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Tytuł :
A qualitative study of Latinx parents' experiences of clinical exome sequencing.
Autorzy :
Luksic D; Graduate School of Genetic Counseling, Sarah Lawrence College, Bronxville, NY, USA.
Sukhu R; Graduate School of Genetic Counseling, Sarah Lawrence College, Bronxville, NY, USA.
Koval C; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Cho MT; Graduate School of Genetic Counseling, Sarah Lawrence College, Bronxville, NY, USA.
Espinal A; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Rufino K; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Loarte TV; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Wynn J; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
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Źródło :
Journal of genetic counseling [J Genet Couns] 2020 Aug; Vol. 29 (4), pp. 574-586. Date of Electronic Publication: 2020 Apr 16.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Autorzy :
Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address: .
Kalvakuri S; Development, Aging and Regeneration Program, Sanford Burnham Prebys Medical Discovery Institute, 10901 North Torrey Pines Rd, La Jolla, CA 92037, USA.
de Boer E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Geuer S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Oud M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
van Outersterp I; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Kwint M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Witmond M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Kersten S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen the Netherlands.
Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; CAPES Foundation, Ministry of Education of Brazil, 70040-031 Brasília, Brazil.
Weijers D; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Begtrup A; GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.
McWalter K; GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.
Ruiz A; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Barcelona, Spain.
Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, 08208 Sabadell, Barcelona, Spain.
Morton JEV; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Edgbaston B15 2TG, UK.
Griffith C; Department of Pediatrics, University of South Florida, Tampa, FL 33606, USA.
Weiss K; The Genetics Institute, Rambam Health Care Center, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Gamble C; Cook Children's, 801 7th Ave, Fort Worth, TX 76104, USA.
Bartley J; Pediatric Specialty Clinics, Loma Linda University, 11234 Anderson St., Loma Linda, CA 92354, USA.
Vernon HJ; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Brunet K; Porcupine Health Unit, 169 Pine St S, Timmins, ON P4N 2K3, Canada.
Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, the Netherlands.
Kant SG; Department of Clinical Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, the Netherlands.
Kruszka P; National Human Genome Research Institute, National Institutes of Health, 10 Center Dr, Bethesda, MD 20814, USA.
Larson A; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Afenjar A; CRMR malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Département de génétique, Sorbonne Université, AP-HP, Hôpital Trousseau, 75012 Paris, France.
Billette de Villemeur T; Children's Hospital of San Antonio, 333 N Santa Rosa St, San Antonio, TX 78207, USA.
Nugent K; Children's Hospital of San Antonio, 333 N Santa Rosa St, San Antonio, TX 78207, USA.
Raymond FL; Department of Medical Genetics, University of Cambridge, CB2 0XY Cambridge, UK.
Venselaar H; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences (RIMLS), PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Demurger F; Centre Hospitalier Bretagne Atlantique, 20 Boulevard Général Maurice Guillaudot, BP 70555, 56017 Vannes Cedex, France.
Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA.
Bhoj E; Center for Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA.
Hayes I; Genetic Health Service New Zealand, 2 Park Road, Grafton, Auckland 1023, New Zealand.
Hamilton NP; Department of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, 1522 Simpson Road East, Ann Arbor, MI 48109-5718, USA.
Ahmad A; Department of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, 1522 Simpson Road East, Ann Arbor, MI 48109-5718, USA.
Fisher R; Department of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, 1522 Simpson Road East, Ann Arbor, MI 48109-5718, USA.
van den Born M; Department for Clinical Genetics, Erasmus MC, Postbus 2040, 3000 CA Rotterdam, the Netherlands.
Willems M; Centre Hospitalier Universitaire de Montpellier, 191 av. du Doyen Giraud, 34295 Montpellier Cedex 5, France.
Sorlin A; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 2 Boulevard du Maréchal de Lattre de Tassigny, 21000 Dijon, France.
Delanne J; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 2 Boulevard du Maréchal de Lattre de Tassigny, 21000 Dijon, France.
Moutton S; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, 33401 Talence, France.
Christophe P; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 rue Paul Gaffarel, BP 77908, 21079 Dijon, France.
Mau-Them FT; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 rue Paul Gaffarel, BP 77908, 21079 Dijon, France.
Vitobello A; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 rue Paul Gaffarel, BP 77908, 21079 Dijon, France.
Goel H; Hunter Genetics, Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia.
Massingham L; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI 02905, USA.
Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI 02905, USA.
Schwab J; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI 02905, USA.
Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.
Charles P; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.
Vreeburg M; Department of Clinical Genetics, Maastricht UMC+, Postbus 5800, 6202 AZ Maastricht, the Netherlands.
De Simone L; UIC Pediatric Genetics, 840 South Wood Street, Chicago, IL 60612, USA.
Hoganson G; UIC Pediatric Genetics, 840 South Wood Street, Chicago, IL 60612, USA.
Iascone M; Laboratorio di genetica Medica, ASST Papa Giovanni XXIII, Bergamo 24127, Italy.
Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatric Highly Intensive Care Unit, Milan, 20122, Italy.
Evenepoel L; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium.
Revencu N; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium.
Ward DI; Sanford Health 1600 W. 22th St, Sioux Falls, SD 57105, USA.
Burns K; Sanford Health 1600 W. 22th St, Sioux Falls, SD 57105, USA.
Krantz I; The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Raible SE; The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Murrell JR; The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Wood K; The Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Cho MT; GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.
van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Muenke M; The Genetics Institute, Rambam Health Care Center, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
Bodmer R; Development, Aging and Regeneration Program, Sanford Burnham Prebys Medical Discovery Institute, 10901 North Torrey Pines Rd, La Jolla, CA 92037, USA. Electronic address: .
de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
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Corporate Authors :
DDD Study; Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Jul 02; Vol. 107 (1), pp. 164-172. Date of Electronic Publication: 2020 Jun 17.
Typ publikacji :
Journal Article
Journal Info :
Publisher: University of Chicago 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: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Autorzy :
Castilla-Vallmanya L; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, Universitat de Barcelona; CIBERER, IRSJD, Barcelona, Spain.
Selmer KK; Department of Research and Innovation, Division of Clinical Neuroscience, Oslo University Hospital and the University of Oslo, Oslo, Norway.; The National Center for Epilepsy, Oslo University Hospital, Oslo, Norway.
Dimartino C; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Rabionet R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, Universitat de Barcelona; CIBERER, IRSJD, Barcelona, Spain.
Blanco-Sánchez B; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Yang S; GeneDx, Gaithersburg, MD, USA.
Reijnders MRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
van Essen AJ; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Oufadem M; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Vigeland MD; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Stadheim B; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Cox H; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Kingston H; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Academic Health Sciences Centre, Manchester, UK.; Division of Evolution and Genomic Sciences, University of Manchester, School of Biological Sciences, Manchester, UK.
Clayton-Smith J; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Academic Health Sciences Centre, Manchester, UK.; Division of Evolution and Genomic Sciences, University of Manchester, School of Biological Sciences, Manchester, UK.
Innis JW; Departments of Human Genetics, Pediatrics and Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Iascone M; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Gabbiadini S; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA.
Sanders V; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Charrow J; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Bryant E; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Millichap J; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Vitobello A; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR1231 GAD, Dijon, France.
Thauvin C; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Reference maladies rares 'Anomalies du Developpement et syndrome malformatifs' de l'Est, Centre de Genetique, Hopital d'Enfants, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Mau-Them FT; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR1231 GAD, Dijon, France.
Faivre L; INSERM UMR1231 GAD, Dijon, France.; Centre de Reference maladies rares 'Anomalies du Developpement et syndrome malformatifs' de l'Est, Centre de Genetique, Hopital d'Enfants, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Lesca G; Department of Medical Genetics, Lyon Hospices Civils, Lyon, France.; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Lyon, France.
Labalme A; Department of Medical Genetics, Lyon Hospices Civils, Lyon, France.
Rougeot C; Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Bron, France.
Chatron N; Department of Medical Genetics, Lyon Hospices Civils, Lyon, France.; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Lyon, France.
Sanlaville D; Department of Medical Genetics, Lyon Hospices Civils, Lyon, France.; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Lyon, France.
Christensen KM; Saint Louis University School of Medicine, St. Louis, MO, USA.
Kirby A; Saint Louis University School of Medicine, St. Louis, MO, USA.
Lewandowski R; Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA, USA.
Gannaway R; Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA, USA.
Aly M; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Lehman A; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.
Clarke L; Department of Medical Genetics, The University of British Columbia, Vancouver, BC, Canada.
Graul-Neumann L; Institute of Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany.
Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Lozic B; Department of Pediatrics, University Hospital Centre Split; University of Split, School of medicine, Split, Croatia.
Aukrust I; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Peretz R; Driscoll Children's Hospital, Corpus Christi, TX, USA.
Stratton R; Driscoll Children's Hospital, Corpus Christi, TX, USA.
Smol T; Institut de Génétique Médicale, CHU Lille, Lille, France.; Université de Lille, EA 7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, Lille, France.
Dieux-Coëslier A; Institut de Génétique Médicale, CHU Lille, Lille, France.
Meira J; Division of Medical Genetics, University Hospital Professor Edgard Santos/ Federal University of Bahia (UFBA), Salvador, Bahia, Brazil.
Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
Beaver EM; Mercy Kids Genetics, Mercy Children's Hospital, St. Louis, MO, USA.
Heeley J; Mercy Kids Genetics, Mercy Children's Hospital, St. Louis, MO, USA.
Briere LC; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.
High FA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.
Sweetser DA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.
Walker MA; Department of Pediatric Neurology, Massachusetts General Hospital for Children, Boston, MA, USA.
Keegan CE; Departments of Human Genetics, Pediatrics and Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.
Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Kerstjens-Frederikse WS; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Earl DL; Seattle Children's Hospital, Seattle, WA, USA.
Siu VM; University of Western Ontario, London, ON, Canada.
Reesor E; University of Western Ontario, London, ON, Canada.
Yao T; University of Western Ontario, London, ON, Canada.
Hegele RA; University of Western Ontario, London, ON, Canada.
Vaske OM; Department of Molecular, Cell and Developmental Biology, University of California Santa Cruz, Santa Cruz, CA, USA.
Rego S; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Shapiro KA; Cortica Healthcare, San Diego, CA, USA.
Wong B; Cortica Healthcare, San Diego, CA, USA.
Gambello MJ; Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, GA, USA.
McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Karlowicz D; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Colombo R; Faculty of Medicine, Catholic University, IRCCS Policlinico Gemelli, Rome, Italy.; Center for the Study of Rare Hereditary Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
Serretti A; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Wray A; Royal Children's Hospital, Melbourne, Australia.
Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Christodoulou J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Slavotinek A; Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
Barbouth D; Dr John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA.
Morel Swols D; Dr John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA.
Parisot M; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker INSERM UMR1163, Paris, France.; INSERM US24/CNRS UMS3633, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
Bole-Feysot C; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker INSERM UMR1163, Paris, France.; INSERM US24/CNRS UMS3633, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
Nitschké P; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Bioinformatics Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
Pingault V; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
Munnich A; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
Cho MT; GeneDx, Gaithersburg, MD, USA.
Cormier-Daire V; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, Paris, France.
Balcells S; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, Universitat de Barcelona; CIBERER, IRSJD, Barcelona, Spain.
Lyonnet S; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
Grinberg D; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, Universitat de Barcelona; CIBERER, IRSJD, Barcelona, Spain.
Amiel J; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.
Urreizti R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, Universitat de Barcelona; CIBERER, IRSJD, Barcelona, Spain.
Gordon CT; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France. .; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France. .
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Corporate Authors :
Undiagnosed Diseases Network, Care4Rare Canada Consortium
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jul; Vol. 22 (7), pp. 1215-1226. Date of Electronic Publication: 2020 May 07.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Autorzy :
Schmidt JL; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Pizzino A; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Nicholl J; Lurie Children's Hospital, Chicago, Illinois, USA.
Foley A; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Wang Y; Department of Molecular & Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, Texas, USA.
Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, Texas, USA.
Mighion L; EGL Genetics, Tucker, Georgia, USA.
Bean L; EGL Genetics, Tucker, Georgia, USA.
da Silva C; EGL Genetics, Tucker, Georgia, USA.
Cho MT; GeneDx, Gaithersburg, Maryland, USA.
Truty R; Invitae, San Francisco, California, USA.
Garcia J; Invitae, San Francisco, California, USA.
Speare V; Ambry Genetics, Aliso Viejo, California, USA.
Blanco K; Ambry Genetics, Aliso Viejo, California, USA.
Powis Z; Ambry Genetics, Aliso Viejo, California, USA.
Hobson GM; Nemours/Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.
Kirwin S; Nemours/Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.
Krock B; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Lee H; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA.; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.
Deignan JL; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA.
Westemeyer MA; Natera Inc., San Carlos, California, USA.
Subaran RL; CooperGenomics, Livingston, New Jersey, USA.
Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
Tsai EA; Biogen, Cambridge, Massachusetts, USA.
Fang T; Biogen, Cambridge, Massachusetts, USA.
Helman G; Murdoch Children' Research Institute, The Royal Children's Hospital, Parkville, Australia.; Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.
Vanderver A; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jun 23. Date of Electronic Publication: 2020 Jun 23.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am. J. Med. Genet. A Subsets: MEDLINE
Czasopismo naukowe
Tytuł :
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Autorzy :
Kummeling J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Stremmelaar DE; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Raun N; Department of Biochemistry and Molecular Biology, Dalhousie University, Halifax, NS, Canada.; Department of Physiology and Pharmacology, The University of Western Ontario, London, ON, Canada.
Reijnders MRF; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6229 ER, Maastricht, The Netherlands.
Willemsen MH; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Ruiterkamp-Versteeg M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Schepens M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Man CCO; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Gilissen C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Cho MT; GeneDx, Gaithersburg, MD, 20877, USA.
McWalter K; GeneDx, Gaithersburg, MD, 20877, USA.
Sinnema M; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6229 ER, Maastricht, The Netherlands.
Wheless JW; Division of Pediatric Neurology, University of Tennessee Health Science Center, Memphis, TN, USA.; Neuroscience Institute & Le Bonheur Comprehensive Epilepsy Program, Le Bonheur Children's Hospital, Memphis, TN, USA.
Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Genetti CA; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
Casey AM; Division of Pulmonary and Respiratory Diseases, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland.
Bahr A; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland.
Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland.
Keller E; Division of Neuropediatrics, Cantonal Hospital Graubuenden, Chur, Switzerland.
Raas-Rothschild A; Institute of Rare Disease, Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Agrawal PB; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
Hoffman TL; Regional Department of Genetics, Southern California Kaiser Permanente Medical Group, 1188N. Euclid Street, Anaheim, CA, 92801, USA.
Powell-Hamilton NN; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USA.; Department of Pathology and Laboratory Medicine, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.; Division of Clinical Genetics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
Engleman K; Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
Zhou D; Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
Bodamer O; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Tasic V; Medical School Skopje, University Children's Hospital, Skopje, North Macedonia.
Schubert D; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Top D; Department of Pediatrics, Dalhousie University, Halifax, NS, Canada.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Higgs MR; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK.
Kramer JM; Department of Biochemistry and Molecular Biology, Dalhousie University, Halifax, NS, Canada.; Department of Physiology and Pharmacology, The University of Western Ontario, London, ON, Canada.
Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. .
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Źródło :
Molecular psychiatry [Mol Psychiatry] 2020 Apr 28. Date of Electronic Publication: 2020 Apr 28.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol. Psychiatry Subsets: MEDLINE
Czasopismo naukowe
Tytuł :
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
Autorzy :
Li L; Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.
Ghorbani M; Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.
Weisz-Hubshman M; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Rousseau J; Paediatric Department, CHU Sainte-Justine Hospital, University of Montreal, Quebec, Canada.
Thiffault I; Center for Pediatric Genomic Medicine & Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Faculty of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA.
Schnur RE; Division of Genetics, Cooper University Health Care, Camden, New Jersey, USA.; GeneDx, Gaithersburg, Maryland, USA.
Breen C; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Manchester, United Kingdom.
Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
Weiss MM; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.
Waisfisz Q; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.
Welner S; Division of Pediatric Medical Genetics, The State University of New Jersey, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
Kingston H; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Manchester, United Kingdom.
Hills JA; University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Boon EM; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.
Basel-Salmon L; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel.
Konen O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Imaging Department, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Goldberg-Stern H; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Epilepsy Unit and EEG Laboratory, Schneider Medical Center, Petach Tikva, Israel.
Bazak L; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Tzur S; Laboratory of Molecular Medicine, Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel.; Genomic Research Department, Emedgene Technologies, Tel Aviv, Israel.
Jin J; Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.; Research Center for Bone and Stem Cells, Department of Human Anatomy, Key Laboratory of Aging & Disease, Nanjing Medical University, Nanjing, Jiangsu, China.
Bi X; Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.
Bruccoleri M; Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.
McWalter K; GeneDx, Gaithersburg, Maryland, USA.
Cho MT; GeneDx, Gaithersburg, Maryland, USA.
Scarano M; Division of Genetics, Cooper University Health Care, Camden, New Jersey, USA.
Schaefer GB; University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Brooks SS; Division of Pediatric Medical Genetics, The State University of New Jersey, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
Hughes SS; Center for Pediatric Genomic Medicine & Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Faculty of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA.
van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
van Hagen JM; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.
Pandita TK; Department of Radiation Oncology, Houston Methodist Research Institute, Houston, Texas, USA.
Agrawal PB; Divisions of Newborn Medicine and Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Campeau PM; Paediatric Department, CHU Sainte-Justine Hospital, University of Montreal, Quebec, Canada.
Yang XJ; Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.; Departments of Biochemistry and Medicine, McGill University Health Center, Montreal, Quebec, Canada.
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Źródło :
The Journal of clinical investigation [J Clin Invest] 2020 Mar 02; Vol. 130 (3), pp. 1431-1445.
Typ publikacji :
Journal Article
Journal Info :
Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J. Clin. Invest. Subsets: In Process; Core Clinical (AIM); MEDLINE
Czasopismo naukowe
Tytuł :
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.
Autorzy :
Yan K; Rosalind and Morris Goodman Cancer Research Center, McGill University, Montreal, Quebec H3A 1A3, Canada.; Department of Medicine, McGill University, Montreal, Quebec H3A 1A3, Canada.
Rousseau J; Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Quebec H3T 1C5, Canada.
Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Texas Children's Hospital, 6701 Fannin Street, Houston, TX 77030, USA.
Cross LA; Center for Pediatric Genomic Medicine and Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Gibson CF; Trillium Health Partners, Credit Valley Hospital, Genetics Program, 2200 Eglinton Ave. W, Mississauga, Ontario L5M 2N1, Canada.
Goverde A; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, Netherlands.
Engleman KL; Center for Pediatric Genomic Medicine and Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Verdin H; Center for Medical Genetics, Ghent University and Ghent University Hospital, C. Heymanslaan 10, B-9000 Ghent, Belgium.
De Baere E; Center for Medical Genetics, Ghent University and Ghent University Hospital, C. Heymanslaan 10, B-9000 Ghent, Belgium.
Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Texas Children's Hospital, 6701 Fannin Street, Houston, TX 77030, USA.
Zhou D; Center for Pediatric Genomic Medicine and Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Cadieux-Dion M; Center for Pediatric Genomic Medicine and Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Bellus GA; Clinical Genetics and Genomic Medicine, Geisinger, 100 N. Academy Ave., Danville, PA 17822, USA.
Wagner MD; Autism and Developmental Medicine Institute, Geisinger, 120 Hamm Dr., Lewisburg, PA 17837, USA.
Hale RJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Esber N; KAT6A Foundation, 3 Louise Dr., West Nyack, NY 10994, USA.
Riley AF; Texas Children's Hospital, 6651 Main Street Legacy Tower, 21st Floor Houston, TX 77030, USA.
Solomon BD; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Eyal R; Kaiser Oakland Medical Center 3600 Broadway, Oakland, CA 94611, USA.
Hainlen MK; Center for Pediatric Genomic Medicine and Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Mendelsohn BA; Kaiser Oakland Medical Center 3600 Broadway, Oakland, CA 94611, USA.
Porter HM; Department of Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, 111 Michigan Avenue NW, Washington, DC 20010, USA.
Lanpher BC; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Texas Children's Hospital, 6701 Fannin Street, Houston, TX 77030, USA.
Savatt J; Autism and Developmental Medicine Institute, Geisinger, 120 Hamm Dr., Lewisburg, PA 17837, USA.
Thiffault I; Center for Pediatric Genomic Medicine and Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Faculty of Medicine, University of Missouri Kansas City, Kansas City, MO 64110, USA.
Callewaert B; Center for Medical Genetics, Ghent University and Ghent University Hospital, C. Heymanslaan 10, B-9000 Ghent, Belgium.
Campeau PM; Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Quebec H3T 1C5, Canada.
Yang XJ; Rosalind and Morris Goodman Cancer Research Center, McGill University, Montreal, Quebec H3A 1A3, Canada.; Department of Medicine, McGill University, Montreal, Quebec H3A 1A3, Canada.; Department of Biochemistry, McGill University, Montreal, Quebec H3A 1A3, Canada.; McGill University Health Center, Montreal, Quebec H3A 1A3, Canada.
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Źródło :
Science advances [Sci Adv] 2020 Jan 22; Vol. 6 (4), pp. eaax0021. Date of Electronic Publication: 2020 Jan 22 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: eCollection Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Autorzy :
Mak CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Doherty D; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Lin AE; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.
Vegas N; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Cho MT; GeneDx, Gaithersburg, MD, USA.
Viot G; Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
Dimartino C; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Weisfeld-Adams JD; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA.
Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
Li C; McMaster University Medical Center, Hamilton, Ontario, Canada.
Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Troyer C; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA.
Kant SG; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.
Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
Ishak GE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Radiology, University of Washington, Seattle, WA, USA.
Leung G; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Barone Pritchard A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Yang S; GeneDx, Gaithersburg, MD, USA.
Bend EG; Greenwood Genetic Center, Greenwood, SC, USA.; PreventionGenetics, Marshfield, WI, USA.
Filippini F; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Roadhouse C; McMaster University Medical Center, Hamilton, Ontario, Canada.
Lebrun N; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.
Mehaffey MG; Department of Pediatrics, University of Washington, Seattle, WA, USA.
Martin PM; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
Apple B; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA.
Millan F; GeneDx, Gaithersburg, MD, USA.
Puk O; Praxis für Humangenetik Tübingen, Tübingen, Germany.
Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.
Henderson LB; GeneDx, Gaithersburg, MD, USA.
McGowan R; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
Wentzensen IM; GeneDx, Gaithersburg, MD, USA.
Pei S; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Zahir FR; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Yu M; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Gibson WT; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Seman A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Steeves M; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.
Murrell JR; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Luettgen S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Francisco E; eviCore healthcare, Bluffton, SC, USA.
Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany.
Amlie-Wolf L; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Kaindl AM; Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany.
Wilson WG; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA.
Halbach S; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel.
Lev-El N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Vissers LELM; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands.
Radtke K; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA.
Chelly J; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France.
Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA.
Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA.
Reid RR; Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA.
Devriendt K; Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA.
McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Powis Z; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA.
Bienvenu T; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France.
Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia.
Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA.
Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Waggoner D; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Gripp KW; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK.
Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Lyonnet S; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Cormier-Daire V; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
Viskochil D; Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.
Hoffman TL; Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.
Amiel J; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Gordon CT; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
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Corporate Authors :
University of Washington Center for Mendelian Genomics
Źródło :
Brain : a journal of neurology [Brain] 2020 Jan 01; Vol. 143 (1), pp. 55-68.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: In Process; Core Clinical (AIM); MEDLINE
Czasopismo naukowe
Tytuł :
Impact of patient education videos on genetic counseling outcomes after exome sequencing.
Autorzy :
Hernan R; Sarah Lawrence College, Joan H. Marks Graduate Program in Human Genetics, Bronxville, NY, USA; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Cho MT; Sarah Lawrence College, Joan H. Marks Graduate Program in Human Genetics, Bronxville, NY, USA; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.
Wilson AL; Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, NY, USA.
Ahimaz P; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Au C; Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, NY, USA.
Berger SM; Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, NY, USA.
Guzman E; Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, NY, USA.
Primiano M; Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, NY, USA.
Shaw JE; Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, NY, USA.
Ross M; Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, NY, USA.
Tabanfar L; Division of Clinical Genetics, Department of Pediatrics, New York Presbyterian Hospital, Columbia University, New York, NY, USA.
Chilton I; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Griffin E; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Ratner C; Long Island University, LIU Post Genetic Counseling Graduate Program, Brookville, NY, USA.
Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Iglesias A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Pisani L; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Roohi J; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Duong J; Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, USA.
Martinez J; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Appelbaum P; Department of Psychiatry, Columbia University Irving Medical Center and NY State Psychiatric Institute, New York, NY, USA.
Klitzman R; G.H. Sergievsky Center and Departments of Epidemiology and Neurology, Columbia University Irving Medical Center, and NY State Psychiatric Institute, New York, NY, USA.
Ottman R; G.H. Sergievsky Center and Departments of Epidemiology and Neurology, Columbia University Irving Medical Center, and NY State Psychiatric Institute, New York, NY, USA.
Chung WK; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Wynn J; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA. Electronic address: .
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Źródło :
Patient education and counseling [Patient Educ Couns] 2020 Jan; Vol. 103 (1), pp. 127-135. Date of Electronic Publication: 2019 Aug 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info :
Publisher: Elsevier Country of Publication: Ireland NLM ID: 8406280 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5134 (Electronic) Linking ISSN: 07383991 NLM ISO Abbreviation: Patient Educ Couns Subsets: In Process; Nursing
Czasopismo naukowe
Tytuł :
Evolving Roles of Genetic Counselors in the Clinical Laboratory.
Autorzy :
Cho MT; National Human Genome Research Institute, Bethesda, Maryland 20894, USA.
Guy C; Quest Diagnostics, Secaucus, New Jersey 07094, USA.
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Źródło :
Cold Spring Harbor perspectives in medicine [Cold Spring Harb Perspect Med] 2019 Sep 30. Date of Electronic Publication: 2019 Sep 30.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101571139 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2157-1422 (Electronic) Linking ISSN: 21571422 NLM ISO Abbreviation: Cold Spring Harb Perspect Med Subsets: MEDLINE
Czasopismo naukowe
Tytuł :
Redefining the Etiologic Landscape of Cerebellar Malformations.
Autorzy :
Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Thomson Z; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.
Bennett JT; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.
Rosenberg AB; Department of Electrical Engineering, University of Washington, Seattle, WA 98105, USA.
Roco CM; Department of Bioengineering, University of Washington, Seattle, WA 98105, USA.
Hirano M; Department of Electrical Engineering, University of Washington, Seattle, WA 98105, USA.
Abidi F; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Haldipur P; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Cheng CV; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Collins S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Park K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Zeiger J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Overmann LM; Institute of Genetic Medicine, Newcastle University, International Centre for life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, 11211, Saudi Arabia.
Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892 USA.
Braddock SR; Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.
Cathey S; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Cho MT; GeneDx, Gaithersburg, MD 20877, USA.
Chung BHY; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Everman DB; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, 72202, USA.
Jones JR; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Schwartz CE; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; The Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.
Hopkin RJ; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
Krantz ID; The Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA; Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA.
Ladda RL; Department of Pediatrics, Milton S Hershey Medical Center, Hershey, PA 17033, USA; Departments of Pathology, Milton S Hershey Medical Center, Hershey, PA 17033, USA.
Leppig KA; Genetic Services, Kaiser Permanente Washington, Seattle, WA 98112, USA.
McGillivray BC; Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, Vancouver, BC V6H 3N1, Canada.
Sell S; Department of Pediatrics, Milton S Hershey Medical Center, Hershey, PA 17033, USA.
Wusik K; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; University of Washington Center for Mendelian Genomics, Seattle, WA 98195, USA.
Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; University of Washington Center for Mendelian Genomics, Seattle, WA 98195, USA.
Gerrelli D; University College London Institute of Child Health, London WC1N 1EH, UK.
Lisgo SN; Institute of Genetic Medicine, Newcastle University, International Centre for life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Seelig G; Department of Electrical Engineering, University of Washington, Seattle, WA 98105, USA; Paul G. Allen School of Computer Science & Engineering, University of Washington, Seattle, WA 98195, USA.
Ishak GE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Radiology, University of Washington, Seattle, WA 98195, USA.
Barkovich AJ; Departments of Radiology, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, CA 94143, USA.
Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco, Fresno, CA, 93701, USA.
Glass IA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.
Millen KJ; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.
Doherty D; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.
Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Neurology, University of Washington, Seattle, WA 98105, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2019 Sep 05; Vol. 105 (3), pp. 606-615. Date of Electronic Publication: 2019 Aug 29.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: University of Chicago 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
MeSH Terms :
Cerebellum/*abnormalities
Cerebellum/diagnostic imaging ; Cohort Studies ; Female ; Humans ; Male ; Pregnancy
Czasopismo naukowe
Tytuł :
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Autorzy :
Le Duc D; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
Giulivi C; Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, CA, USA.; MIND Institute, University of California Davis, Sacramento, CA, USA.
Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, USA.
Napoli E; Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, CA, USA.
Panoutsopoulos A; Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA.; Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children, Sacramento, CA, USA.
Harlan De Crescenzo A; Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA.; Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children, Sacramento, CA, USA.
Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany.
Syrbe S; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany.
Anagnostou E; Bloorview Research Institute, University of Toronto, Toronto, Canada.
Azage M; Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA, USA.
Bend R; Greenwood Genetic Center, Greenwood, SC, USA.
Begtrup A; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
Brown NJ; Department of Pediatrics, University of Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Parkville, VIC, Australia.
Büttner B; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
Cho MT; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
Cooper GM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, USA.
Doering JH; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany.
Dubourg C; Service de Génétique Moléculaire et Génomique, CHU, Rennes, F-35033, France.; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, F-35000, France.
Everman DB; Greenwood Genetic Center, Greenwood, SC, USA.
Hildebrand MS; Department of Pediatrics, University of Melbourne, VIC, Australia.; Epilepsy Research Centre, Austin Health, Heidelberg, VIC, Australia.
Santos FJR; Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
Kellam B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.
Keller-Ramey J; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
Lemke JR; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
Liu S; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
Niyazov D; Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA, USA.
Payne K; Riley Hospital for Children, Indianapolis, IN, USA.
Person R; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
Quélin C; Service de Génétique Clinique, CHU, Rennes, F-35203, France.
Schnur RE; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
Smith BT; Greenwood Genetic Center, Greenwood, SC, USA.
Strober J; UCSF Benioff Children's Hospital, San Francisco, CA, USA.
Walker S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.
Wallis M; Austin Health Clinical Genetics Service, Heidelberg, VIC, Australia.; Department of Medicine, University of Melbourne, Parkville, VIC, Australia.
Walsh L; Riley Hospital for Children, Indianapolis, IN, USA.
Yang S; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
Yuen RKC; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Ziegler A; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany.
Sticht H; Institute of Biochemistry, Emil-Fischer-Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Pride MC; MIND Institute, University of California Davis, Sacramento, CA, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis, Davis, CA, USA.
Orosco L; Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA.; Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children, Sacramento, CA, USA.
Martínez-Cerdeño V; MIND Institute, University of California Davis, Sacramento, CA, USA.; Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA.; Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children, Sacramento, CA, USA.
Silverman JL; MIND Institute, University of California Davis, Sacramento, CA, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis, Davis, CA, USA.
Crawley JN; MIND Institute, University of California Davis, Sacramento, CA, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis, Davis, CA, USA.
Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.; McLaughlin Centre, University of Toronto, Toronto, ON, Canada.
Zarbalis KS; MIND Institute, University of California Davis, Sacramento, CA, USA.; Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA.; Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children, Sacramento, CA, USA.
Jamra R; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
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Źródło :
Brain : a journal of neurology [Brain] 2019 Sep 01; Vol. 142 (9), pp. 2617-2630.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Adaptor Proteins, Signal Transducing/*genetics
Autophagy-Related Proteins/*genetics
Brain/*embryology
Brain/*pathology
Genetic Variation/*genetics
Neurodevelopmental Disorders/*genetics
Neurodevelopmental Disorders/*pathology
Adaptor Proteins, Signal Transducing/chemistry ; Adolescent ; Animals ; Autophagy-Related Proteins/chemistry ; Child ; Child, Preschool ; Female ; Humans ; Male ; Mice ; Mice, Transgenic ; Organ Size ; Protein Structure, Secondary
Czasopismo naukowe
Tytuł :
PD-1 Blockade in a Liver Transplant Recipient With Microsatellite Unstable Metastatic Colorectal Cancer and Hepatic Impairment.
Autorzy :
Chen JA; Department of Hematology and Oncology, University of California, Davis, Sacramento.
Esteghamat N; Department of Hematology and Oncology, University of California, Davis, Sacramento.
Kim EJ; Department of Hematology and Oncology, University of California, Davis, Sacramento.
Garcia G; Department of Gastroenterology and Hepatology, Stanford University, Stanford.
Gong J; Department of Medical Oncology, Cedars-Sinai Medical Center, Los Angeles, and.
Fakih MG; Department of Medical Oncology & Therapeutics Research, City of Hope, Duarte, California.
Bold RJ; Department of Hematology and Oncology, University of California, Davis, Sacramento.
Cho MT; Department of Hematology and Oncology, University of California, Davis, Sacramento.
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Źródło :
Journal of the National Comprehensive Cancer Network : JNCCN [J Natl Compr Canc Netw] 2019 Sep 01; Vol. 17 (9), pp. 1026-1030.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Harborside Press Country of Publication: United States NLM ID: 101162515 Publication Model: Print Cited Medium: Internet ISSN: 1540-1413 (Electronic) Linking ISSN: 15401405 NLM ISO Abbreviation: J Natl Compr Canc Netw Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Autorzy :
Dines JN; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
Golden-Grant K; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
LaCroix A; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Muir AM; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Cintrón DL; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
McWalter K; GeneDx, Gaithersburg, Maryland, USA.
Cho MT; GeneDx, Gaithersburg, Maryland, USA.
Sun A; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Merritt JL; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Thies J; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
Niyazov D; Division of Medical Genetics, Ochsner Health System and University of Queensland, Brisbane, Australia.
Burton B; Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg SOM, Chicago, Illinois, USA.
Kim K; Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg SOM, Chicago, Illinois, USA.
Fleming L; Genetics and Metabolic Clinic, St. Luke's Children's Hospital System, Boise, Idaho, USA.
Westman R; Genetics and Metabolic Clinic, St. Luke's Children's Hospital System, Boise, Idaho, USA.
Karachunski P; Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.
Dalton J; Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.
Basinger A; Cook's Children Genetic Center, Fort Worth, Texas, USA.
Ficicioglu C; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neuropediatrics, Universitätsklinikum Schleswig Holstein Campus Kiel, Kiel, Germany.
Pendziwiat M; Department of Neuropediatrics, Universitätsklinikum Schleswig Holstein Campus Kiel, Kiel, Germany.
Muhle H; Department of Neuropediatrics, Universitätsklinikum Schleswig Holstein Campus Kiel, Kiel, Germany.
Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Caliebe A; Institute for Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel, Kiel, Germany.
Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Becker K; Department of Neuropediatrics, Universitätsklinikum Schleswig Holstein Campus Kiel, Kiel, Germany.
Suchy S; GeneDx, Gaithersburg, Maryland, USA.
Douglas G; GeneDx, Gaithersburg, Maryland, USA.
Millan F; GeneDx, Gaithersburg, Maryland, USA.
Begtrup A; GeneDx, Gaithersburg, Maryland, USA.
Monaghan KG; GeneDx, Gaithersburg, Maryland, USA.
Mefford HC; Department of Pediatrics, University of Washington, Seattle, Washington, USA. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Aug; Vol. 21 (8), pp. 1899.
Typ publikacji :
Published Erratum
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: PubMed not MEDLINE; MEDLINE
Tytuł :
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Autorzy :
Salpietro V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', 16147, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
Dixon CL; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Guo H; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.
Bello OD; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Vandrovcova J; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Heimer G; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.
Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012, Paris, France.
Valence S; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Service de Neurologie Pédiatrique, APHP, Hôpital Trousseau, 75012, Paris, France.
Torti E; GeneDx, Gaithersburg, MD, 20877, USA.
Hacke M; Biochemistry Center, Heidelberg University, D-69120, Heidelberg, Germany.
Rankin J; Royal Devon and Exeter NHS Foundation Trust, Exeter, EX1 2ED, UK.
Tariq H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Colin E; Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France.; MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France.
Procaccio V; Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France.; MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France.
Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', 16147, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
Mankad K; Great Ormond Street Hospital for Children, London, WC1N 3JH, UK.
Lieb A; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Chen S; Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA.
Pisani L; Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA.
Bettencourt C; Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, WC1N 1PJ, UK.
Männikkö R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Manole A; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Brusco A; Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy.
Grosso E; Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy.
Ferrero GB; Department of Public Health and Pediatrics, University of Torino, 10126, Torino, Italy.
Armstrong-Moron J; Unit of Medical and Molecular Genetics, University Hospital Sant Joan de Deu Barcelona, 08950, Barcelona, Spain.
Gueden S; Unit of Neuropediatrics, University Hospital, Angers Cedex, 49933, France.
Bar-Yosef O; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.
Tzadok M; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.
Monaghan KG; GeneDx, Gaithersburg, MD, 20877, USA.
Santiago-Sim T; GeneDx, Gaithersburg, MD, 20877, USA.
Person RE; GeneDx, Gaithersburg, MD, 20877, USA.
Cho MT; GeneDx, Gaithersburg, MD, 20877, USA.
Willaert R; GeneDx, Gaithersburg, MD, 20877, USA.
Yoo Y; Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea.
Chae JH; Department of Pediatrics, Seoul National University, Seoul, 03080, South Korea.
Quan Y; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.
Wu H; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.
Bernier RA; Department of Psychiatry, University of Washington, Seattle, WA, 98195, USA.
Xia K; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.
Blesson A; Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA.
Jain M; Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA.
Motazacker MM; Department of Clinical Genetics, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, Netherlands.
Jaeger B; Department of Pediatric Neurology, Amsterdam UMC, 1105, Amsterdam, Netherlands.
Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia.
Boysen K; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia.
Muir AM; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.
Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA.
Gavrilova RH; Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.
Gunderson L; Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.
Schultz-Rogers L; Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.
Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.
Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada.
Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada.; Department of Human Genetics, McGill University Health Centre, Montréal, QC, H4A 3J1, Canada.; Genome Québec Innovation Center, Montréal, QC, H3A 0G1, Canada.
Parellada M; Child and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM, 28007, Madrid, Spain.
Llorente C; Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Maranon, Universidad Complutense, CIBERSAM, 28007, Madrid, Spain.
Gonzalez-Peñas J; Hospital Gregorio Maranon, IiSGM, School of Medicine, Calle Dr Esquerdo, 46, 28007, Madrid, Spain.
Carracedo A; Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, 15782, Santiago de Compostela, Spain.; Fundación Pública Galega de Medicina Xenómica- IDIS- Servicio Galego de Saúde (SERGAS), 15706, 15782, Santiago de Compostela, Spain.
Van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands.
Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands.
Nava C; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France.
Heron D; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France.
Nardello R; Department of Health Promotion,Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro', University of Palermo, 90133, Palermo, Italy.
Iacomino M; Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto 'Giannina Gaslini', 16147, Genova, Italy.
Minetti C; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', 16147, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
Skabar A; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', University of Trieste, 34134, Trieste, Italy.
Fabretto A; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', University of Trieste, 34134, Trieste, Italy.
Raspall-Chaure M; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain.
Chez M; Neuroscience Medical Group, 1625 Stockton Boulevard, Suite 104, Sacramento, CA, 95816, USA.
Tsai A; Department of Genetics and Inherited Metabolic diseases, Children's Hospital Colorado, Aurora, CO, 80045, USA.
Fassi E; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Shinawi M; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Constantino JN; William Greenleaf Eliot Division of Child & Adolescent Psychiatry, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
De Zorzi R; Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy.
Fortuna S; Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy.
Kok F; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo, 01308-000, Brazil.; Mendelics Genomic Analysis, Sao Paulo, SP, 04013-000, Brazil.
Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France.
Bonneau D; Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France.; MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France.
Choi M; Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea.
Benzeev B; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.
Zara F; Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto 'Giannina Gaslini', 16147, Genova, Italy.
Mefford HC; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.
Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia.
Clayton-Smith J; Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Lancashire, M13 9WL, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, M13 9WL, UK.
Macaya A; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain.
Rothman JE; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Cell Biology, Yale University School of Medicine, New Haven, CT, 06520, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA.
Kullmann DM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. .
Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. .
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Corporate Authors :
SYNAPS Study Group
Źródło :
Nature communications [Nat Commun] 2019 Jul 12; Vol. 10 (1), pp. 3094. Date of Electronic Publication: 2019 Jul 12.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Video-Audio Media
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
MeSH Terms :
Intellectual Disability/*genetics
Neurodevelopmental Disorders/*genetics
Receptors, AMPA/*genetics
Adolescent ; Adult ; Brain/diagnostic imaging ; Child ; Child, Preschool ; Cohort Studies ; Female ; Heterozygote ; Humans ; Infant ; Loss of Function Mutation ; Magnetic Resonance Imaging ; Male ; Neurodevelopmental Disorders/diagnostic imaging ; Young Adult
Czasopismo naukowe
Tytuł :
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Autorzy :
Okur V; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Cho MT; GeneDx, Gaithersburg, MD, USA.
van Wijk R; Department of Clinical Chemistry and Hematology, University Medical Center Utrecht, Utrecht, The Netherlands.
van Oirschot B; Department of Clinical Chemistry and Hematology, University Medical Center Utrecht, Utrecht, The Netherlands.
Picker J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Grange D; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Manwaring L; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Krantz I; Division of Human Genetics, Department of Pediatrics, Individualized Medical Genetics Center, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Muraresku CC; Division of Human Genetics, Department of Pediatrics, Individualized Medical Genetics Center, the Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Hulick PJ; Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA.
May H; Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA.
Pierce E; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Place E; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Bujakowska K; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Telegrafi A; GeneDx, Gaithersburg, MD, USA.
Douglas G; GeneDx, Gaithersburg, MD, USA.
Monaghan KG; GeneDx, Gaithersburg, MD, USA.
Begtrup A; GeneDx, Gaithersburg, MD, USA.
Wilson A; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Retterer K; GeneDx, Gaithersburg, MD, USA.
Anyane-Yeboa K; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Chung WK; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA. .; Department of Medicine, Columbia University Medical Center, New York, NY, USA. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Jul; Vol. 27 (7), pp. 1081-1089. Date of Electronic Publication: 2019 Feb 18.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Erythrocytes*/enzymology
Erythrocytes*/pathology
Hereditary Sensory and Motor Neuropathy*/enzymology
Hereditary Sensory and Motor Neuropathy*/genetics
Hereditary Sensory and Motor Neuropathy*/pathology
Hexokinase*/genetics
Hexokinase*/metabolism
Mutation, Missense*
Pedigree*
Adolescent ; Adult ; Child ; Female ; Humans ; Infant ; Male ; Retinitis Pigmentosa/enzymology ; Retinitis Pigmentosa/genetics ; Retinitis Pigmentosa/pathology
SCR Disease Name :
Neuropathy, hereditary motor and sensory, Russe type
Czasopismo naukowe

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