ArticleInternational journal of molecular sciences2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for
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Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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0cells of the map it votes in
13citing papers in PubMed
2.6field-weighted citation impact, top 10% of its field
What it found
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Who cites it
13 citing papers in PubMed, 15 citations in OpenAlex.
- Wiedemann-Steiner Syndrome (WSS): A Neonatal Case Report Expanding the Phenotypic Spectrum of a Previously Reported Missense Variant.International journal of molecular sciences · 2026Review
- Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.Clinical epigenetics · 2026Article
- Revisiting Wiedemann-Steiner Syndrome: NovelBalkan medical journal · 2026Article
- Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing.Genome medicine · 2026Article
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.Nature communications · 2024Article
- Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.European journal of human genetics : EJHG · 2024Article
- Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report.Frontiers in genetics · 2024Article
- Danon Disease: EntireGenes · 2023Review
- Epigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder.Molecular psychiatry · 2023Review
- DNA methylation differences in monozygotic twins with Van der Woude syndrome.Frontiers in dental medicine · 2023Article
- Article
- Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics.Frontiers in genetics · 2022Review
Corrections and comments
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Authors and funding
31 authors at 17 institutions in 4 countries.
Aidin ForoutanDepartment of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.ORCID 0000-0003-3021-7377
Sadegheh HaghshenasDepartment of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.ORCID 0000-0002-0400-2578
Pratibha BhaiVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Michael A LevyVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Jennifer KerkhofVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.ORCID 0000-0003-1245-6606
Haley McConkeyVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Marcello NicetaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.ORCID 0000-0003-4766-7753
Andrea CiolfiGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Lucia PedaceDepartment of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Evelina MieleDepartment of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.ORCID 0000-0002-4747-1032
David GenevieveMedical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1183-Institute for Regenerative Medicine and Biotherapy, Montpellier University, Centre Hospitalier Universitaire de Montpellier, 34090 Montpellier, France.
Solveig HeideDepartment of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France.
Mariëlle AldersDepartment of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Giuseppe ZampinoCenter for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
Giuseppe MerlaDepartment of Molecular Medicine and Medical Biotechnology, Università di Napoli "Federico II", 80131 Naples, Italy.ORCID 0000-0001-5078-928X
Mélanie FradinService de Génétique, CHU de Rennes, 35203 Rennes, France.
Eric BiethMedical Genetics Department, University of Angers, CHU Angers, 49000 Angers, France.
Dominique BonneauDepartment of genetics, CHU d'Angers, 49000 Angers, France and MitoVasc, UMR CNRS 6015-INSERM 1083, University of Angers, 49055 Angers, France.
Klaus DieterichCHU Grenoble Alpes, Inserm, U1209, Institute of Advanced Biosciences, Université Grenoble Alpes, 38000 Grenoble, France.ORCID 0000-0002-4362-4062
Patricia FergelotMedical Genetics Department, Inserm U1211, Reference Center AD SOOR, AnDDI-RARE, Bordeaux University, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.
Elise SchaeferService de Génétique Médicale-Institut de Génétique Médicale d'Alsace-Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France.ORCID 0000-0003-1004-6814
Laurence FaivreInserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000 Dijon, France.
Antonio VitobelloInserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000 Dijon, France.ORCID 0000-0003-3717-8374
Silvia MaitzClinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, 20900 Monza, Italy.
Rita FischettoClinical Genetics Unit, Department of Pediatric Medicine, Giovanni XXIII Children's Hospital, 02115 Bari, Italy.
Cristina GervasiniMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.ORCID 0000-0002-1165-7935
Maria PiccioneDepartment of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, 90127 Palermo, Italy.
Ingrid van de LaarDepartment of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.ORCID 0000-0002-2523-1230
Marco TartagliaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.ORCID 0000-0001-7736-9672
Bekim SadikovicDepartment of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
Anne-Sophie LebreTeam Physiopathologie des Maladies Psychiatriques, GDR3557-Institut de Psychiatrie, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Université de Paris, 75006 Paris, France.ORCID 0000-0002-7519-9822
Inserm · FRBambino Gesù Children's Hospital · ITLondon Health Sciences Centre · CAWestern University · CAAmsterdam University Medical Centers · NLAzienda Ospedaliera San Gerardo · ITCasa Sollievo della Sofferenza · ITCentre Hospitalier Universitaire d'Angers · FRCentre Hospitalier Universitaire de Rennes · FRCentre National de la Recherche Scientifique · FRErasmus MC · NLHôpitaux Universitaires de Strasbourg · FROspedale Pediatrico Giovanni XXIII · ITSorbonne Université · FRUniversità Cattolica del Sacro Cuore · ITUniversity of Milan · ITUniversity of Palermo · IT
Funding
Italian Ministry of Health CCR-2017-23669081Italian Ministry of Health RCR-2020-23670068_001Italian Ministry of Health Ricerca Corrente 2021Italian Ministry of Research FOE 2019London Health Sciences Molecular Diagnostics Development Fund and Genome Canada Genomic Applications Partnership Program Grant Beyond Genomics: Assessing the Improvement in Diagnosis of Rare Diseases using Clinical Epigenomics in Canada, EpiSign-CAN
Abstract
Wiedemann-Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the
Indexed as
Abnormalities, MultipleIntellectual DisabilityCraniofacial AbnormalitiesDNADNA MethylationFaciesGrowth DisordersHumansHypertrichosisPhenotypeSyndromeDNADNA methylationepigeneticsepisignatureintellectual disabilityKMT2A geneneurodevelopmental disordersWiedemann–Steiner syndrome
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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.