부산대학교 도서관

van, der Sluijs PJ; Gösgens, M; Dingemans, AJM; Striano, P; Riva, A; Mignot, C; Faudet, A; Vasileiou, G; Walther, M; Schrier, Vergano SA

GENETICS IN MEDICINE OPEN. 2:101873-101873

Schrier Vergano SA; Division of Genetic Medicine, Children's Hospital, Seattle, Washington, USA.; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE; In Process

Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.

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

O'Grady L; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; MGH Institute of Health Professions, Charlestown, Massachusetts, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughter, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Hoffman TL; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, California, USA.; Sarco D; Department of Neurology, Kaiser Permanente-Los Angeles Medical Center, Los Angeles, California, USA.; Cherny S; Division of Cardiology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.; Bryant E; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.; Schultz-Rogers L; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Chung WK; Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, New York, USA.; Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Immken LL; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Holder S; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Blackwell RR; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Buchanan C; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Yusupov R; Division of Pediatric Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.; Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.; Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; Santos Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Brown N; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Pais L; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Ferrer A; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Klee EW; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Babovic-Vuksanovic D; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Rhodes L; GeneDx, Inc., Gaithersburg, Maryland, USA.; Person R; GeneDx, Inc., Gaithersburg, Maryland, USA.; Begtrup A; GeneDx, Inc., Gaithersburg, Maryland, USA.; Keller-Ramey J; GeneDx, Inc., Gaithersburg, Maryland, USA.; Santiago-Sim T; GeneDx, Inc., Gaithersburg, Maryland, USA.; Schnur RE; GeneDx, Inc., Gaithersburg, Maryland, USA.; Sweetser DA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.

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

Gofin Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, United States.; Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.; Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, United States.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, United States.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong SAR.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, United States.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, United States.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA.

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

Alves CAPF; From the Division of Neuroradiology (C.A.P.F.A.) alvesc@chop.edu.; Sherbini O; Department of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; D'Arco F; Departments of Radiology (F.D.).; Steel D; Neurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.; Molecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK.; Kurian MA; Neurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.; Molecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK.; Radio FC; Genetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Ferrero GB; Department of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy.; Carli D; Department of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy.; Tartaglia M; Genetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Balci TB; MedicalGenetics Programof Southwestern Ontario (T.B.B.), London Health Sciences Centre, London, Ontario, Canada.; Department of Paediatrics (T.B.B.),Western University, London, Ontario, Canada.; Powell-Hamilton NN; Division of Medical Genetics (N.N.P.-H.), Nemours Childrenșs Hospital, Wilmington, Delaware.; Schrier Vergano SA; Division of Medical Genetics and Metabolism (S.A.S.V.), Childrenșs Hospital of The Kingșs Daughters, Norfolk, Virginia.; Department of Pediatrics (S.A.S.V.), Eastern Virginia Medical School, Norfolk, Virginia.; Reutter H; Division of Neonatology and Pediatric Intensive Care (H.R.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany.; Hoefele J; Institute of Human Genetics (J.H., R.G.).; Günthner R; Institute of Human Genetics (J.H., R.G.).; Department of Nephrology (R.G.), Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.; Roeder ER; Department of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas.; Littlejohn RO; Department of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas.; Lessel D; Institute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lüttgen S; Institute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kentros C; Division of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York.; Anyane-Yeboa K; Division of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York.; Catarino CB; Friedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.; Mercimek-Andrews S; Department of Medical Genetics (S.M.-A.), Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Department of Medical Genetics (S.M.-A.), The Hospital for Sick Children, Toronto, Ontario, Canada.; Denecke J; Department of Pediatrics (J.D.), University Medical Center Eppendorf, Hamburg, Germany.; Lyons MJ; Greenwood Genetic Center (M.J.L.), Greenwood, South Carolina.; Klopstock T; Friedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (T.K.), Munich, Germany.; Munich Cluster for Systems Neurology (T.K.), Munich, Germany.; Bhoj EJ; Department of Radiology, Division of Human Genetics (E.J.B., L.B.).; Bryant L; Department of Radiology, Division of Human Genetics (E.J.B., L.B.).; Vanderver A; Department of Pediatrics, and Division of Neurology (A.V.), Department of Pediatrics, Childrenșs Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE

Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; March ME; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Wang T; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Merengwa V; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Sertori Finoti L; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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

Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Downes H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Hou C; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Zackai EH; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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

Vasko A; Clinical Research Unit, Children's Hospital of the King's Daughters, Norfolk, VA, United States.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, United States.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, United States.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE

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

Vasko A; Clinical Research Unit, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA.; Drivas TG; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Genetics, The University of Pennsylvania, Philadelphia, PA 19104, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA 23507, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany. ulrike.hueffmeier@uk-erlangen.de.; Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.; Reuter MS; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.; Uebe S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.; Abbott MA; Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, MA, USA.; Ahmed SA; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, Riverside, CA, USA.; Rawson KL; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, Riverside, CA, USA.; Barr E; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Li H; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Bruel AL; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Faivre L; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Centre de Génétique, Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» et FHU TRANSLAD, Hôpital D'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Tran Mau-Them F; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en diagnostic génomique des maladies rares, Plateau de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Botti C; Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA.; Brooks S; Division of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA.; Burns K; Sanford Health, Sioux Falls, SD, USA.; Ward DI; Sanford Health, Sioux Falls, SD, USA.; Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Martinez-Agosto JA; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Nelson SF; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Zacher P; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Epilepsy Center Kleinwachau, Radeberg, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; McGaughran J; Genetic Health Queensland, Royal Brisbane and Woman's Hospital, Brisbane, Australia.; School of Medicine, The University of Queensland, St Lucia, Brisbane, Australia.; Kohlhase J; Synlab Human Genetics Freiburg, Freiburg, Germany.; Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.; Moran E; Clinical Genetics, Hassenfeld Children's Hospital at NYU Langone, NYU Langone, Orthopedic Hospital, New York, NY, USA.; Pappas J; Division of Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.; Raas-Rothschild A; Sackler School of Medicine at Tel Aviv University, Tel Aviv, Israel.; Institute of Rare Diseases, Edmond & Lily Safra Children Hospital, Tel Hashomer, Israel.; Sacoto MJG; GeneDx, Gaithersburg, MD, 20877, USA.; Henderson LB; GeneDx, Gaithersburg, MD, 20877, USA.; Palculict TB; GeneDx, Gaithersburg, MD, 20877, USA.; Mullegama SV; GeneDx, Gaithersburg, MD, 20877, USA.; Zghal Elloumi H; GeneDx, Gaithersburg, MD, 20877, USA.; Reich A; GeneDx, Gaithersburg, MD, 20877, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Wahl E; Division of Genetics, UBMD Pediatrics, Buffalo, NY, USA.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.; Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Cohen JL; 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.; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Mazzola S; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.; Strong A; 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.; Keena B; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Ritter A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Bedoukian EC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Burke LW; Department of Pediatrics, Division of Clinical Genetics, University of Vermont Larner College of Medicine, Burlington, VT, USA.; Hoffman A; Paul C. Gaffney Division of Pediatric Hospital Medicine, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Department of Pediatrics, Divisions of General Academic Pediatrics and Pediatric Hospital Medicine, Nemours Children's Health System, Orlando, FL, USA.; Zurcher V; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.; Krantz ID; 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.; Izumi K; 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.; Bhoj 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.; Zackai EH; 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.; Deardorff MA; 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.; Department of Pathology, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA.

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

McCague EA; Master of Public Health Program, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Lamichhane R; Department of Clinical Translational Sciences, Marshall University, Huntington, West Virginia, USA.; Holt N; Master of Public Health Program, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.

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

Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Ahrens-Nicklas RC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Baker J; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.; Bhambhani V; Genomic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA.; Calhoun A; Division of Medical Genetics and Genomics, University of Iowa Stead Family Children's Hospital, Iowa City, Iowa, USA.; Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Deardorff MA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Fernández-Jaén A; Department of Neuropediatrics, Hospital Universitario Quirónsalud, Universidad Europea de Madrid, Madrid, Spain.; Kamien B; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, Western Australia, Australia.; Jain M; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Mckenzie F; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, Western Australia, Australia.; Mintz M; CNNH NeuroHealth and the Clinical Research Center of New Jersey, Voorhees, New Jersey, USA.; Motter C; Genetic Center, Akron Children's Hospital, Akron, Ohio, USA.; Niles K; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada.; Ritter A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Rogers C; Division of Clinical Genetics, Greenwood Genetics Center, Greenville, South Carolina, USA.; Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada.; Townshend S; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, Western Australia, Australia.; Ward-Melver C; Genetic Center, Akron Children's Hospital, Akron, Ohio, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.

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

Borja NA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA.; Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL.; John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

McKinney LM; Eastern Virginia Medical School, Department of Pediatrics, Norfolk, Virginia, USA.; Clark MC; Children's Hospital of the King's Daughters, Division of Medical Genetics, Norfolk, Virginia, USA.; Ellis AR; Eastern Virginia Medical School, Department of Pediatrics, Norfolk, Virginia, USA.; Children's Hospital of the King's Daughters, Division of Cardiology, Norfolk, Virginia, USA.; Schrier Vergano SA; Eastern Virginia Medical School, Department of Pediatrics, Norfolk, Virginia, USA.; Children's Hospital of the King's Daughters, Division of Medical Genetics, Norfolk, Virginia, USA.

Publisher: Elsevier Inc Country of Publication: Netherlands NLM ID: 101757292 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-0849 (Electronic) Linking ISSN: 26660849 NLM ISO Abbreviation: JACC Case Rep Subsets: PubMed not MEDLINE

Koczkowska M; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Callens T; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Hicks AD; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Sharp A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Johns E; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Uhas KA; Children's Healthcare of Atlanta at Scottish Rite, Atlanta, Georgia.; Armstrong L; Department of Medical Genetics, BC Women's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.; Bosanko KA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas.; Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.; Baker L; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware.; Basel DG; Children's Hospital of Wisconsin, Milwaukee, Wisconsin.; Bengala M; U.O.C Laboratorio di Genetica Medica, Dipartimento di Oncoematologia, Fondazione Policlinico di Tor Vergata, Rome, Italy.; Bennett JT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Chambers C; Department of Neurology, University of Virginia Medical Center, Charlottesville, Virginia.; Clarkson LK; Greenwood Genetic Center, Greenwood, South Carolina.; Clementi M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.; Cortés FM; Center for Rare Diseases, Clinica Las Condes, Santiago, Chile.; Cunningham M; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan.; D'Agostino MD; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.; Delatycki MB; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.; Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dosa L; SOC Genetica Medica, AOU Meyer, Florence, Italy.; Esposito S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Fox S; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.; Freckmann ML; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.; Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Giugliano T; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Giustini S; Department of Dermatology and Venereology, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Goetsch A; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.; Goldberg Y; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.; Greenwood RS; Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, North Carolina.; Griffis C; Children's Hospital of Wisconsin, Milwaukee, Wisconsin.; Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware.; Gupta P; Neurofibromatosis Diagnostic and Treatment Program, St. Joseph's Children's Hospital, Paterson, New Jersey.; Haan E; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.; Hachen RK; Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Haygarth TL; Carolinas HealthCare System, Levine Children's Specialty Center, Charlotte, North Carolina.; Hernández-Chico C; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain.; Hodge K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.; Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.; Janssens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Keller K; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.; Kelly-Mancuso G; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Kochhar A; Department of Medical Genetics and Metabolism, Valley Children's Healthcare, Madera, California.; Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Liebelt J; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Lichty A; Greenwood Genetic Center, Greenwood, South Carolina.; Listernick RH; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.; Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina.; Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies, Belgium.; Martinez Ojeda M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.; McGregor LK; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Melis D; Section of Pediatrics, Department of Translational Medical Sciences, Federico II University, Naples, Italy.; Mendelsohn N; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.; Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.; Ortenberg J; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.; Panzer K; University of Iowa Stead Family Children's Hospital, Iowa City, Iowa.; Pappas JG; Division of Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York.; Pierpont ME; Department of Pediatrics and Opthalmology, University of Minnesota, Minneapolis, Minnesota.; Piluso G; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Pinna V; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Pivnick EK; Department of Pediatrics and Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee.; Pond DA; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.; Powell CM; Department of Genetics and Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.; Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.; Ruhrman Shahar N; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.; Rutledge SL; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.; Saletti V; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Sandaradura SA; Division of Clinical Genetics, Department of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.; Santoro C; Specialistic and General Surgery Unit, Department of Woman and Child, Referral Centre of Neurofibromatosis, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Schatz UA; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Schreiber A; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Sellars EA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas.; Sheffer R; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; Siqveland E; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.; Slopis JM; Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.; Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine.; Spalice A; Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Rome, Italy.; Stockton DW; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan.; Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Theos A; Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama.; Tomlinson GE; Division of Pediatric Hematology-Oncology, Greehey Children's Cancer Research Institute, The University of Texas Health Science Center, San Antonio, Texas.; Tran G; Department of Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas.; Trapane PL; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine, Jacksonville, Florida.; Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.; Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Van den Ende J; Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.; Wallace SE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.; Yohay KH; Department of Neurology, New York University School of Medicine, Langone Medical Center, New York, New York.; Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.; Zonana J; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.; Zurcher V; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio.; Claes KBM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Eoli M; Division of Molecular Neuro-Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Martin Y; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain.; Wimmer K; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; De Luca A; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Legius E; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Messiaen LM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Liang L; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.; Li X; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.; Moutton S; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.; Schrier Vergano SA; Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, VA 23507, USA.; Cogné B; Service de Génétique Médicale, CHU de Nantes, Nantes 44093, France.; Saint-Martin A; Neuropédiatrie, Centre de Référence des Epilepsies Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg 67098, France.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Hu Y; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.; Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital/Harvard Medical School, Boston, MA 02115, USA.; The Broad Institute of Harvard and MIT, Boston, MA 02115, USA.; Thevenon J; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.; Hung CY; Division of Genetics and Genomics, Boston Children's Hospital/Harvard Medical School, Boston, MA 02115, USA.; Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes 44093, France.; Gerard B; Institut de Génétique Médicale d'Alsace, Laboratoires de Diagnostic Génétique, Unité de Génétique Moléculaire, Nouvel Hôpital Civil, Strasbourg 67000, Franc.; Rega A; Pediatric Radiologist, Département de Radiologie et Imagerie Diagnostique et Thérapeutique, CHU, Dijon 21079, France.; Nambot S; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.; Lehalle D; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.; Duffourd Y; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.; Thauvin-Robinet C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.; Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon 21079, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon 21079, France.; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.; Bézieau S; Service de Génétique Médicale, CHU de Nantes, Nantes 44093, France.; Dure LS; Department of Pediatrics and Neurology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.; Helbling DC; Clinical Services Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Bick D; Clinical Services Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Xu C; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.; Chen Q; Department of Cardiovascular and Metabolic Sciences, Lerner Research Institute, Department of Cardiovascular Medicine, Cleveland Clinic, Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH 44195, USA.; Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015, The Netherlands.; Vitobello A; Inserm UMR 1231 GAD team, Genetics of Developmental Disorders, Université de Bourgogne Franche-Comté, Dijon 21070, France.; Wang QK; Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan, Hubei 430074, P. R. China.; Department of Cardiovascular and Metabolic Sciences, Lerner Research Institute, Department of Cardiovascular Medicine, Cleveland Clinic, Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH 44195, USA.; Department of Genetics and Genome Science, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Tiwari P; Eastern Virginia Medical School, Norfolk, VA.; Children's Hospital of the King's Daughters, Norfolk, VA.; Dwyer K; Eastern Virginia Medical School, Norfolk, VA.; Children's Hospital of the King's Daughters, Norfolk, VA.; Siegfried B; Eastern Virginia Medical School, Norfolk, VA.; Children's Hospital of the King's Daughters, Norfolk, VA.; Children's Specialty Group, Children's Hospital of the King's Daughters, Norfolk, VA.; Neonatal-Perinatal Medicine, Children's Hospital of the King's Daughters, Norfolk, VA.; Schrier Vergano SA; Eastern Virginia Medical School, Norfolk, VA.; Children's Hospital of the King's Daughters, Norfolk, VA.; Children's Specialty Group, Children's Hospital of the King's Daughters, Norfolk, VA.

Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 101085360 Publication Model: Print Cited Medium: Internet ISSN: 1526-9906 (Electronic) Linking ISSN: 15269906 NLM ISO Abbreviation: Neoreviews Subsets: MEDLINE