학술논문


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'학술논문' 에서 검색결과 29건 | 목록 1~20
Editorial & Opinion
Finucane B; Geisinger Autism & Developmental Medicine Institute, Lewisburg, Pennsylvania, USA.; Myers SM; Geisinger Autism & Developmental Medicine Institute, Lewisburg, Pennsylvania, USA.; Challman TD; Geisinger Autism & Developmental Medicine Institute, Lewisburg, Pennsylvania, USA.; Martin CL; Geisinger Autism & Developmental Medicine Institute, Lewisburg, Pennsylvania, USA.; Ledbetter DH; Department of Psychiatry, University of Florida, Gainesville, Florida, USA.
Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101461858 Publication Model: Print Cited Medium: Internet ISSN: 1939-3806 (Electronic) Linking ISSN: 19393806 NLM ISO Abbreviation: Autism Res Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Lazar SM; Section of Pediatric Neurology and Developmental Neuroscience, Meyer Center for Developmental Pediatrics & Autism, Baylor College of Medicine - Texas Children's Hospital, 6701 Fannin Street Suite 1250, Houston, TX 77030, USA. Electronic address: Steven.Lazar@bcm.edu.; Challman TD; Geisinger Autism & Developmental Medicine Institute, Geisinger Commonwealth School of Medicine, 120 Hamm Drive, Suite 2A, Lewisburg, PA 17837, USA.; Myers SM; Geisinger Autism & Developmental Medicine Institute, Geisinger Commonwealth School of Medicine, 120 Hamm Drive, Suite 2A, Lewisburg, PA 17837, USA.
Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0401126 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-8240 (Electronic) Linking ISSN: 00313955 NLM ISO Abbreviation: Pediatr Clin North Am Subsets: MEDLINE
Academic Journal
Schirwani S; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.; Albaba S; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Carere DA; GeneDx, Inc, Gaithersburg, Maryland, USA.; Guillen Sacoto MJ; GeneDx, Inc, Gaithersburg, Maryland, USA.; Milan Zamora F; GeneDx, Inc, Gaithersburg, Maryland, USA.; Si Y; GeneDx, Inc, Gaithersburg, Maryland, USA.; Rabin R; Department of Pediatrics, New York University School of Medicine, New York, New York, USA.; Pappas J; Department of Pediatrics, New York University School of Medicine, New York, New York, USA.; Renaud DL; Division of Child and Adolescent Neurology, Departments of Neurology and Pediatrics, Mayo Clinic, Rochester, Minnesota, USA.; Hauser N; Department of Pediatrics, Division of Medical Genomics, Inova Health System, Falls Church, Virginia, USA.; Reid E; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.; Blanchet P; Département de Génétique Médicale, CHU de Montpellier, Montpellier, France.; Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Faculty of Medicine, University of Southampton, Southampton, UK.; Dixit A; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Fisher R; Teesside Genetics Unit, The James Cook University Hospital, Middlesbrough, UK.; Armstrong R; Departments of Medical Genetics and Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Isidor B; Service de génétique médicale, CHU Nantes, Nantes, France.; Cogne B; Service de génétique médicale, CHU Nantes, Nantes, France.; Schrier Vergano S; Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Demirdas S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Dykzeul N; Lucile Packard Children's Hospital, Stanford Children's Health, Palo Alto, California, USA.; Cohen JS; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Grand K; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Morel D; University of Miami, Miller School of Medicine, Miami, Florida, USA.; Slavotinek A; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, California, USA.; Albassam HF; Department of Pediatrics, Care National Hospital, Riyadh, Saudi Arabia.; Naik S; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK.; Dean J; Clinical Genetics Service, NHS Grampian, Aberdeen Royal Infirmary, Aberdeen, UK.; Ragge N; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK.; Costa C; Neurology Clinic, Department of Medicine, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy.; Tedesco MG; Medical Genetics Unit, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy.; Genetics Unit, 'Mauro Baschirotto' Institute for Rare Diseases (B.I.R.D.), Costozza di Longare, Vicenza, Italy.; Harrison RE; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Palen E; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA.; Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK.; Cunniff C; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, New York, USA.; Bergstrom K; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, New York, USA.; Walia JS; Divsion of Medical Genetics, Departments of Pediatrics, Queen's University, Kingston, Ontario, Canada.; Bruel AL; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Slegesky V; University of Colorado & Children's Hospital Colorado, Denver, Colorado, USA.; Meeks N; University of Colorado & Children's Hospital Colorado, Denver, Colorado, USA.; Girotto P; Division of Child Neurology, Department of Pediatrics, Santa Casa de São Paulo School of Medical Sciences, São Paulo, Brazil.; Johnson D; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; EDS National Diagnostic Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Newbury-Ecob R; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, UK.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Prontera P; Medical Genetics Unit, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy.; Lynch SA; Department of Clinical Genetics, Temple Street Children's Hospital, Dublin, Ireland.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Graham JM Jr; Cedars-Sinai Medical Center, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Pierson TM; Departments of Pediatrics, Neurology, Cedars-Sinai Center for the Undiagnosed Patient, and Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles CA, USA.; Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.
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
Academic Journal
Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.; Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, Tübingen, 72076, Germany.; Lau T; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Aldeen HS; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, London, UK.; Rocca C; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Noureldeen MM; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.; Saad AK; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.; Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Zifarelli G; Centogene GmbH, Rostock, Germany.; Gotkhindikar A; Bioinformatics Centre, S. P. Pune University, Pune, India.; Wentzensen IM; GeneDx, Gaithersburg, MD, 20877, USA.; Liao M; GeneDx, Gaithersburg, MD, 20877, USA.; Cork EE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Varshney P; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Mohammadi MH; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran.; Rad A; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, Tübingen, 72076, Germany.; Neira J; Department of Human Genetics, Emory University, Atlanta, GA, 30322, USA.; Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Knopp C; Institute for Human Genetics and Genomic Medicine, RWTH Aachen University, Pauwelsstr. 30, Aachen, 52074, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, RWTH Aachen University, Pauwelsstr. 30, Aachen, 52074, Germany.; Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Smith R; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Abdalla A; Department of Pediatric Endocrinology, Gaafar Ibn Auf Children's Tertiary Hospital, Khartoum, Sudan.; Haaf T; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.; Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Joshi M; Bioinformatics Centre, S. P. Pune University, Pune, India.; Chung WK; Department of Pediatrics, Boston Children's Hospitaland, Harvard Medical School , Boston, MA, USA.; Moreno-De-Luca A; Department of Diagnostic Radiology, Kingston Health Sciences Centre, Queen's University, Kingston, ON, Canada.; Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK. r.maroofian@ucl.ac.uk.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA. gaurav-varshney@omrf.org.
Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Academic Journal
Schalk A; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Cousin MA; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA.; Wain KE; Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA.; Powis Z; Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA.; Minks K; Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA.; Trimouille A; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Lasseaux E; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Lacombe D; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Angelini C; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Michaud V; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Van-Gils J; Département de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Spataro N; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain.; Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain.; Gabau E; Paediatric Unit, Parc Tauli Foundation-UAB University Institute, Sabadell, Catalunya, Spain.; Stolerman E; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Washington C; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Louie R; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Kemppainen JL; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Innes M; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada.; Kooy F; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; Meuwissen M; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Vera G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Diderich KEM; Erasmus Medical Center Department of Clinical Genetics, Rotterdam, Netherlands.; Sheidley B; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; El Achkar CM; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Park M; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Hamdan FF; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada.; Michaud JL; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada.; Lewis AJ; Pediatric Neurology, Kaiser Permanente Santa Clara Medical Center, Santa Clara, California, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital University Hospital Bern, Bern, BE, Switzerland.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Wagner M; Institute of Human Genetics, Technische Universitat Munchen, Munchen, Bayern, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munchen Deutsches Forschungszentrum fur Umwelt und Gesundheit, Neuherberg, Bayern, Germany.; Weigand H; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr von Hauner Children's Hospital, Munich University Hospital (Ludwig Maximilians University), Munchen, Bayern, Germany.; Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France.; Keren B; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France.; Passemard S; APHP, Hopital Universitaire Robert-Debre Departement de genetique, Paris, Île-de-France, France.; NeuroDiderot, UMR1141, INSERM, Paris, France.; Mignot C; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France.; van Gassen K; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands.; Brilstra EH; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands.; Itzikowitz G; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa.; O'Heir E; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute for Genome Research, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Allen J; Stanley Center for Psychiatric Research, Broad Institute Stanley Center for Psychiatric Research, Cambridge, Massachusetts, USA.; Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa.; Neuroscience Institute, University of Cape Town, Rondebosch, Western Cape, South Africa.; Korf BR; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Skelton T; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Thompson M; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; HudsonAlpha Institute, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.; Robin NH; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Rudy NL; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Dobyns WB; Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA.; Foss K; Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Bosanko KA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Alembik Y; Institut de génétique médicale d'Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Durand B; Institut de génétique médicale d'Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Tran Mau-Them F; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Ranza E; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland.; Blanc X; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland.; Antonarakis SE; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland.; McWalter K; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Torti E; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Millan F; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Dameron A; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Tokita M; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Klee EW; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Piton A; Neurogenetics and Translational Medecine, Institut of Genetics and Molecular and Cellular Biology, Illkirch-Grafenstaden, Grand Est, France piton@igbmc.fr.; Gerard B; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Academic Journal
Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Palen E; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Shuman D; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Finucane B; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Seeley A; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Myers SM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Martin CL; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat
Report
King MK; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA. maggie.king@novartis.com.; Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA. maggie.king@novartis.com.; Leipold E; Department of Biophysics, Center for Molecular Biomedicine, Friedrich Schiller University Jena & Jena University Hospital, 07745, Jena, Germany.; Goehringer JM; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.; Kurth I; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, 52074, Aachen, Germany.; Challman TD; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.
Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE
Academic Journal
Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Boerrigter MM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.; Gómez-Andrés D; Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Marcos-Alcalde Í; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.; Bioscience Research Institute, School of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Spain.; Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.; Everman DB; Greenwood Genetic Center, Greenwood, SC, USA.; Lovgren AK; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Arpin S; Service de génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.; Bahrambeigi V; Greenwood Genetic Center, Greenwood, SC, USA.; Graduate School of Biomedical Sciences, The University of Texas, MD Anderson Cancer Center UTHealth, Houston, TX, USA.; Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Bisgaard AM; Center for Rett syndrome, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark.; Bjerregaard VA; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Bruel AL; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; Challman TD; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA.; Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Coubes C; Département de Génétique Médicale, Maladies rares et Médecine personnalisée, CHU Montpellier, France.; de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands.; Denommé-Pichon AS; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; Dye TJ; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Elmslie F; South West Thames Regional Genetics Service, St George's University Hospitals, University of London, London, United Kingdom.; Feuk L; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.; García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.; Gertler T; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Giorgio E; Department of Medical Sciences, University of Turin, Torino, Italy.; Gruchy N; Service de Génétique, CHU Caen Clemenceau, Biotargen, Univ Caen, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC, USA.; Haukanes BI; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Soller MJ; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Kushary S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Kvarnung M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Landau YE; Leumit Health Care Services, Tel-Aviv, Israel.; Metabolic Disease Service, Schneider Children's Medical Center of Israel, Tel-Aviv, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA.; Lindstrand A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Kleinendorst L; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; MacKenzie A; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.; Mandrile G; Thalassemia Centre and Genetic Unit, San Luigi University Hospital, Orbassano, Italy.; Mendelsohn BA; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA, USA.; Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Morton JE; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham Women's Hospital, Birmingham, United Kingdom.; Moutton S; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France.; Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; O'Leary M; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pacio-Míguez M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.; Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.; Parikh S; Mitochondrial Medicine & Neurogenetics, Cleveland Clinic, Cleveland, OH, USA.; Pfundt R; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Repnikova E; Division of Clinical Laboratory Genetics & Genomics, Children's Mercy Hospital, Kansas City, MO, USA.; Revah-Politi A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NY, USA.; Ross MJ; Department of Pediatrics, Columbia University Medical Center, NewYork-Presbyterian Hospital, New York, NY, USA.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Sarrazin E; Centre de Référence des Maladies rares neuromusculaires AOC, Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique.; Savatt JM; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA.; Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Schönewolf-Greulich B; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Shad Z; Cook Children's Medical Center Genetics, Fort Worth, TX, USA.; Shaw-Smith C; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Shohat M; Bioinformatics unit, Cancer Research Center, Sheba Medical Center and Sackler Medical Center, Tel Aviv University and Maccabi HMO, Tel Aviv, Israel.; Spranger S; Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany.; Thiese H; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA.; Mau-Them FT; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van de Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Drie E; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; van Haelst MM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; van Ravenswaaij-Arts CM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Vitobello A; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Whiting S; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Prada CE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA.; Reiter SF; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Gómez-Puertas P; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.; Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.
Publisher: Elsevier 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: MEDLINE
Editorial & Opinion
Myers SM; Geisinger Autism & Developmental Medicine Institute, Danville, PA 17822, USA. Electronic address: smyers1@geisinger.edu.; Challman TD; Geisinger Autism & Developmental Medicine Institute, Danville, PA 17822, USA.; Martin CL; Geisinger Autism & Developmental Medicine Institute, Danville, PA 17822, USA.; Ledbetter DH; Geisinger Autism & Developmental Medicine Institute, Danville, PA 17822, USA.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Connaughton DM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Nephrology, Department of Medicine, University Hospital - London Health Sciences Centre, Schulich School of Medicine & Dentistry, Western University, 339 Windermere Road, London, ON N6A 5A5, Canada.; Dai R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China.; Owen DJ; Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.; Marquez J; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.; Mann N; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Graham-Paquin AL; Rosalind & Morris Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montréal, QC H3A 1A3, Canada.; Nakayama M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Coyaud E; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada; Univ. Lille, Inserm, CHU Lille, U1192 - Protéomique Réponse Inflammatoire Spectrométrie de Masse - PRISM, 59000 Lille, France.; Laurent EMN; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada; Univ. Lille, Inserm, CHU Lille, U1192 - Protéomique Réponse Inflammatoire Spectrométrie de Masse - PRISM, 59000 Lille, France.; St-Germain JR; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada.; Blok LS; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500HE Nijmegen, the Netherlands; Human Genetics Department, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.; Vino A; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands.; Klämbt V; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Deutsch K; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Wu CW; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Kause F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Ottlewski I; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Schneider R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Kitzler TM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Majmundar AJ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Buerger F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Onuchic-Whitford AC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Youying M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Kolb A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Salmanullah D; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Chen E; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; van der Ven AT; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Rao J; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China.; Ityel H; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Seltzsam S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Rieke JM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Chen J; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Vivante A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Tel Aviv University, Faculty of Medicine, Tel Aviv-Yafo 6997801, Israel.; Hwang DY; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Kohl S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Dworschak GC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Hermle T; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Alders M; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 Amsterdam, Netherlands.; Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany.; Bauer SB; Department of Urology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Baum MA; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Brilstra EH; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.; Challman TD; Geisinger, Autism & Developmental Medicine Institute, 100 N Academy Avenue, Danville, PA 17822, USA.; Zyskind J; Department of Clinical Genomics, GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.; Costin CE; Department of Clinical Genetics, Akron Children's Hospital, One Perkins Square, Akron, OH 44308, USA.; Dipple KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA.; Duijkers FA; Department of Clinical Genetics, University of Amsterdam, 1012 WX Amsterdam, the Netherlands.; Ferguson M; Department of Clinical Genetics, Harvey Institute for Human Genetics, 6701 Charles St, Towson, MD 21204, USA.; Fitzpatrick DR; MRC Institute of Genetics & Molecular Medicine, Royal Hospital for Sick Children, The University of Edinburgh, 2XU, Crewe Rd S, Edinburgh EH4 2XU, UK.; Fick R; Mary Bridge Childrens Hospital, 316 Martin Luther King JR Way, Tacoma, WA 98405, USA.; Glass IA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA.; Hulick PJ; Center for Medical Genetics, NorthShore University HealthSystem, 1000 Central Street, Suite 610, Evanston, IL 60201, USA.; Kline AD; Department of Clinical Genetics, Harvey Institute for Human Genetics, 6701 Charles St, Towson, MD 21204, USA.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany; Swiss Epilepsy Center, Klinik Lengg, Bleulerstrasse 60, 8000 Zürich, Switzerland.; Kumar S; Department of Pediatric Nephrology, Institute of Child Health and Hospital for Children, Tamil Salai, Egmore, Chennai, Tamil Nadu 600008, India.; Lu W; Renal Section, Department of Medicine, Boston University Medical Center, 650 Albany Street, Boston, MA 02118, USA.; Marco EJ; Cortica Healthcare, 4000 Civic Center Drive, Ste 100, San Rafael, CA 94939, USA.; Wentzensen IM; Department of Clinical Genomics, GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877, USA.; Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal- Straße 55, 04103 Leipzig, Germany.; Povolotskaya IS; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow 117997, Russia.; Savatt JM; Geisinger, Autism & Developmental Medicine Institute, 100 N Academy Avenue, Danville, PA 17822, USA.; Shcherbakova NV; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow 117997, Russia.; Senguttuvan P; Department of Pediatric Nephrology, Dr. Mehta's Multi-Specialty Hospital, No.2, Mc Nichols Rd, Chetpet, Chennai, Tamil Nadu 600031, India.; Squire AE; Seattle Children's Hospital, Department of Genetic Medicine, 4800 Sand Point Way NE, Seattle, WA 98105, USA.; Stein DR; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2401 Gillham Rd, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, 5000 Holmes St, Kansas City, MO 64110, USA.; Voinova VY; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow 117997, Russia.; Somers MJG; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Ferguson MA; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Traum AZ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Daouk GH; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Daga A; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Rodig NM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Terhal PA; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.; Eid LA; Pediatric Nephrology Department, Dubai Hospital, Dubai, United Arab Emirates.; Tasic V; Medical Faculty Skopje, University Children's Hospital, Skopje 1000, North Macedonia.; Rasouly HM; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA.; Lim TY; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA.; Ahram DF; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA.; Gharavi AG; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA.; Reutter HM; Institute of Human Genetics, University Hospital Bonn, 53127 Bonn, Germany; Section of Neonatology and Pediatric Intensive Care, Clinic for Pediatrics, University Hospital Bonn, Adenauerallee 119, 53313 Bonn, Germany.; Rehm HL; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA.; MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA.; Lek M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA.; Laricchia KM; Analytic and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA.; Lifton RP; The Rockefeller University, 1230 York Ave, New York, NY 10065, USA.; Xu H; Department of Nephrology, Children's Hospital of Fudan University, 201102 Shanghai, China.; Mane SM; Department of Genetics, Yale University School of Medicine, 333 Cedar St, New Haven, CT 06510, USA.; Sanna-Cherchi S; Division of Nephrology, Columbia University, 630 W 168th St, New York, NY 10032, USA.; Sharrocks AD; Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.; Raught B; Princess Margaret Cancer Centre, University Health Network & Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada.; Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500HE Nijmegen, the Netherlands.; Bouchard M; Rosalind & Morris Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montréal, QC H3A 1A3, Canada.; Khokha MK; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.; Shril S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Academic Journal
Myers SM; Geisinger Autism and Developmental Medicine Institute, Danville, PA 17822, USA. Electronic address: smyers1@geisinger.edu.; Challman TD; Geisinger Autism and Developmental Medicine Institute, Danville, PA 17822, USA.; Bernier R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.; Bourgeron T; Human Genetics and Cognitive Functions Unit, Institut Pasteur, UMR 3571 CNRS, Université de Paris, Paris, 75015, France.; Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.; Constantino JN; Department of Psychiatry, Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, St Louis, MO 63120, USA; Department of Pediatrics, Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, St Louis, MO 63120, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine and Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.; Jacquemont S; Sainte Justine Hospital Research Center, Department of Pediatrics, University of Montreal, Montreal, Quebec, H4A3J1, Canada.; Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Mitchell KJ; Smurfit Institute of Genetics, Trinity College Dublin, Dublin, D02PN40, Ireland; Institute of Neuroscience, Trinity College Dublin, Dublin, D02PN40, Ireland.; Zoghbi HY; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.; Martin CL; Geisinger Autism and Developmental Medicine Institute, Danville, PA 17822, USA.; Ledbetter DH; Geisinger Autism and Developmental Medicine Institute, Danville, PA 17822, USA. Electronic address: dhledbetter@geisinger.edu.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Academic Journal
Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.; Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.; Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.; Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.; Seeley A; Geisinger Medical Center, Danville, PA, USA.; Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.; Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.; Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.; Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.; Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.; Basel D; Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA.; Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.; Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.; Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.; Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.; Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.; Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.; Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.; Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.; Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.; McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.; Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.; Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.; Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.
Publisher: Elsevier 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: MEDLINE
Academic Journal
Challman TD; Department of Pediatric and Adolescent Medicine, Division of Developmental and Behavioral Pediatrics, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, USA. tdchallman@geisinger.edu; Barbaresi WJKatusic SKWeaver A
Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print Cited Medium: Print ISSN: 0162-3257 (Print) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE
Report
Finucane B; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, USA.; Martin CL; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, USA.; Ledbetter DH; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, USA.
Publisher: Elsevier 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: MEDLINE
Academic Journal
Myers SM; Neurodevelopmental Pediatrics, Geisinger Health System, Danville, Pennsylvania 17822-1339, USA. smyers1@geisinger.edu; Challman TDBock GH
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
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