부산대학교 도서관

Furuta Y; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Ezell KM; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Hamid R; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Cogan JD; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Cassini TA; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Rives L; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; McMinn A; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Shah S; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Peltier AC; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Layfield S; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Fletcher RS; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Tedder ML; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Lee JA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Kerkhof J; Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences, London, Canada.; Rzasa J; Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences, London, Canada.; Sadikovic B; Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences, London, Canada.; Al Mamun A; Department of Biomedical Data Science, Meharry School of Applied Computational Sciences, Nashville, Tennessee, USA.; Sheehan JH; Division of Infectious Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.; Moth CW; Department of Chemistry, Pharmacology, and Biomedical Informatics, Center for Structural Biology and Institute of Chemical Biology, Vanderbilt University, Nashville, Tennessee, USA.; Meiler J; Department of Chemistry, Pharmacology, and Biomedical Informatics, Center for Structural Biology and Institute of Chemical Biology, Vanderbilt University, Nashville, Tennessee, USA.; Vawter-Lee M; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Mendoza-Sengco PM; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Pediatric Rehabilitation Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Holzen JB; Tennessee Pediatrics, Hendersonville, Tennessee, USA.; Pruthi S; Department of Radiology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Tinker RJ; Department of Medical Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

Rots D; Jakub TE; Keung C; Jackson A; Banka S; Pfundt R; de Vries BBA; van Jaarsveld RH; Hopman SMJ; van Binsbergen E; Valenzuela I; Hempel M; Bierhals T; Kortüm F; Lecoquierre F; Goldenberg A; Hertz JM; Andersen CB; Kibæk M; Prijoles EJ; Stevenson RE; Everman DB; Patterson WG; Meng L; Gijavanekar C; De Dios K; Lakhani S; Levy T; Wagner M; Wieczorek D; Benke PJ; Lopez Garcia MS; Perrier R; Sousa SB; Almeida PM; Simões MJ; Isidor B; Deb W; Schmanski AA; Abdul-Rahman O; Philippe C; Bruel AL; Faivre L; Vitobello A; Thauvin C; Smits JJ; Garavelli L; Caraffi SG; Peluso F; Davis-Keppen L; Platt D; Royer E; Leeuwen L; Sinnema M; Stegmann APA; Stumpel CTRM; Tiller GE; Bosch DGM; Potgieter ST; Joss S; Splitt M; Holden S; Prapa M; Foulds N; Douzgou S; Puura K; Waltes R; Chiocchetti AG; Freitag CM; Satterstrom FK; De Rubeis S; Buxbaum J; Gelb BD; Branko A; Kushima I; Howe J; Scherer SW; Arado A; Baldo C; Patat O; Bénédicte D; Lopergolo D; Santorelli FM; Haack TB; Dufke A; Bertrand M; Falb RJ; Rieß A; Krieg P; Spranger S; Bedeschi MF; Iascone M; Josephi-Taylor S; Roscioli T; Buckley MF; Liebelt J; Dagli AI; Aten E; Hurst ACE; Hicks A; Suri M; Aliu E; Naik S; Sidlow R; Coursimault J; Nicolas G; Küpper H; Petit F; Ibrahim V; Top D; Di Cara F; Louie RJ; Stolerman E; Brunner HG; Vissers LELM; Kramer JM; Kleefstra T

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; In Process

Dekker J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands. Electronic address: j.dekker.1@erasmusmc.nl.; Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98105, USA.; Everman DB; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Washington C; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Jones JR; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Mosca-Boidron AL; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Perrin L; Département de Génétique, Hôpital Robert Debré, 75019 Paris, France.; Auvin S; Université Paris-Cité, INSERM NeuroDiderot, APHP, Robert Debré University Hospital, Pediatric Neurology Department, CRMR Epilepsies rares, EpiCare member, Institut Universitaire de France, (IUF), Paris, France.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Gleeson JG; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.; Meave N; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.; Wallace C; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.; Nambot S; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU de Dijon, Dijon, France.; Delanne J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU de Dijon, Dijon, France.; Ruggiero SM; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Helbig I; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Fitzgerald MP; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Leventer RJ; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Melbourne, Parkville VIC 3052, Australia.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, St. Louis, MO 63110, USA.; Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Prakash S; Phoenix Children's Hospital, Department of Genetics & Metabolism, 1919 East Thomas Road, Rosenberg Building, Suite 304, Phoenix, AZ 85016, USA.; Neilson DE; Phoenix Children's Hospital, Department of Genetics & Metabolism, 1919 East Thomas Road, Rosenberg Building, Suite 304, Phoenix, AZ 85016, USA; University of Arizona College of Medicine-Phoenix, Department of Child Health, 475 N. 5th Street, Phoenix, AZ 85004, USA.; Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.; Sferra A; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.; Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.; Aiello C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Brockmann K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Children's Hospital, University Medical Center, Göttingen, Germany.; Kuranov AB; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Kaulfuss S; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Basit S; Department of Biochemistry and Molecular Medicine, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Alluqmani M; Department of Neurology, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Almatrafi A; Department of Biology, College of Science, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Guimond C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Mohammed F; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India.; Sharma P; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India.; Goel D; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India; Department of Pharmacology, School of Pharmaceutical Education & Research (SPER), Jamia Hamdard, New Delhi 110062, India.; Wirth T; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Anheim M; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Centre de Référence des Maladies Neurogénétiques Rares, Strasbourg, France.; Bahena P; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Koparir A; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Kolokotronis K; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Vona B; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany.; Haaf T; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Kunstmann E; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Sczakiel HL; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany; RG Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.; Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.; Misra-Isrie M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Stolerman ES; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Mergler S; Medical Department ASVZ, Care and Service Center for People with Intellectual Disabilities, Sliedrecht, the Netherlands; Department of General Practice and Intellectual Disability Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Zarate YA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Tajsharghi H; School of Health Sciences, Biomedicine Division, University of Skovde, Skovde, Sweden.; Zeidler S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Cappuccio G; Department of Pediatrics -Neurology, Baylor College of Medicine, Houston, TX 77030, USA.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Swols DM; Division of Clinical and Translational Genetics, Dr. John T Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.; Tekin M; Division of Clinical and Translational Genetics, Dr. John T Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.; Upadia J; Hayward Genetics Center, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA, USA.; Martin DM; Departments of Pediatrics and Human Genetics, the University of Michigan Medical School, Ann Arbor, MI, USA.; Craven D; Department of Pediatric Pulmonology, Rainbow Babies and Children's Hospital, Cleveland, OH, USA.; Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.; van de Pol LA; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit location, Amsterdam, the Netherlands.; D'Arco F; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Margot H; Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.; Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Yousefi S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; van Veghel-Plandsoen MM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Aronica E; Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Department of (Neuro)Pathology, Amsterdam, the Netherlands; Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands.; Anink J; Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Department of (Neuro)Pathology, Amsterdam, the Netherlands.; Rogers SL; Department of Biology and Integrative Program for Biological and Genome Sciences, University of North Carolina, Chapel Hill, NC 27599, USA.; Slep KC; Department of Biology, University of North Carolina, Chapel Hill, NC 27599, USA.; Doherty D; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55455, USA.; Mancini GMS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.

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

Asadollahi R; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. R.Asadollahi@greenwich.ac.uk.; Faculty of Engineering and Science, University of Greenwich London, Medway Campus, Chatham Maritime, London, UK. R.Asadollahi@greenwich.ac.uk.; Ahmad A; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Boonsawat P; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Shahanoor Hinzen J; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.; Lohse M; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Bouazza-Arostegui B; Institute of Neurophysiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Sun S; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Utesch T; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Sommer JD; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ilic D; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Padmanarayana M; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.; Fischermanns K; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ranjan M; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Boll M; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ka C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France.; Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France.; Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Reinson K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.; Stephan BO; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Honjo RS; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Bertola DR; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Kim CA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.; Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Hospital, Memphis, TN, USA.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Heath O; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Brown NJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Baker N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Lake NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Zeidler S; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Zuurbier L; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands.; Maas SM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands.; de Kruiff CC; Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands.; Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Oppermann H; 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.; Beblo S; Center for Pediatric Research, University Hospital for Children and Adolescents, and Centre for Rare Diseases, University Hospital Leipzig, Leipzig, Germany.; Maxton C; Zentrum für Kinderneurologie, Hamburg, Germany.; Śmigiel R; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wrocław, Wrocław, Poland.; Underhill H; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.; Dubbs H; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Rosen A; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Helbig KL; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Helbig I; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Center for Epilepsy and Neurodevelopmental Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Ruggiero SM; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Fitzgerald MP; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Kraemer D; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Prada CE; Division of Genetics and Rare Diseases, Ann and Robert H. 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BIH Biomedical Innovation Academy, Clinician Scientist Program, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Manickam K; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Koboldt DC; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Rad A; Arcensus GmbH, Rostock, Germany.; Oprea G; Arcensus GmbH, Rostock, Germany.; Bachman KK; Department of Pediatrics, Women's and Children's Institute, Geisinger Medical Center, Danville, PA, USA.; Seeley AH; Department of Pediatrics, Women's and Children's Institute, Geisinger Medical Center, Danville, PA, USA.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Terracciano A; 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Department of Neurology, Neurogenetics Center, University of São Paulo, São Paulo, Brazil.; Koeberl D; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Riley K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Burglen L; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, Hôpital Trousseau, AP-HP.Sorbonne Université, Paris, France.; Doummar D; Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau, FHU I2-D2, AP-HP.Sorbonne Université, Paris, France.; Héron B; Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau, FHU I2-D2, AP-HP.Sorbonne Université, Paris, France.; Mignot C; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France.; Keren B; 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Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Gillam J; Department of Pathology, Virginia Commonwealth University Health System, Richmond, Virginia, USA.; Desai R; Division of Hematology-Oncology, Virginia Commonwealth University Health System, Richmond, Virginia, USA.; Louie RJ; Department of Surgery, Virginia Commonwealth University Health System, Richmond, Virginia, USA.; Turner SA; Department of Pathology, Virginia Commonwealth University Health System, Richmond, Virginia, USA.; Wang GY; Department of Pathology, Beaumont Hospital, Royal Oak, Michigan, USA.; Diaz-Perez JA; Department of Pathology, Virginia Commonwealth University Health System, Richmond, Virginia, USA.; Department of Dermatology, Virginia Commonwealth University Health System, Richmond, Virginia, USA.; Mochel MC; Department of Pathology, Virginia Commonwealth University Health System, Richmond, Virginia, USA.; Department of Dermatology, Virginia Commonwealth University Health System, Richmond, Virginia, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 0425124 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0560 (Electronic) Linking ISSN: 03036987 NLM ISO Abbreviation: J Cutan Pathol Subsets: MEDLINE

Muanamputu G; Division of Surgical Oncology, Virginia Commonwealth University Health, Richmond, VA, USA.; Sparkman BK; Division of Surgical Oncology, Virginia Commonwealth University Health, Richmond, VA, USA.; Louie RJ; Division of Surgical Oncology, Virginia Commonwealth University Health, Richmond, VA, USA.; McGuire KP; Division of Surgical Oncology, Virginia Commonwealth University Health, Richmond, VA, USA.

Publisher: SAGE Publications in association with Southeastern Surgical Congress Country of Publication: United States NLM ID: 0370522 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1555-9823 (Electronic) Linking ISSN: 00031348 NLM ISO Abbreviation: Am Surg Subsets: MEDLINE

Du Q; Central European Institute for Technology, Masaryk University, Brno 62500, Czechia.; National Centre for Biomolecular Research, Faculty of Science, Masaryk University, Brno 62500, Czechia.; Cherian A; Central European Institute for Technology, Masaryk University, Brno 62500, Czechia.; National Centre for Biomolecular Research, Faculty of Science, Masaryk University, Brno 62500, Czechia.; Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.; Barcia G; Department of Genetics, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, 75015 Paris, France.; Laboratory of Translational Research for Neurological Disorders, UMR 1163 Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine Institute, 75015 Paris, France.; Rudy NL; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.; Nabbout R; Laboratory of Translational Research for Neurological Disorders, UMR 1163 Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine Institute, 75015 Paris, France.; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, 75015 Paris, France.; Sarda E; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, 75015 Paris, France.; Charpié M; Department of Genetics, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, 75015 Paris, France.; Patterson WG; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.; Keegan LP; Central European Institute for Technology, Masaryk University, Brno 62500, Czechia liam.keegan@ceitec.muni.cz mary.oconnell@ceitec.muni.cz.; O'Connell MA; Central European Institute for Technology, Masaryk University, Brno 62500, Czechia liam.keegan@ceitec.muni.cz mary.oconnell@ceitec.muni.cz.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9509184 Publication Model: Electronic Cited Medium: Internet ISSN: 1469-9001 (Electronic) Linking ISSN: 13558382 NLM ISO Abbreviation: RNA Subsets: MEDLINE

Wilson, C; Qiu, L; Hong, Y; Karnik, T; Tadros, G; Mau, B; Ma, T; Mu, Y; New, J; Louie, RJ; Gunewardena, S; Godwin, AK; Tawfik, OW; Chien, J; Roby, KF; Krieg, AJ

Oncogene
Oncogene, vol 36, iss 18

Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.; LaForce GR; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA.; Srivastava A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.; Perillo DR; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Li S; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.; Johnson K; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.; Baris S; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey.; Berger B; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.; Regan SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Pfennig CD; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; de Munnik S; Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, 6524, the Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, 6524, the Netherlands.; Hebbar M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 98195, Seattle, WA, USA.; Jimenez-Heredia R; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria.; Karakoc-Aydiner E; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey.; Ozen A; Division of Pediatric Allergy and Immunology, School of Medicine, Marmara University, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, 34722, Turkey.; Dmytrus J; Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, 1090, Austria.; Krolo A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria.; Corning K; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Lebel RR; Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY, 13210, USA.; Le TL; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France.; Amiel J; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, 75015, France.; Gordon CT; Imagine Institute, INSERM U1163, Paris Cité University, Paris, 75015, France.; Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, 1090, Austria.; Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, 1090, Austria.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, 1090, Austria.; St. Anna Children's Hospital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, 1090, Austria.; Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, 576104, India.; Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, 576104, India.; Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu.; Schaffer AE; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA. ashleigh.schaffer@case.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Ong C; School of Medicine, Virginia Commonwealth University, Richmond, VA, USA.; Blue CM; School of Medicine, Virginia Commonwealth University, Richmond, VA, USA.; Khan J; School of Medicine, Virginia Commonwealth University, Richmond, VA, USA.; Deng X; Department of Biostatistics, Virginia Commonwealth University, Richmond, VA, USA.; Bandyopadhyay D; Department of Biostatistics, Virginia Commonwealth University, Richmond, VA, USA.; Louie RJ; Department of Surgery, Virginia Commonwealth University Health, Richmond, VA, USA.; McGuire KP; Department of Surgery, Virginia Commonwealth University Health, Richmond, VA, USA. kandace.mcguire@vcuhealth.org.

Publisher: Springer Country of Publication: United States NLM ID: 9420840 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1534-4681 (Electronic) Linking ISSN: 10689265 NLM ISO Abbreviation: Ann Surg Oncol Subsets: MEDLINE

Guillouet C; Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Agostini V; Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Baujat G; Service de Médecine Génomique des Maladies Rares, Necker-Enfants Malades Hospital, AP-HP, Paris, France.; Cocciadiferro D; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Pippucci T; IRCCS Azienda Ospedaliero, Universitaria di Bologna, Bologna, Italy.; Lesieur-Sebellin M; Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Georget M; Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Schatz U; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Fauth C; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Rogers C; Greenwood Genetic Center, Greenwood, SC, USA.; Davis JM; Greenwood Genetic Center, Greenwood, SC, USA.; Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Austrian Newborn Screening, Medical University of Vienna, 1090 Vienna, Austria.; Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK), Paracelsus Medical University, 5020 Salzburg, Austria.; Bouman A; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; VanNoy GE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora, CO, USA.; Brown K; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Saenz M; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Digilio MC; Medical Genetics, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Mastromoro G; Department of Laboratory Science, Ospedale Isola Tiberina - Gemelli Isola, Rome, Italy.; Rongioletti MCA; Department of Laboratory Science, Ospedale Isola Tiberina - Gemelli Isola, Rome, Italy.; Piacentini G; Fetal and Neonatal Cardiology Unit, Ospedale Isola Tiberina - Gemelli Isola, Rome, Italy.; Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Neurology, South Kazakhstan Medical Academy, Shymkent, Kazakhstan.; Guliyeva S; MediClub Hospital, Baku, Azerbaijan.; Hasanova L; Caspian International Hospital, Baku, Azerbaijan.; Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Bhatnagar I; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Klaas O; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany.; Horvath J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany.; Bouvagnet P; Département de Génétique, Laboratoire Eurofins Biomnis, 69007 Lyon, France; Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital MFME, CHU Martinique, Fort de France, France.; Witmer PD; McKusick-Nathans Department of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA.; MacCarrick G; McKusick-Nathans Department of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA.; Cisarova K; Division of Oncology, Department of Internal Medicine, Medical University of Graz, 8036 Graz, Austria.; Good JM; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.; Gorokhova S; Aix Marseille University, INSERM, MMG, U 1251, 13005 Marseille, France; Department of Medical Genetics, Timone Children's Hospital, AP-HM, 13005 Marseille, France.; Boute O; University Lille, CHU Lille, ULR 7364 - RADEME - Maladies Rares du Développement Embryonnaire et du Métabolisme, 59000 Lille, France.; Smol T; University Lille, CHU Lille, ULR 7364 - RADEME - Maladies Rares du Développement Embryonnaire et du Métabolisme, 59000 Lille, France.; Bruel AL; INSERM UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000 Dijon, France; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000 Dijon, France.; Patat O; Department of Medical Genetics, CHU Toulouse Purpan, Toulouse, France.; Broadbent JR; Rare Disease Discovery Group, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Tan TY; Rare Disease Discovery Group, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.; Tan NB; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.; Lyonnet S; Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Necker-Enfants Malades Hospital, AP-HP, Paris, France.; Busa T; Department of Medical Genetics, Timone Children's Hospital, AP-HM, 13005 Marseille, France.; Graziano C; U.O. Genetica Medica, Azienda USL della Romagna, Ravenna, Italy.; Amiel J; Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Necker-Enfants Malades Hospital, AP-HP, Paris, France.; Gordon CT; Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France. Electronic address: chris.gordon@inserm.fr.

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

Karimi K; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Lichtenstein Y; Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; Reilly J; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; McConkey H; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Relator R; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Levy MA; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Kerkhof J; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Symonds JD; The Paediatric Neurosciences Research Group, Royal Hospital for Children, and School of Health and Wellbeing, University of Glasgow, Member of the ERN EpiCARE, Glasgow, UK.; Ghoumid J; Université de Lille, CHU Lille, ULR 7364 - RADEME - Maladies Rares du Développement embryonnaire et du Métabolisme, 59000 Lille, France.; Smol T; Université de Lille, CHU Lille, ULR 7364 - RADEME - Maladies Rares du Développement embryonnaire et du Métabolisme, 59000 Lille, France.; Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA.; Drazba K; Greenwood Genetic Center, Greenwood, SC, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Miranda V; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.; McCann C; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Motta J; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Lancaster E; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Sallevelt S; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, SA, Australia.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Morrison J; Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL, USA.; Hannibal M; Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.; O'Shea J; Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.; Marin V; Medical Genetic Laboratory, CHU Bordeaux, 33000 Bordeaux, France.; Prasad C; Department of Pediatrics, Section of Genetics and Metabolism London Health Sciences Center, Western University, London, ON, Canada.; Patel C; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD 4029, Australia.; Raskin S; Postgraduate Program in Child and Adolescent, Department of Pediatrics, Federal University of Paraná, Curitiba, Parana, Brazil.; Maria-Noelia SM; Laboratory Medicine Department, Hospital Universitario La Paz, Madrid, Spain.; Diaz de Bustamante A; Clinical Genetics Department, Hospital Universitario de Móstoles, Madrid, Spain.; Marom D; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Barkan T; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Keren B; La Pitié-Salpêtrière Hospital, Genetic Department, AP-HP Sorbonne University, Paris, France.; Poirsier C; Department of Genetics, Reims University Hospital, Reims, France.; Cohen L; Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.; Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France.; Gorman K; Department of Paediatric Neurology and Neurophysiology, Children's Health Ireland at Temple St., Dublin 1, Ireland; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Gallant E; Advocate Children's Pediatric Genetics, Oak Lawn, IL, USA.; Menke LA; Amsterdam UMC - location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Meibergdreef 9, Amsterdam, the Netherlands.; Valenzuela Palafoll I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Hauser N; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.; Rankin J; Department of Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Turnpenny PD; Department of Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.; Balci TB; Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA.; Sadikovic B; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.; Weiss K; Genetics Institute, Rambam Health Care Campus, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address: k_weiss@rambam.health.gov.il.

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

Batkovskyte D; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; McKenzie F; Genetic Services of Western Australia, Perth, Australia.; School of Pediatrics and Child Health, University of Western Australia, Perth, Australia.; Taylan F; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Simsek-Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Nikkel SM; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, Canada.; University of British Columbia, Vancouver, Canada.; Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA.; Ha T; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.; Cavalcanti DP; Skeletal Dysplasias Group, Department of Translational Medicine, Medical Genetics, University of Campinas (UNICAMP), Campinas, Brazil.; Miyahara H; Division of Neonatology, Kawaguchi City Medical Center, Kawaguchi, Japan.; Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA.; Aguirre MA; Centro Nacional de Genética Médica (CENAGEM), A.N.L.I.S 'Dr. Carlos G. Malbrán', Buenos Aires, Argentina.; Akçören Z; Division of Pediatric Pathology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Chiu T; CHEO Genetics Clinic, Regional Genetics Program, Ottawa, Canada.; Shimizu K; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.; Hammarsjö A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Boduroglu K; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Moore HW; Greenwood Genetic Center, Greenwood, SC, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Arts P; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.; Merrihew AN; Greenwood Genetic Center, Greenwood, SC, USA.; Babic M; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.; Jackson MR; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.; Australian Genomics Health Alliance, Melbourne, Australia.; Papadogiannakis N; Department of Laboratory Medicine, Division of Pathology, Karolinska Institutet, Department of Pathology, Karolinska University Hospital, Stockholm, Sweden.; Lindstrand A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Nordgren A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Institute of Biomedicine, Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.; Barnett CP; Pediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, Australia.; Adelaide Medical School of Medicine, University of Adelaide, Adelaide, Australia.; Scott HS; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.; Adelaide Medical School of Medicine, University of Adelaide, Adelaide, Australia.; Chagin AS; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.; Institute of Medicine, Gothenburg University, Gothenburg, Sweden.; Nishimura G; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.; Grigelioniene G; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

Cooley Coleman JA; Greenwood Genetic Center, Greenwood, SC 29646 USA.; Gass JM; Greenwood Genetic Center, Greenwood, SC 29646 USA.; Florida Cancer Specialists, Fort Myers, FL 33916 USA.; Srikanth S; Greenwood Genetic Center, Greenwood, SC 29646 USA.; REDDILAB, Clemson University, Clemson, SC 29634 USA.; Pauly R; Greenwood Genetic Center, Greenwood, SC 29646 USA.; Ziats CA; Greenwood Genetic Center, Greenwood, SC 29646 USA.; Division of Medical Genetics, Department of Pediatrics, Dell Medical School at the University of Texas, Austin, TX 78712 USA.; Everman DB; Greenwood Genetic Center, Greenwood, SC 29646 USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646 USA.; Bell S; Greenwood Genetic Center, Greenwood, SC 29646 USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646 USA.; Cascio L; Greenwood Genetic Center, Greenwood, SC 29646 USA.; REDDILAB, Clemson University, Clemson, SC 29634 USA.; Patterson WG; Greenwood Genetic Center, Greenwood, SC 29646 USA.; Jones JR; Greenwood Genetic Center, Greenwood, SC 29646 USA.; Di Donato N; Institute for Clinical Genetics, University Hospital, TU Dresden, Dresden, Germany.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC 29646 USA.; Boccuto L; Greenwood Genetic Center, Greenwood, SC 29646 USA.; School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC 29634 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

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B; COWAN R; TAYLOR F; YAMAMOTO RK; BRITTON DI; FERNHOLZ R; HOUDE M; MILEK M; PATEL PM; TRISCHUK J; LANNI F; PALOMBO F; BAUER JM; BOOKE M; CREMALDI L; KROEGER R; REEP M; REIDY J; SANDERS DA; SUMMERS DJ; ARGUIN JF; BEAULIEU M; MARTIN JP; NIEF JY; SEITZ R; TARAS P; WOCH A; ZACEK V; NICHOLSON H; SUTTON CS; CARTARO C; CAVALLO N; DE NARDO G; FABOZZI F; GATTO C; LISTA L; PICCOLO D; SCIACCA C; CASON NM; LOSECCO JM; ALSMILLER JRG; GABRIEL TA; HANDLER T; HECK J; IWASAKI M; SINEV NB; CARACCIOLO, ROBERTO; COLECCHIA F; DAL CORSO F; GALEAZZI F; MARZOLLA M; MICHELON G; MORANDIN M; POSOCCO M; ROTONDO M; SANTI S; SIMONETTO, FRANCO; STROILI, ROBERTO; TORASSA E; VOCI C; BAILLY P; BENAYOUN M; BRIAND H; CHAUVEAU J; DAVID P; DE LA VAISSIERE C; DEL BUONO L; GENAT JF; HAMON O; LERUSTE P; LE DIBERDER F; LEBBOLO H; LORY J; MARTIN L; MARTINEZ VIDAL F; ROOS L; STARK J; VERSILLE S; ZHANG B; MANFREDI PF; RATTI L; RE V; SPEZIALI V; FRANK ED; GLADNEY L; GUO QH; PANETTA JH; ANGELINI C; BATIGNANI G; BETTARINI 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V; MAYER B; MICOUT P; MOLS JP; MOULY JP; PENICHOT Y; ROLQUIN J; SERFASS B; TOUSSAINT JC; USSEGLIO M; VASSEUR G; YECHE C; ZITO M; COPTY N; PUROHIT MV; YUMICEVA FX; ADAM I; ADESANYA A; ANTHONY PL; ASTON D; BARTELT J; BECLA J; BELL R; BLOOM E; BOEHEIM CT; BOYARSKI AM; BOYCE RF; BRIGGS D; BULOS F; BURGESS W; BYERS B; CALDERINI G; CHESTNUT R; CLAUS R; CONVERY MR; COOMBES R; COTTRELL L; COUPAL DP; COWARD DH; CRADDOCK WW; DEBARGER S; DESTAEBLER H; DORFAN J; DOSER M; DUNWOODIE W; DUSATKO JE; ECKLUND S; FIEGUTH TH; FREYTAG DR; GLANZMAN T; GODFREY GL; HALLER G; HANUSHEVSKY A; HARRIS J; HASAN A; HEE C; HIMEL T; HUFFER ME; HUNG T; INNES WR; JESSOP CP; KAWAHARA H; KELLER L; KING ME; KLAISNER L; KREBS HJ; LANGENEGGER U; LANGEVELD W; LEITH DWGS; LOUIE SK; LUITZ S; LUTH V; LYNCH HL; MCDONALD J; MANZIN G; MARSISKE H; MATTISON T; MCCULLOCH M; MCDOUGALD M; MCSHURLEY D; MENKE S; MESSNER R; MORII M; MOUNT R; MULLER DR; NELSON D; NORDBY M; O'GRADY CP; OLAVSON L; O'NEILL FG; OXOBY G; PAOLUCCI P; PAVEL T; PERL J; PERTSOVA M; PETRAK S; PUTALLAZ G; RAINES PE; RATCLIFF BN; REIF R; ROBERTSON SH; ROCHESTER LS; ROODMAN A; RUSSEL JJ; SAPOZHNIKOV L; SAXTON OH; SCHIETINGER T; SCHINDLER RH; SCHWIENING J; SCIOLLA G; SEEMAN JT; SERBO VV; SHAPIRO S; SKARPASS K; SNYDER A; SODERSTROM E; SOHA A; SPANIER SM; STAHL A; STILES P; SU D; SULLIVAN MK; TALBY M; TANAKA HA; VA'VRA J; WAGNER SR; WANG R; WEBER T; WEINSTEIN AJR; WHITE JL; WIENANDS U; WISNIEWSKI WJ; YOUNG CC; YU N; BURCHAT PR; CHENG CH; KIRKBY D; MEYER TI; ROAT C; HENDERSON R; KHAN N; BERRIDGE S; BUGG W; COHN H; HART E; WEIDEMANN AW; BENNINGER T; IZEN JM; KITAYAMA I; LOU XC; TURCOTTE M; BIANCHI F; BONA M; DAUDO F; DI GIROLAMO B; GAMBA D; GROSSO P; SMOL A; TRAPANI PP; ZANIN D; BOSISIO L; DELLA RICCA G; LANCERI L; POMPILI A; POROPAT P; PREST M; RASHEVSKAIA I; VALLAZZA E; VUAGNIN G; PANVINI RS; BROWN C; DE SILVA A; KOWALEWSKI R; PITMAN D; RONEY JM; BAND HR; CHARLES E; DASU S; ELMER P; JOHNSON JR; NIELSEN J; OREJUDOS W; PAN Y; PREPOST R; SCOTT IJ; WALSH J; WU SL; YU Z; ZOBERNIG H; MOORE TB; NEAL H; CA BABAR COLLABORATION

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Schwartz CE; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Toutain A; Department of Medical Genetics, Centre Hospitalier Universitaire, Tours, France.; Skinner C; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, 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

Chettle J; Department of Oncology, University of Oxford, Oxford, UK.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA. Electronic address: rlouie@ggc.org.; Larner O; University of South Carolina School of Medicine Greenville, Greenville, SC, USA.; Best R; University of South Carolina School of Medicine Greenville, Greenville, SC, USA.; Chen K; Yale University, New Haven, CT, USA.; Morris J; Department of Oncology, University of Oxford, Oxford, UK.; Dedeic Z; Department of Oncology, University of Oxford, Oxford, UK.; Childers A; Greenwood Genetic Center, Greenwood, SC, USA.; Rogers RC; Greenwood Genetic Center, Greenwood, SC, USA.; DuPont BR; Greenwood Genetic Center, Greenwood, SC, USA.; Skinner C; Greenwood Genetic Center, Greenwood, SC, USA.; Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, 44000 Nantes, France.; Uguen K; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Planes M; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Monteil D; Naval Medical Center Portsmouth, Portsmouth, VA, USA.; Li M; Invitae, San Francisco Corp., San Francisco, CA, USA.; Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Greenbaum L; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel.; Mor N; The Genomic Unit, Sheba Cancer Research Centre, Sheba Medical Center, Tel Hashomer, Israel.; Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, 44000 Nantes, France.; Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, 44000 Nantes, France.; Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, 44000 Nantes, France.; Blesson A; Kennedy Krieger Institute, Baltimore, MD, USA.; Comi A; Kennedy Krieger Institute, Baltimore, MD, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD, USA.; Vuocolo B; Baylor College of Medicine, Houston, TX, USA.; Lalani SR; Baylor College of Medicine, Houston, TX, USA.; Sierra R; Baylor College of Medicine, Houston, TX, USA.; Berry L; Baylor College of Medicine, Houston, TX, USA.; Carter K; University of Texas Rio Grande Valley, Edinburg, TX, USA.; Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Blagden SP; Department of Oncology, University of Oxford, Oxford, UK. Electronic address: sarah.blagden@oncology.ox.ac.uk.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Carr MJ; Department of Cutaneous Oncology, Moffitt Cancer Center, Tampa, FL, USA.; Sun J; Department of Cutaneous Oncology, Moffitt Cancer Center, Tampa, FL, USA.; Department of Surgery, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.; DePalo D; Department of Cutaneous Oncology, Moffitt Cancer Center, Tampa, FL, USA.; Rothermel LD; Department of Cutaneous Oncology, Moffitt Cancer Center, Tampa, FL, USA.; Department of Surgery, Division of Surgical Oncology, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.; Song Y; Department of Surgery, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.; Straker RJ; Department of Endocrine and Oncologic Surgery, University of Pennsylvania, Philadelphia, PA, USA.; Baecher K; Department of Surgical Oncology, Emory University, Atlanta, GA, USA.; Louie RJ; Division of Surgical Oncology and Endocrine Surgery, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Stahlie EHA; Department of Surgical Oncology, Netherlands Cancer Institute - Antoni van Leeuwenhoek, Amsterdam, The Netherlands.; Wright GP; Department of Surgical Oncology, Spectrum Health/Michigan State University College of Human Medicine, Grand Rapids, MI, USA.; Naqvi SMH; Department of Biostatistics and Bioinformatics, Moffitt Cancer Center, Tampa, FL, USA.; Kim Y; Department of Biostatistics and Bioinformatics, Moffitt Cancer Center, Tampa, FL, USA.; Sarnaik AA; Department of Cutaneous Oncology, Moffitt Cancer Center, Tampa, FL, USA.; Karakousis GC; Department of Endocrine and Oncologic Surgery, University of Pennsylvania, Philadelphia, PA, USA.; Lowe MC; Department of Surgical Oncology, Emory University, Atlanta, GA, USA.; Delman KA; Department of Surgical Oncology, Emory University, Atlanta, GA, USA.; van Akkooi ACJ; Department of Surgical Oncology, Netherlands Cancer Institute - Antoni van Leeuwenhoek, Amsterdam, The Netherlands.; Ollila DW; Division of Surgical Oncology and Endocrine Surgery, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Collichio F; Division of Hematology and Oncology, Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Zager JS; Department of Cutaneous Oncology, Moffitt Cancer Center, Tampa, FL, USA. jonathan.zager@moffitt.org.; Department of Oncologic Sciences, University of South Florida Morsani College of Medicine, Tampa, FL, USA. jonathan.zager@moffitt.org.

Publisher: Springer Country of Publication: United States NLM ID: 9420840 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1534-4681 (Electronic) Linking ISSN: 10689265 NLM ISO Abbreviation: Ann Surg Oncol Subsets: MEDLINE

Chung, KC; Ryan, RJ; Louie, AC

Value in Health. 21:S15-S15

Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Pranckeviciene E; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.; Bargiacchi S; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Biamino E; Department of Pediatrics, University of Turin, Turin, Italy.; Palomares Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Cappuccio G; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Clarke A; Cardiff University School of Medicine, Cardiff, UK.; DuPont BR; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Elting MW; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Faivre L; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Fee T; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Ferilli M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Fletcher RS; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Cherick F; Genetic Medical Center, CHU Clermont Ferrand, France.; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France.; Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Gervasini C; Division of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Hilton BA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Jenkins Z; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Kaur S; Brain and Mitochondrial Research Group, Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Lewis S; BC Children's and Women's Hospital and Department of Medical Genetics, Faculty of Medicine, University of British Columbia.; Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy.; Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Morgan AT; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Pallares NR; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.; Piccione M; Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.; Plomp AS; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Poulton C; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Rius R; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Robertson S; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Rousseau J; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.; Santen GWE; Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Schijns J; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Squeo GM; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; John MS; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Thauvin-Robinet C; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital D'Enfants, CHU Dijon Bourgogne, Dijon, France.; Traficante G; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; van der Sluijs PJ; Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; 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.; Vos N; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Walden KK; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Azmanov D; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Australia.; Balci TB; Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, Ontario, Canada.; Banka S; Division of Evolution, Infection & Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom.; Gecz J; School of Medicine, Robinson Research Institute, University of Adelaide, Adelaide, Australia.; South Australian Health and Medical Research Institute, Adelaide, Australia.; Henneman P; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Lee JA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Mannens MMAM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia.; Siu V; Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, Ontario, Canada.; Amor DJ; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Baynam G; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Division of Paediatrics and Telethon Kids Institute, Faculty of Health and Medical Sciences, Perth, Australia.; Bend EG; PreventionGenetics, Marshfield, Wisconsin, USA.; Boycott K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Campeau PM; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.; Campion D; INSERM U1245, Faculté de Médecine, Rouen, France.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Esber N; KAT6A Foundation, New York, New York, USA.; Fahrner JA; Departments of Genetic Medicine and Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA.; Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.; Genevieve D; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France.; Heron D; AP-HP, Département de Génétique Médicale, Groupe Hospitalier Pitié Salpétrière, Paris, France.; Husson T; Department of Genetics and Reference Center for Developmental Disorders, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.; McNeill A; Department of Neuroscience, University of Sheffield, UK, and Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.; Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy.; Rockman-Greenberg C; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba and Program in Genetics and Metabolism, Shared Health MB, Winnipeg, Manitoba, Canada.; Schwartz C; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Vincent M; Service de génétique Médicale, CHU Nantes, Nantes, France.; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.; Vitobello A; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Alders M; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Tedder ML; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.

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