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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Beck, David B; Petracovici, Ana; He, Chongsheng; Moore, Hannah W; Louie, Raymond J; Ansar, Muhammad; Douzgou, Sofia; Sithambaram, Sivagamy; Cottrell, Trudie; Santos-Cortez, Regie Lyn P; Prijoles, Eloise J; Bend, Renee; Keren, Boris; Mignot, Cyril; Nougues, Marie-Christine; Õunap, Katrin; Reimand, Tiia; Pajusalu, Sander; Zahid, Muhammad; Saqib, Muhammad Arif Nadeem; Buratti, Julien; Seaby, Eleanor G; McWalter, Kirsty; Telegrafi, Aida; Baldridge, Dustin; Shinawi, Marwan; Leal, Suzanne M; Schaefer, G Bradley; Stevenson, Roger E; Banka, Siddharth; Bonasio, Roberto; Fahrner, Jill A.
Affiliation
  • Beck DB; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Petracovici A; Graduate Group in Genetics and Epigenetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Epigenetics Institute, University of Pen
  • He C; Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Current address: Hunan Key Laboratory of Plant Functional Gen
  • Moore HW; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320 Islamabad, Pakistan.
  • Douzgou S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester
  • Sithambaram S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.
  • Cottrell T; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.
  • Santos-Cortez RLP; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, CO 80045, USA.
  • Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Bend R; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Keren B; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Paris 75013, France.
  • Mignot C; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Paris 75013, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France.
  • Nougues MC; Assistance Publique-Hôpitaux de Paris, Armand Trousseau Hospital, Department of Neuropediatrics, Paris 75012, France.
  • Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.
  • Reimand T; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia; Chair of Human Genetics, Institute of Biomedicine and Translational Medicine, University
  • Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia; Yale University School of Medicine, Department of Genetics, New Haven, CT 06510, USA.
  • Zahid M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320 Islamabad, Pakistan.
  • Saqib MAN; Pakistan Health Research Council, 45320 Islamabad, Pakistan.
  • Buratti J; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Paris 75013, France.
  • Seaby EG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  • McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
  • Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
  • Baldridge D; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Leal SM; Center for Statistical Genetics, Gertrude H. Sergievsky Center, Taub Institute for Alzheimer's D disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, 630 W 168th St, New York, NY 10032, USA.
  • Schaefer GB; University of Arkansas for Medical Sciences, Lowell, AK 72745, USA.
  • Stevenson RE; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester
  • Bonasio R; Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
  • Fahrner JA; Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA. Electronic address: jfahrne1@jhmi.edu.
Am J Hum Genet ; 106(2): 234-245, 2020 02 06.
Article in En | MEDLINE | ID: mdl-31928709
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Dioxygenases / DNA Demethylation Limits: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2020 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Dioxygenases / DNA Demethylation Limits: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2020 Document type: Article Affiliation country: United States Country of publication: United States