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

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Title: Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Authors: Rots D; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia., Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Yamada A; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan., Levy M; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Ruiterkamp-Versteeg M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kummeling J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kasri NN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Venselaar H; Department of Medical BioSciences, Radboudumc, Nijmegen, the Netherlands., Alders M; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Elffers B; Cordaan, Amsterdam, the Netherlands; Department of Medical Care for Patients with Intellectual Disability, AMSTA, Amsterdam, the Netherlands., van Beeck Calkoen R; Cordaan, Amsterdam, the Netherlands., Hofman S; Evean Oostergouw, Zaandam, the Netherlands., Smith A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Valenzuela MI; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Maystadt I; Institut de Pathologie et de Génétique Centre de Génétique Humaineavenue G. Lemaître, 256041 Gosselies, Belgium., Piscopo C; Medical and Laboratory Unit, Antonio cardarelli Hospital, via A.Cardarelli 9, 80131 Naples, Italy., Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples, Naples, Italy; Laboratory of Regulatory and Functional Genomics, fondazione IRCCS casa sollievo della sofferenza, san giovanni rotondo, Foggia, Italy., Balasubramanian M; Division of Clinical Medicine, University of Sheffield, Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Pasquier L; Reference Center for Rare Diseases, Hôpital Sud - CHU Rennes, Rennes, France., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Donnai D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Weisberg D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Strobl-Wildemann G; MVZ Humangenetik Ulm, Ulm, Germany., Wagemans A; Maasveld, Koraal, Maastricht, the Netherlands; Department of Family Medicine, Faculty of Health, Medicine and Life Science, Maastricht University, Maastricht, the Netherlands., Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Baralle D; Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, UK., Foulds N; Wessex Regional Genetics Services, UHS NHS Foundation Trust, Southampton, United Kingdom., Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., van Hagen JM; Amsterdam UMC Location Vrije Universiteit Amsterdam, Department of Human Genetics, Amsterdam, the Netherlands., Bijlsma EK; Department of Clinical Genetica, Leiden University Medical Center, Leiden, the Netherlands., Hakonen AH; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Courage C; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Genevieve D; Université Montpellier, Unité INSERM U1183, Montpellier, France; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France., Pinson L; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France., Forzano F; Clinical Genetics Department 7th Floor Borough WingGuy's Hospital, Guy's & St Thomas' NHS Foundation TrustGreat Maze Pond, London, UK., Deshpande C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Kluskens ML; Prinsenstichting, Purmerend, the Netherlands., Welling L; Prinsenstichting, Purmerend, the Netherlands., Plomp AS; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands., Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Kalsner L; Department of Pediatrics, Division of Neurology, Connecticut Children's, University of Connecticut, Farmington, CT, USA., Hol JA; Clinical Genetics Department, Erasmus Medical Centre, Rotterdam, the Netherlands., Putoux A; Hospices Civils de Lyon, Service de Génétique - Centre de Référence Anomalies du Développement, Bron, France; Centre de Recherche en Neurosciences de Lyon, Équipe GENDEV, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., Lazier J; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK., Ames E; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA., O'Shea J; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA., Lederer D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Fleischer J; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA., O'Connor M; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA., Pauly M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Kiraly-Borri C; Genetic Health Western Australia, Department of Health King Edward Memorial Hospital, Subiaco, WA 6008, Australia., Bouman A; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Barnett C; Paediatric and Reproductive Genetics Unit 8th Floor, Clarence Rieger Building Women's and Children's Hospital, 72 King William Road North, Adelaide, SA 5006, Australia., Nezarati M; Genetics, North York General Hospital, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada., Borch L; Department of Medical Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands., Özcan K; Neurodevelopmental Treatment Association Çocuk Fizyoterapistleri Derneği Bobath Terapistleri Derneği, Ankara, Turkey., Miot S; Geriatrics department, Montpellier University Hospital, MUSE University, Montpellier, France; INSERM U1298, INM, Montpellier, France., Volker-Touw CML; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Via Pansini 5, Naples, Italy; TIGEM (Telethon Institute of Genetics and Medicine), Via Campi Flegrei 34, 80078 Pozzuoli (NA), Italy., Janssens K; Department of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Wilrijk, Belgium., Mor N; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel., Shomer I; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel., Dominissini D; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv, Israel., Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA., Muir AM; GeneDx Inc., Gaithersburg, MD 20877, USA., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., Shinkai Y; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan. Electronic address: yshinkai@riken.jp., Kleefstra T; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.
Source: American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1605-1625. Date of Electronic Publication: 2024 Jul 15.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Rots+D%22">Rots D</searchLink>; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.<br /><searchLink fieldCode="AU" term="%22Bouman+A%22">Bouman A</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Yamada+A%22">Yamada A</searchLink>; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Levy+M%22">Levy M</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Dingemans+AJM%22">Dingemans AJM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+BBA%22">de Vries BBA</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ruiterkamp-Versteeg+M%22">Ruiterkamp-Versteeg M</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Leeuw+N%22">de Leeuw N</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ockeloen+CW%22">Ockeloen CW</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Boer+E%22">de Boer E</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kummeling+J%22">Kummeling J</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Bon+B%22">van Bon B</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Bokhoven+H%22">van Bokhoven H</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kasri+NN%22">Kasri NN</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Venselaar+H%22">Venselaar H</searchLink>; Department of Medical BioSciences, Radboudumc, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Alders+M%22">Alders M</searchLink>; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kerkhof+J%22">Kerkhof J</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22McConkey+H%22">McConkey H</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Kuechler+A%22">Kuechler A</searchLink>; Institute of Human Genetics, University Hospital Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Elffers+B%22">Elffers B</searchLink>; Cordaan, Amsterdam, the Netherlands; Department of Medical Care for Patients with Intellectual Disability, AMSTA, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Beeck+Calkoen+R%22">van Beeck Calkoen R</searchLink>; Cordaan, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hofman+S%22">Hofman S</searchLink>; Evean Oostergouw, Zaandam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Smith+A%22">Smith A</searchLink>; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Valenzuela+MI%22">Valenzuela MI</searchLink>; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Srivastava+S%22">Srivastava S</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Frazier+Z%22">Frazier Z</searchLink>; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Maystadt+I%22">Maystadt I</searchLink>; Institut de Pathologie et de Génétique Centre de Génétique Humaineavenue G. Lemaître, 256041 Gosselies, Belgium.<br /><searchLink fieldCode="AU" term="%22Piscopo+C%22">Piscopo C</searchLink>; Medical and Laboratory Unit, Antonio cardarelli Hospital, via A.Cardarelli 9, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Merla+G%22">Merla G</searchLink>; Department of Molecular Medicine and Medical Biotechnology, University of Naples, Naples, Italy; Laboratory of Regulatory and Functional Genomics, fondazione IRCCS casa sollievo della sofferenza, san giovanni rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Balasubramanian+M%22">Balasubramanian M</searchLink>; Division of Clinical Medicine, University of Sheffield, Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Santen+GWE%22">Santen GWE</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Metcalfe+K%22">Metcalfe K</searchLink>; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Park+SM%22">Park SM</searchLink>; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Pasquier+L%22">Pasquier L</searchLink>; Reference Center for Rare Diseases, Hôpital Sud - CHU Rennes, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Banka+S%22">Banka S</searchLink>; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Donnai+D%22">Donnai D</searchLink>; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Weisberg+D%22">Weisberg D</searchLink>; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Strobl-Wildemann+G%22">Strobl-Wildemann G</searchLink>; MVZ Humangenetik Ulm, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Wagemans+A%22">Wagemans A</searchLink>; Maasveld, Koraal, Maastricht, the Netherlands; Department of Family Medicine, Faculty of Health, Medicine and Life Science, Maastricht University, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vreeburg+M%22">Vreeburg M</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Baralle+D%22">Baralle D</searchLink>; Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, UK.<br /><searchLink fieldCode="AU" term="%22Foulds+N%22">Foulds N</searchLink>; Wessex Regional Genetics Services, UHS NHS Foundation Trust, Southampton, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Scurr+I%22">Scurr I</searchLink>; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Brunetti-Pierri+N%22">Brunetti-Pierri N</searchLink>; Department of Translational Medicine, Federico II University of Naples, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22van+Hagen+JM%22">van Hagen JM</searchLink>; Amsterdam UMC Location Vrije Universiteit Amsterdam, Department of Human Genetics, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Bijlsma+EK%22">Bijlsma EK</searchLink>; Department of Clinical Genetica, Leiden University Medical Center, Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hakonen+AH%22">Hakonen AH</searchLink>; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Courage+C%22">Courage C</searchLink>; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Genevieve+D%22">Genevieve D</searchLink>; Université Montpellier, Unité INSERM U1183, Montpellier, France; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Pinson+L%22">Pinson L</searchLink>; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Forzano+F%22">Forzano F</searchLink>; Clinical Genetics Department 7th Floor Borough WingGuy's Hospital, Guy's & St Thomas' NHS Foundation TrustGreat Maze Pond, London, UK.<br /><searchLink fieldCode="AU" term="%22Deshpande+C%22">Deshpande C</searchLink>; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Kluskens+ML%22">Kluskens ML</searchLink>; Prinsenstichting, Purmerend, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Welling+L%22">Welling L</searchLink>; Prinsenstichting, Purmerend, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Plomp+AS%22">Plomp AS</searchLink>; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vanhoutte+EK%22">Vanhoutte EK</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kalsner+L%22">Kalsner L</searchLink>; Department of Pediatrics, Division of Neurology, Connecticut Children's, University of Connecticut, Farmington, CT, USA.<br /><searchLink fieldCode="AU" term="%22Hol+JA%22">Hol JA</searchLink>; Clinical Genetics Department, Erasmus Medical Centre, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Putoux+A%22">Putoux A</searchLink>; Hospices Civils de Lyon, Service de Génétique - Centre de Référence Anomalies du Développement, Bron, France; Centre de Recherche en Neurosciences de Lyon, Équipe GENDEV, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Lazier+J%22">Lazier J</searchLink>; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Vasudevan+P%22">Vasudevan P</searchLink>; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK.<br /><searchLink fieldCode="AU" term="%22Ames+E%22">Ames E</searchLink>; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22O'Shea+J%22">O'Shea J</searchLink>; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22Lederer+D%22">Lederer D</searchLink>; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.<br /><searchLink fieldCode="AU" term="%22Fleischer+J%22">Fleischer J</searchLink>; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA.<br /><searchLink fieldCode="AU" term="%22O'Connor+M%22">O'Connor M</searchLink>; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA.<br /><searchLink fieldCode="AU" term="%22Pauly+M%22">Pauly M</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Vasileiou+G%22">Vasileiou G</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Reis+A%22">Reis A</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Kiraly-Borri+C%22">Kiraly-Borri C</searchLink>; Genetic Health Western Australia, Department of Health King Edward Memorial Hospital, Subiaco, WA 6008, Australia.<br /><searchLink fieldCode="AU" term="%22Bouman+A%22">Bouman A</searchLink>; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Barnett+C%22">Barnett C</searchLink>; Paediatric and Reproductive Genetics Unit 8th Floor, Clarence Rieger Building Women's and Children's Hospital, 72 King William Road North, Adelaide, SA 5006, Australia.<br /><searchLink fieldCode="AU" term="%22Nezarati+M%22">Nezarati M</searchLink>; Genetics, North York General Hospital, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Borch+L%22">Borch L</searchLink>; Department of Medical Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Beunders+G%22">Beunders G</searchLink>; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Özcan+K%22">Özcan K</searchLink>; Neurodevelopmental Treatment Association Çocuk Fizyoterapistleri Derneği Bobath Terapistleri Derneği, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Miot+S%22">Miot S</searchLink>; Geriatrics department, Montpellier University Hospital, MUSE University, Montpellier, France; INSERM U1298, INM, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Volker-Touw+CML%22">Volker-Touw CML</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Gassen+KLI%22">van Gassen KLI</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Cappuccio+G%22">Cappuccio G</searchLink>; Department of Translational Medicine, Section of Pediatrics, Federico II University, Via Pansini 5, Naples, Italy; TIGEM (Telethon Institute of Genetics and Medicine), Via Campi Flegrei 34, 80078 Pozzuoli (NA), Italy.<br /><searchLink fieldCode="AU" term="%22Janssens+K%22">Janssens K</searchLink>; Department of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Wilrijk, Belgium.<br /><searchLink fieldCode="AU" term="%22Mor+N%22">Mor N</searchLink>; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Shomer+I%22">Shomer I</searchLink>; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Dominissini+D%22">Dominissini D</searchLink>; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Tedder+ML%22">Tedder ML</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Muir+AM%22">Muir AM</searchLink>; GeneDx Inc., Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Sadikovic+B%22">Sadikovic B</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Brunner+HG%22">Brunner HG</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vissers+LELM%22">Vissers LELM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Shinkai+Y%22">Shinkai Y</searchLink>; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan. Electronic address: yshinkai@riken.jp.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.
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  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1605-1625. <i>Date of Electronic Publication: </i>2024 Jul 15.
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  Data: Journal Article; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.ajhg.2024.06.008
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        Text: English
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      – TitleFull: Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
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