Accès ouvert déclaré 2024 article

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael A. Levy, Alexander J.M. Dingemans, Bert B.A. de Vries, Martina Ruiterkamp‐Versteeg, Nicole de Leeuw, Charlotte W. Ockeloen, Rolph Pfundt, Elke de Boer, Joost Kummeling, Bregje W.M. van Bon, Hans van Bokhoven, Nael Nadif Kasri, Hanka Venselaar, Mariëlle Alders, Jennifer Kerkhof, Haley McConkey, Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman, Audrey Smith, Irene Valenzuela, Siddharth Srivastava, Zoë Frazier, Isabelle Maystadt, Carmelo Piscopo, Giuseppe Merla, Meena Balasubramanian, Gijs W.E. Santen, Kay Metcalfe, Soo‐Mi Park, Laurent Pasquier, Siddharth Banka, Dian Donnai, Daniel Weisberg, Gertrud Strobl‐Wildemann, Annemieke Wagemans, Maaike Vreeburg, Diana Baralle, Nicola Foulds, Ingrid Scurr, Nicola Brunetti‐Pierri, Johanna M. van Hagen, Emilia K. Bijlsma, Anna H. Hakonen, Carolina Courage, David Geneviève, Lucile Pinson, Francesca Forzano, Charu Deshpande, Maria L. Kluskens, Lindsey Welling, Astrid S. Plomp, Els K. Vanhoutte, Louisa Kalsner, Janna A. Hol, Audrey Putoux, Johanna Lazier, Pradeep Vasudevan, Elizabeth Ames, Jessica O'Shea, Damien Lederer, Julie Fleischer, Mary OʼConnor, M. Pauly, Georgia Vasileiou, André Reis, Cathy Kiraly‐Borri, Arjan Bouman, Chris Barnett, Marjan M. Nezarati, Lauren Borch, Gea Beunders, Kübra Özcan, Stéphanie Miot, Catharina M.L. Volker‐Touw, Koen L.I. van Gassen, Gerarda Cappuccio, Katrien Janssens, Nofar Mor, Inna Shomer, Dan Dominissini, Matthew L. Tedder, Alison M. Muir, Bekim Sadiković, Han G. Brunner, Lisenka E.L.M. Vissers, Yoichi Shinkai, Tjitske Kleefstra

21Citations signalées — pas une note de qualité

80Institutions déclarées

17Pays d’affiliation déclarés

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DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref: Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
Date Crossref: 01/08/2024
Éditeur: Elsevier BV
Type: journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude et ne compte pas comme une seconde source scientifique indépendante.

Institutions déclarées

Radboud University Nijmegen Erasmus MC Radboud University Medical Center Children's Clinical University Hospital Institute of Human Genetics Erasmus University Rotterdam Pioneer (Japan)RIKEN London Health Sciences Centre Amsterdam University Medical Centers University of Amsterdam Western University Essen University Hospital Amsterdam UMC Location University of Amsterdam Evean Manchester University NHS Foundation Trust St Mary's Hospital Vall d'Hebron Institut de Recerca Vall d'Hebron Hospital Universitari Boston Children's Hospital Harvard University Institute of Pathology and Genetics Ospedale Antonio Cardarelli Casa Sollievo della Sofferenza University of Naples Federico II Sheffield Children's NHS Foundation Trust University of Sheffield Leiden University Medical Center Cambridge University Hospitals NHS Foundation Trust Centre Hospitalier Universitaire de Rennes Manchester Academic Health Science Centre University of Manchester St Mary's Hospital Praxis für Humangenetik Maastricht University Medical Centre Maastricht University Department of Health University Hospital Southampton NHS Foundation Trust University Hospitals Bristol NHS Foundation Trust University Hospitals Bristol and Weston NHS Foundation Trust Scuola Superiore Meridionale Telethon Institute Of Genetics And Medicine Vrije Universiteit Amsterdam University of Helsinki Helsinki University Hospital Inserm Université de Montpellier Centre Hospitalier Universitaire de Montpellier ERN ITHACA Guy's Hospital Guy's and St Thomas' NHS Foundation Trust University of Connecticut Connecticut Children's Medical Center Lyon 1 Université Centre National de la Recherche Scientifique Centre de Recherche en Neurosciences de Lyon Hospices Civils de Lyon Children's Hospital of Eastern Ontario University Hospitals of Leicester NHS Trust Michigan Medicine C. S. Mott Children's Hospital SIU Medicine Friedrich-Alexander-Universität Erlangen-Nürnberg Universitätsklinikum Erlangen Comprehensive Cancer Center Erlangen Government of Western Australia Department of Health King Edward Memorial Hospital Women's and Children's Hospital University of Toronto North York General Hospital University Medical Center Groningen Psychiatric Association of Turkey University Medical Center Utrecht Federico II University Hospital University of Antwerp Antwerp University Hospital Sheba Medical Center Tel Aviv University Greenwood Genetic Center Vincent Van Gogh Voor Geestelijke Gezondheidszorg

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Sujets associés

Epigenetics and DNA MethylationCancer-related gene regulationGenetics and Neurodevelopmental Disorders

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