David KoolenDepartment of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
Ajith KumarNorth East Thames Regional Genetics Service and Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
Anatalia LabilloyDepartment of Pediatrics, University of Cincinnati, College of Medicine, Division of Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Melissa LeesNorth East Thames Regional Genetics Service and Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
Carlo MarcelisDepartment of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
Catherine MercerHuman Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southhampton, UK.
Cyril MignotDépartement de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares, Assistance Publique - Hôpitaux de Paris , Paris, France.
Kathryn MillerAlbany Medical Center, New York, NY, USA.
Katherine NeasGenetic Health Service New Zealand, Wellington, New Zealand.
Ruth Newbury-EcobUniversity Hospitals Bristol NHS Trust/University of Bristol, Bristol, UK.ORCID https://orcid.org/0000-0003-4226-8569
Daniela T PilzWest of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital,, Glasgow, UK.
Renata PosmykDepartment of Clinical Genetics, Podlaskie Medical Center, Bialystok, Poland.
Carlos PradaDepartment of Pediatrics, University of Cincinnati, College of Medicine, Division of Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Keri RamseyCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
Linda M RandolphDivision of Medical Genetics, Children's Hospital Los Angeles, University of Southern California/ Keck School of Medicine, Los Angeles, CA, USA.
Angelo SelicorniUOC Pediatria ASST Laraina, Como, Italy.
Deborah ShearsOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Mohnish SuriNottingham Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.
I Karen TempleHuman Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southhampton, UK.
Peter TurnpennyPeninsula Clinical Genetics, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.ORCID https://orcid.org/0000-0002-5947-0897
Lionel Val MaldergemCentre de Génétique Humaine and Integrative and Cognitive Neuroscience Research Unit EA481, Besançon, Besançon, France.ORCID https://orcid.org/0000-0001-8880-5214
Vinod VargheseInstitute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Hermine E Veenstra-KnolDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
Naomi YachelevichClinical Genetics Services, New York University Hospitals Center, New York University, New York, NY, USA.
Laura YatesTeesside Genetics Unit, The James Cook University Hospital, Middlesbrough, UK.
Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study
Deciphering Developmental Disorders (DDD) Study
Nazneen RahmanDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.ORCID https://orcid.org/0000-0003-4376-0440
University of British Columbia · CAUniversity of Southampton · GBCincinnati Children's Hospital Medical Center · USGreat Ormond Street Hospital · GBJames Cook University Hospital · GBLeiden University · NLRadboud University Nijmegen · NLAlbany Medical Center Hospital · USAssistance Publique – Hôpitaux de Paris · FRBioCruces Health research Institute · ESChapel Allerton Hospital · GBCopenhagen University Hospital · DKGovernment of Western Australia Department of Health · AUInnsbruck Medical University · ATInserm · FRInstitut des Sciences Cognitives Marc Jeannerod · FRInstitute of Cancer Research · GBIpse de Bruggen · NLKU Leuven · BEMedical University of Białystok · PL
Funding
Department of Health RP-2016-07-011Wellcome Trust
Abstract
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous
Indexed as
DNMT3Aintellectual disabilityovergrowthTatton-Brown-Rahman
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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.