POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Autor: Symonds JD; Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, Glasgow, UK., Park KL; Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Aurora, Colorado, USA., Mignot C; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau, Sorbonne Université, Paris, France., Macleod S; Royal Hospital for Children, Glasgow, UK., Armstrong M; UCB Pharma, Braine l'Alleud, Belgium., Ashrafian H; Division of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, UK.; Department of Experimental Therapeutics, Radcliffe Department of Medicine, John Radcliffe Hospital, Oxford, UK., Bernard G; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada.; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Child Health and Human Development Program, Research, Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Brown K; Department of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Brunklaus A; Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, Glasgow, UK., Callaghan M; Department of Paediatrics, University Hospital Wishaw, Wishaw, UK., Classen G; Children's Center Bethel, University Bielefeld, Bielefeld, Germany., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Cutcutache I; UCB Pharma, Slough, UK., de Sainte Agathe JM; Department of Genetics, Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France., Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Elliot KS; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Isapof A; Service de Neuropédiatrie, Hôpital Trousseau, Sorbonne Université, Paris, France., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France., Marble M; Division of Pediatric Genetics, Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA., McTague A; Developmental Neurosciences. Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Page M; UCB Pharma, Slough, UK., Planes M; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Université Brest, Brest, France., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Université Brest, Brest, France., Reese J; Presbyterian Healthcare System, Albuquerque, New Mexico, USA., Saenz M; Department of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Smith-Hicks C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Stobo D; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Stockhaus C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Vuillaume ML; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; UMR 1253, iBrain, University of Tours, Tours, France.; Genetics Department, University of Tours, Tours, France., Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma's Children's Hospital, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Wakeling EL; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Yoon G; Departments of Paediatrics and Molecular Genetics, Hospital for Sick Children, Toronto, Ontario, Canada., Knight JC; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Zuberi SM; Paediatric Neurosciences Research Group, School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; Royal Hospital for Children, Glasgow, UK.

Publikováno v: Epilepsia [Epilepsia] 2024 Sep 30. Date of Electronic Publication: 2024 Sep 30.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Autor: Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Murthy H; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Zon J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Volpatti J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8EG, UK., Ellard S; Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK., Allen HL; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, CB2 0SL, UK., Yu EP; Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Noche R; Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Walker S; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Scherer SW; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Mahida S; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Elitt CM; Fetal-Neonatal Neurology Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France., Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France., Dabaj I; Department of Neonatology and Pediatric Intensive Care-Pediatric Neurology, Rouen University Hospital, and INSERM U1245, Normandie University, UNIROUEN, 76000 Rouen, France., Meddaugh H; Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA 70118, USA., Marble M; Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA 70118, USA.; Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA., Keppler-Noreuil KM; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 53792, USA., Drayson L; Pediatric Specialists of Virginia, Fairfax, VA 22031, USA., Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MA 21287, USA., Chassevent A; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MA 21205, USA., Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, NY 55905, USA., Létard P; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France., Bilan F; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; EA3808 NEUVACOD, University of Poitiers, 86073 Poitiers, France., Le Guyader G; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; EA3808 NEUVACOD, University of Poitiers, 86073 Poitiers, France., Laquerrière A; Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Normandie Univeristy, UNIROUEN, INSERM U1245 and Rouen University Hospital, F76000 Rouen, France., Ramsey K; Translational Genomics Research Institute, Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA., Henderson L; GeneDx, Gaithersburg, MD 20877, USA., Brady L; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada., Tarnopolsky M; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada., Bainbridge M; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92093, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA., Capri Y; Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP) Hôpital Robert Debré, 75019 Paris, France., Athayde L; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil., Kok F; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil., Gurgel-Giannetti J; Department of Pediatrics, Federal University of Minas Gerais School of Medicine, Belo Horizonte - MG - CEP 31270-901, Brazil., Ramos LLP; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil., Blaser S; Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Dowling JJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G1X8, Canada.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada., Weksberg R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada.; Institutes of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Jun 01; Vol. 146 (6), pp. 2285-2297.

M159 OMENN SYNDROME ASSOCIATED WITH DNA LIGASE 1

Autor: Matrana, D., Smith, E., Marble, M., Tran, L., Meddaugh, H., Heifner, A., McKernan, A., Wall, L.

Publikováno v: In Annals of Allergy, Asthma & Immunology November 2021 127(5) Supplement:S96-S96

In Search of Systemic Impact: The Cooperative Assistance Fund and Program-Related Investments.

Autor: Weber, Peter¹ (AUTHOR) pcw0015@auburn.edu

Publikováno v: Nonprofit Policy Forum. Sep2024, p1. 31p.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

Autor: Guillen Sacoto MJ; GeneDx, Inc., Gaithersburg, MD 20877, USA. Electronic address: mguillen@genedx.com., Tchasovnikarova IA; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Genetics, Harvard Medical School, Boston, MA 02114, USA., Torti E; GeneDx, Inc., Gaithersburg, MD 20877, USA., Forster C; GeneDx, Inc., Gaithersburg, MD 20877, USA., Andrew EH; Myelin Disorders Program, Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA., Anselm I; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., Baranano KW; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA., Briere LC; Department of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA 02114, USA., Cohen JS; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA; Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Cytrynbaum C; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Ekhilevitch N; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel., Elrick MJ; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA., Fatemi A; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA; Department of Neurology and Developmental Medicine, Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Fraser JL; Myelin Disorders Program, Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA., Gallagher RC; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA 94158, USA., Guerin A; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada., Haynes D; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., High FA; Department of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA 02114, USA., Inglese CN; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Kiss C; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada., Koenig MK; Department of Pediatrics, University of Texas McGovern Medical School, Houston, TX 77030, USA., Krier J; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Marble M; Department of Pediatrics, Division of Clinical Genetics and Metabolism, LSU Health Sciences Center and Children's Hospital, New Orleans, LA 70112, USA., Meddaugh H; Department of Clinical Genetics and Metabolism, Children's Hospital New Orleans, New Orleans, LA 70118, USA., Moran ES; Hassenfeld Children's Hospital at New York University Langone, New York University Langone Orthopedic Hospital, New York, NY 10003, USA., Morel CF; Fred A. Litwin Family Center in Genetic Medicine, University Health Network, Toronto, ON M5T 3L9, Canada; Department of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada., Mu W; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Muller EA 2nd; Clinical Genetics, Stanford Children's Health, San Francisco, CA 94109, USA., Nance J; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA; Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Natowicz MR; Institutes of Pathology and Laboratory Medicine and Genomic Medicine, Cleveland Clinic, Cleveland, OH 44195, USA., Numis AL; Department of Neurology and Pediatrics, University of California, San Francisco, San Francisco, CA 94158, USA., Ostrem B; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Pappas J; Clinical Genetic Services, Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA., Stafstrom CE; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Sweetser DA; Department of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA 02114, USA., Szybowska M; Fred A. Litwin Family Center in Genetic Medicine, University Health Network, Toronto, ON M5T 3L9, Canada., Walker MA; Department of Neurology, Division of Neurogenetics, Massachusetts General Hospital, Boston, MA 02114, USA., Wang W; GeneDx, Inc., Gaithersburg, MD 20877, USA., Weiss K; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel., Weksberg R; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics and Institute of Medical Science, University of Toronto, Toronto, ON M5G 1X8, Canada., Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Yoon G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Kingston RE; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Genetics, Harvard Medical School, Boston, MA 02114, USA., Juusola J; GeneDx, Inc., Gaithersburg, MD 20877, USA.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Aug 06; Vol. 107 (2), pp. 352-363. Date of Electronic Publication: 2020 Jul 20.