부산대학교 도서관

Sanders VR; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. sandersv@chop.edu.; Edmondson AC; 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.; Yan AC; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; De Leon DD; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Rosenfeld, Elizabeth; Mitteer, Lauren M; Boodhansingh, Kara; Sanders, Victoria R; McKnight, Heather; Leon, Diva D De

Journal of the Endocrine Society; Jul2024, Vol. 8 Issue 7, p1-8, 8p

Sanders VR; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Lord K; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.; Sigal WM; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.; McKnight H; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Adzick NS; Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Surgery, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.; States LJ; Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Radiology, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.; Bhatti T; Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.; De Leon DD; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.

Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

Sheppard SE; Division of Human Genetics, Department of Pediatrics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Comprehensive Vascular Anomaly Program, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Sanders VR; Division of Human Genetics, Department of Pediatrics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Comprehensive Vascular Anomaly Program, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Srinivasan A; Comprehensive Vascular Anomaly Program, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Division of Interventional Radiology, Department of Radiology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Finn LS; Department of Pathology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Adams D; Comprehensive Vascular Anomaly Program, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.; Elton A; University of Minnesota School of Medicine, Minneapolis, Minnesota 55455, USA.; Amlie-Lefond C; Department of Neurology, Seattle Children's Hospital, Washington 98105, USA.; Nelson Z; Seattle Children's Hospital, Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98105, USA.; Dmyterko V; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington 98101, USA.; Jensen D; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington 98101, USA.; Zenner K; Seattle Children's Hospital, Division of Pediatric Otolaryngology, Department of Otolaryngology/Head and Neck Surgery, University of Washington, Seattle, Washington 98105, USA.; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, Washington 98105, USA.; Perkins J; Seattle Children's Hospital, Division of Pediatric Otolaryngology, Department of Otolaryngology/Head and Neck Surgery, University of Washington, Seattle, Washington 98105, USA.; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, Washington 98105, USA.; Bennett JT; Seattle Children's Hospital, Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98105, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington 98101, USA.; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, Washington 98105, USA.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

Nriagu BN; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Comprehensive Vascular Anomaly Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Sanders VR; Comprehensive Vascular Anomaly Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Bercovitch L; Department of Dermatology, Hasbro Children's Hospital, Warren Alpert Medical School, Providence, RI, USA.; Snyder K; Comprehensive Vascular Anomaly Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Cross EA; Comprehensive Vascular Anomaly Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Rehabilitation, Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Treat JR; Comprehensive Vascular Anomaly Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Sheppard SE; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Comprehensive Vascular Anomaly Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

Smelt CLC; Division of Biosciences, University College London, London, United Kingdom.; Sanders VR; Division of Biosciences, University College London, London, United Kingdom.; Puinean AM; Division of Biosciences, University College London, London, United Kingdom.; Lansdell SJ; Division of Biosciences, University College London, London, United Kingdom.; Goodchild J; Syngenta, Jealotts Hill International Research Centre, Bracknell, Berkshire, United Kingdom.; Millar NS; Division of Biosciences, University College London, London, United Kingdom.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Sanders, Victoria R; Millar, Neil S

Pharmacological Research, Vol 191, Iss, Pp 106759-(2023)

Sheppard SE; Center for Applied Genomics.; Division of Human Genetics, and.; March ME; Center for Applied Genomics.; Seiler C; Zebrafish Core, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Matsuoka LS; Center for Applied Genomics.; Kim SE; Center for Applied Genomics.; Kao C; Center for Applied Genomics.; Rubin AI; Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Battig MR; Center for Applied Genomics.; Khalek N; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment and.; Schindewolf E; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment and.; O'Connor N; Center for Applied Genomics.; Pinto E; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Priestley JR; Division of Human Genetics, and.; Sanders VR; Division of Human Genetics, and.; Niazi R; Genetic Diagnostic Laboratory, Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Ganguly A; Genetic Diagnostic Laboratory, Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Hou C; Center for Applied Genomics.; Slater D; Center for Applied Genomics.; Frieden IJ; Department of Dermatology and.; Huynh T; Department of Dermatology and.; Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA.; Krantz ID; Division of Human Genetics, and.; Roberts Individualized Medical Genetics Center, Division of Human Genetics.; Guerrero JC; Department of Pathology.; Surrey LF; Department of Pathology.; Biko DM; Department of Radiology.; Laje P; Department of Surgery; and.; Castelo-Soccio L; Dermatology Section, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Nakano TA; Center for Cancer and Blood Disorders, Children's Hospital Colorado, Aurora, Colorado, USA.; Snyder K; Division of Oncology, Cancer Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Smith CL; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Li D; Center for Applied Genomics.; Dori Y; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Hakonarson H; Center for Applied Genomics.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Qasem AMA; School of Pharmacy, University of Bath, Bath BA2 7AY, U.K.; Rowan MG; School of Pharmacy, University of Bath, Bath BA2 7AY, U.K.; Sanders VR; Department of Neuroscience, Physiology and Pharmacology, University College London, Gower Street, London WC1E 6BT, U.K.; Millar NS; Department of Neuroscience, Physiology and Pharmacology, University College London, Gower Street, London WC1E 6BT, U.K.; Blagbrough IS; School of Pharmacy, University of Bath, Bath BA2 7AY, U.K.

Publisher: American Chemical Society Country of Publication: United States NLM ID: 9918232604406676 Publication Model: eCollection Cited Medium: Internet ISSN: 2694-2437 (Electronic) Linking ISSN: 26942437 NLM ISO Abbreviation: ACS Bio Med Chem Au Subsets: PubMed not MEDLINE

Zhou Y; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Avenue, Box 70, Chicago, IL, 60611, USA.; Chicago Medical School, Rosalind Franklin University of Medicine and Science, North Chicago, IL, USA.; Wojcik A; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Avenue, Box 70, Chicago, IL, 60611, USA.; Division of Genetics Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Sanders VR; Division of Genetics Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Rahmani B; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Avenue, Box 70, Chicago, IL, 60611, USA.; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Kurup SP; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Avenue, Box 70, Chicago, IL, 60611, USA. SKurup@luriechildrens.org.; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. SKurup@luriechildrens.org.

Publisher: Kluwer Country of Publication: Netherlands NLM ID: 7904294 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2630 (Electronic) Linking ISSN: 01655701 NLM ISO Abbreviation: Int Ophthalmol Subsets: MEDLINE

Snijders Blok L; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.; Bowling KM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.; Prokop JW; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.; Engel KL; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.; Cochran JN; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.; Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Terhal P; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, ME, USA.; Hurst JA; Great Ormond Street Hospital for Children, London, UK.; McLaughlin H; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.; Person R; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.; Crunk A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Symonds JD; Paediatric Neurosciences Research Group, University of Glasgow and Royal Hospital for Children, Glasgow, G51 4TF, UK.; Zuberi SM; Paediatric Neurosciences Research Group, University of Glasgow and Royal Hospital for Children, Glasgow, G51 4TF, UK.; Elliott KS; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Sanders VR; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Masunga A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.; Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Ortiz-Gonzalez XR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Pfundt R; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Brunner HG; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands.; Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Kleefstra T; Human Genetics Department, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. tjitske.kleefstra@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands. tjitske.kleefstra@radboudumc.nl.; Cooper GM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA. gcooper@hudsonalpha.org.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Sanders VR; Division of Biosciences, University College London, London WC1E 6BT, United Kingdom.; Sweeney A; Institute of Structural and Molecular Biology, Birkbeck College, London WC1E 7HX, United Kingdom.; Topf M; Institute of Structural and Molecular Biology, Birkbeck College, London WC1E 7HX, United Kingdom.; Millar NS; Division of Biosciences, University College London, London WC1E 6BT, United Kingdom.

Publisher: American Chemical Society Country of Publication: United States NLM ID: 101525337 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1948-7193 (Electronic) Linking ISSN: 19487193 NLM ISO Abbreviation: ACS Chem Neurosci Subsets: MEDLINE

Voisin N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.; Schnur RE; GeneDx, Gaithersburg, MD 20877, USA; Cooper Medical School of Rowan University, Division of Genetics, Camden, NJ 08103, USA.; Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK.; Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Rustad CF; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.; Brown NJ; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.; Earl DL; Seattle Children's, Seattle, WA 98105, USA.; Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.; Levchenko O; Research Centre for Medical Genetics, Moscow 115522, Russia.; Geuer S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany.; Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.; Johnson D; Sheffield Clinical Genetics Service, Sheffield S10 2TQ, UK.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA.; Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.; Amor DJ; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.; Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Blatterer J; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.; Brusco A; Department of Medical Sciences, University of Torino, Torino 10126, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino 10126, Italy.; Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.; Charrow J; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Chatron N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Genetics Department, Lyon University Hospital, Lyon 69007, France.; Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Courtin T; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.; Dadali E; Research Centre for Medical Genetics, Moscow 115522, Russia.; Delafontaine J; Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.; Del Giudice E; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy.; Doco M; Secteur Génétique, CHU Reims, EA3801, SFR CAPSANTE, 51092 Reims, France.; Douglas G; GeneDx, Gaithersburg, MD 20877, USA.; Eisenkölbl A; Department of Pediatrics and Adolescent Medicine, Johannes Kepler University, Kepler University Hospital Linz, Krankenhausstraße 26-30, 4020 Linz, Austria.; Funari T; GeneDx, Gaithersburg, MD 20877, USA.; Giannuzzi G; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.; Gruber-Sedlmayr U; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria.; Guex N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Bioinformatics Competence Center, University of Lausanne, Lausanne 1015, Switzerland.; Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.; Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA.; Juusola J; GeneDx, Gaithersburg, MD 20877, USA.; Kronn D; New York Medical College, Valhalla, NY 10595, USA.; Lavrov A; Research Centre for Medical Genetics, Moscow 115522, Russia.; Lee C; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia.; Lorrain S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Protein Analysis Facility, University of Lausanne, Lausanne 1015, Switzerland.; Merckoll E; Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway.; Mikhaleva A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland.; Norman J; Integris Pediatric Neurology, Oklahoma City, OK 73112, USA.; Pradervand S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy.; Prchalová D; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.; Rhodes L; GeneDx, Gaithersburg, MD 20877, USA.; Sanders VR; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.; Seebacher HA; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.; Sellars EA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA.; Sirchia F; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy.; Takenouchi T; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan.; Tanaka AJ; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA.; Taska-Tench H; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Tønne E; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Vitiello G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy.; Vlčková M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.; Uehara T; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan.; Nava C; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France.; Yalcin B; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67404, France.; Kosaki K; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan.; Donnai D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK.; Mundlos S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany.; Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.; Chung WK; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA.; Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland. Electronic address: alexandre.reymond@unil.ch.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; van der Werf IM; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium.; Innes AM; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada.; Afenjar A; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75013, Paris, France.; APHP, GHUEP, Hôpital Armand Trousseau, Centre de Référence 'Malformations et maladies congénitales du cervelet', 75012, Paris, France.; Agrawal PB; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; Anderson IJ; The University of Tennessee Genetics Center, Knoxville, TN, 37920, USA.; Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA.; van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.; van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.; Castiglia L; Laboratory of Medical Genetics, Oasi Research Institute, 94018, Troina, Italy.; Coban-Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; van Dijck A; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium.; Doummar D; APHP, Service de Neurologie pédiatrique, Hôpital Armand Trousseau, Paris, France.; Sorbonne Université,GRC ConCer-LD, AP-HP, Hôpital Trousseau, Paris, France.; Service de neuropediatrie, Hôpital Trousseau, 26 avenue du dr Arnold Netter, 75012, Paris, France.; van Eerde AM; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.; van Essen AJ; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands.; van Gassen KL; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.; Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, 20877, USA.; van Haelst MM; Department of Clinical Genetics, VU University Medical Center, 1081 HV, Amsterdam, The Netherlands.; Iossifov I; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, NY, 11724, USA.; New York Genome Center, New York, NY, 10013, USA.; Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA.; Judd E; Department of Psychiatry, Washington University School of Medicine, St Louis, MO, 63110, USA.; Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, 85259, USA.; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA.; Keren B; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA.; Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands.; Meuwissen ME; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium.; Monaghan KG; GeneDx, Gaithersburg, MD, 20877, USA.; de Munnik SA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Université de Paris 06, 75013, Paris, France.; Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Pettinato R; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy.; Racher H; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada.; Impact Genetics, 1100 Bennett Road, Bowmanville, ON, L1C 3K5, Canada.; Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Romano C; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy.; Sanders VR; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL, 60611, USA.; Schnur RE; GeneDx, Gaithersburg, MD, 20877, USA.; Smeets EJ; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands.; Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands.; Stray-Pedersen A; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Norwegian National Unit for Newborn Screening, Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950 Nydalen, 0424, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, 0318, Oslo, Norway.; Sweetser DA; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA.; Terhal PA; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway.; VanNoy GE; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; de Vries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Waxler JL; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA.; Willing M; Department of Pediatrics, Washington University School of Medicine, St Louis, MO, 63110, USA.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Veltman JA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK.; Kooy RF; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium.; Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. bert.devries@radboudumc.nl.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Sanders VR; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA. vsanders@luriechildrens.org.; Sheldon SH; Director, Sleep Medicine Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Professor of Pediatrics & Neurology, Feinberg School of Medicine, Northwestern University, Evanston, Illinois, USA.; Charrow J; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Professor of Pediatrics, Feinberg School of Medicine, Northwestern University, Evanston, Illinois, USA.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Smelt CLC; Division of Biosciences, University College London, London, UK.; Sanders VR; Division of Biosciences, University College London, London, UK.; Newcombe J; Department of Chemistry, University College London, London, UK; Institute of Structural and Molecular Biology, Birkbeck College, London, UK.; Burt RP; Division of Biosciences, University College London, London, UK.; Sheppard TD; Department of Chemistry, University College London, London, UK.; Topf M; Institute of Structural and Molecular Biology, Birkbeck College, London, UK.; Millar NS; Division of Biosciences, University College London, London, UK. Electronic address: n.millar@ucl.ac.uk.

Publisher: Pergamon Press Country of Publication: England NLM ID: 0236217 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-7064 (Electronic) Linking ISSN: 00283908 NLM ISO Abbreviation: Neuropharmacology Subsets: MEDLINE