부산대학교 도서관

Samango-Sprouse CA; Counts DR; Tran SL; Lasutschinkow PC; Porter GF; Gropman AL

The Application of Clinical Genetics, Vol 12, Pp 191-202 (2019)

Martin, Kimberly A. ; Samango-Sprouse, Carole A. ; Kantor, Valerie ; Dhamankar, Rupin ; Valenti, Elizabeth ; Trefogli, Maria Teresa ; Balosbalos, Irish ; Lagrave, Danielle ; Lyons, Daniel ; Kao, Charlly ; Hakonarson, Hakon ; Billings, Paul R.

In American Journal of Obstetrics & Gynecology MFM August 2020 2(3)

Samango-Sprouse CA; Department of Research, The Focus Foundation, Davidsonville, MD, USA.; Department of Human and Molecular Genetics, Florida International University, Miami, FL, USA.; Department of Pediatrics, George Washington University, Washington, DC, USA.; Grati FR; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.; Brooks M; Department of Research, The Focus Foundation, Davidsonville, MD, USA.; Hamzik MP; Department of Research, The Focus Foundation, Davidsonville, MD, USA.; Khaksari K; Department of Research, The Focus Foundation, Davidsonville, MD, USA.; Division of Neurogenetics and Developmental Pediatrics, Children's National Medical Center, Washington, DC, USA.; Gropman A; Division of Neurogenetics and Developmental Pediatrics, Children's National Medical Center, Washington, DC, USA.; Taylor A; Department of Research, The Focus Foundation, Davidsonville, MD, USA.; Malvestiti F; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.; Grimi B; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.; Liuti R; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.; Milani S; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.; Chinetti S; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.; Trotta A; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.; Agrati C; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.; Repetti E; R&D, Cytogenetics and Molecular Genetics Unit, TOMA Advanced Biomedical Assays, SpA (ImpactLab), Busto Arsizio, Varese, Italy.; Martin KA; Department of Research, The Focus Foundation, Davidsonville, MD, USA.

Publisher: John Wiley & Sons, Ltd Country of Publication: England NLM ID: 9108340 Publication Model: Print Cited Medium: Internet ISSN: 1469-0705 (Electronic) Linking ISSN: 09607692 NLM ISO Abbreviation: Ultrasound Obstet Gynecol Subsets: MEDLINE

Hamzik MP; Department of Research, The Focus Foundation, 1251 W Central Ave. Suite A #190, Davidsonville, MD 21035, USA.; Gropman AL; Division of Neurogenetics and Developments Pediatrics, Children's National Health System, 111 Michigan Ave. NW, Washington, DC 20010, USA.; Department of Neurology, George Washington University, Washington, DC 20052, USA.; Brooks MR; Department of Research, The Focus Foundation, 1251 W Central Ave. Suite A #190, Davidsonville, MD 21035, USA.; Powell S; Department of Economics, George Washington University, Washington, DC 20052, USA.; Sadeghin T; Department of Research, The Focus Foundation, 1251 W Central Ave. Suite A #190, Davidsonville, MD 21035, USA.; Samango-Sprouse CA; Department of Research, The Focus Foundation, 1251 W Central Ave. Suite A #190, Davidsonville, MD 21035, USA.; Department of Human and Molecular Genetics, Florida International University, 11200 SW 8th St., Miami, FL 33199, USA.; Department of Pediatrics, George Washington University, 2121 I St. NW, Washington, DC 20052, USA.

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

Custer, DA; Vezina, LG; Vaught, DR; Brasseux, C; Samango-Sprouse, CA; Cohen, MS; Rosenbaum, KN

JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS; FEB 2000, 21 1, p12-p18, 7p.

Simpson, JL; de la Cruz, F; Swerdloff, RS; Samango-Sprouse, C; Skakkeback, NE; Graham, JM; Hassold, T; Aylstock, M; Meyer-Bahlburg, HFL; Willard, HF; Hall, JG; Salameh, W; Boone, K; Staessen, C; Geschwind, D; Giedd, J; Dobs, AS; Rogol, A; Brinton, B; Paulsen, CA

GENETICS IN MEDICINE; NOV-DEC 2003, 5 6, p460-p468, 9p.

Iitsuka, Y; Bock, A; Nguyen, DD; Samango-Sprouse, CA; Simpson, JL; Bischoff, FZ

AMERICAN JOURNAL OF MEDICAL GENETICS; JAN 1 2001, 98 1, p25-p31, 7p.

Lesmann H; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Hustinx A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Stellenbosch, South Africa.; Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, NRW, Germany.; Marchi E; New York State Institute for Basic Research in Developmental Disabilities, New York State, Albany, New York, USA.; Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany.; Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Pantel JT; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany.; Hagen MT; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.; Mazlan RAB; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.; Tae SK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.; Kamphans T; GeneTalk GmbH, Bonn, NRW, Germany.; Meiswinkel W; GeneTalk GmbH, Bonn, NRW, Germany.; Li JM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Javanmardi B; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Uwineza A; College of Medicine and Health Sciences, University of Rwanda, and University Teaching Hospital of Kigali, Kigali, Rwanda.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Georgia.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Velmans C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Jacob M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Peron A; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Università degli Studi di Firenze, Italy.; Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, UK.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, UK.; Nunes BC; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Vilella T; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Pinheiro IF; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil.; Kim CA; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil.; Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Weiland H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Kaptain S; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Chwiałkowska K; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland.; IMAGENE.ME SA, Bialystok, Poland.; Kwasniewski M; IMAGENE.ME SA, Bialystok, Poland.; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland.; Saad R; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London UK.; Wiethoff S; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, NRW, Germany.; Goel H; School of Medicine and Public Health, University of Newcastle, Callaghan NSW, Australia.; Tang C; Kabuki Syndrome Foundation, Northbrook, IL, USA.; Hau A; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Panek P; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Nabil A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Suh J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Braun F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, NRW, Germany.; Gomy I; Department of Genetics, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Sao Paulo, Brazil.; Averdunk L; Department of General Pediatrics and Neonatology, University Children's Hospital, Heinrich-Heine-University, Medical Faculty, Düsseldorf, Germany.; Ekure E; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria.; Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana.; Graziano C; Medical Genetics Unit, Ausl Romagna, Cesena, Italy.; Gaboon N; Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt.; Fiesco-Roa M; Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, Universidad Nacional Autónoma de México, México City, Mexico.; Laboratorio de Citogenética, Instituto Nacional de Pediatría, México City, Mexico.; Spinelli AM; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Wilpert NM; NeuroCure Cluster of Excellence; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-10117 Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-13353 Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, D-10117 Berlin, German.; Phowthongkum P; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.; Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Güzel N; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Bitar R; Pediatric Gastroenterology Department, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Khalifa University, Abu Dhabi, United Arab Emirates.; Tzschach A; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Contreras-Capetillo SN; Universidad Autonoma de Yucatan (University Autonomus of Yucatan), Merida, Yucatan, Mexico.; Oberlack A; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Samango-Sprouse C; Department of Pediatrics, George Washington University, 2121 I St. NW, Washington D.C. 2005.; Department of Human and Molecular Genetics, Florida International University, 11200 SW 8th Street, AHC2 Miami, Florida 22199.; Department of Research, The Focus Foundation, 820 W. Central Ave. #190, Davidsonville, MD 21035.; Sadeghin T; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035.; Olaya M; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Borovikov A; Research Centre for Medical Genetics (RCMG), Moscow, Russia.; Schnabel F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Heuft L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Herrmann V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Kumar S; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Komlosi K; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Mohamed K; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Kalantari S; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy.; Martinez-Monseny AF; Department of Clinical Genetics, SJD Barcelona Children's Hospital, Esplugues del Llobregat (Barcelona), Spain.; Höller M; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Toutouna L; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Mohamed A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Lasa-Aranzasti A; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain.; Sayer JA; Biosciences Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.; Renal Services, The Newcastle Upon Tyne NHS Hospitals Foundation Trust, Freeman Road, Newcastle Upon Tyne, UK.; Ehmke N; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Danyel M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Sczakiel H; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Schwartzmann S; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Boschann F; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Zhao M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Adam R; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Einicke L; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Horn D; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Chew KS; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia.; Kam CC; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia.; Karakoyun M; Ege University, Faculty of Medicine, Department of Pediatric Gastroenterology Hepatology and Nutrition, Izmir, Turkey.; Pode-Shakked B; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; The faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; 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.; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel.; Rock R; Metabolic Diseases Clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center.; National Newborn Screening Program, Public Health Services, Ministry of Health Tel-Hashomer, Israel.; Carrion T; Rare diseases Unit, Pediatric Department, Hospital Universitari Son Espases, Palma de Mallorca, Spain.; Chorin O; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Zarate YA; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA.; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Conti MM; Project Director AI for Health at Foundation 29, Foundation 29, Madrid, Spain.; Karakaya M; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany.; Tung ML; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.; Chandra B; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Lumaka A; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.; Wasif N; Institute of Human Genetics, University of Ulm, Ulm, Baden-Württemberg, Germany.; University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.; Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.; Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China.; Autism Research Center, Peking University Health Science Center, Beijing 100191, China.; Niehues T; Department of Pediatrics, Helios Klinik Krefeld, Krefeld 47805, Germany.; Schmidt A; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Roth RR; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany.; Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany.; Hu P; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA.; Waikel RL; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA.; Ledgister Hanchard SE; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA.; Elmakkawy G; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France.; Krüger E; Insitute for Medical Biochemistry and Molecular Biology, University of Greifswald, Greifswald, Greifswald, Germany.; Küry S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France.; Bézieau S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France.; Arlt A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Brussels, Belgium.; Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany.; Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Dupuis L; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada.; Mendoza-Londono R; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada.; Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Weis D; Institue for Medical Genetics, Kepler University Hospital, Linz, Austria.; Chung BH; Hong Kong Genome Institute, Hong Kong, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.; Mak CCY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.; Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), 34010, Istanbul, Türkiye.; Elcioglu N; Department of Pediatric Genetics, Marmara University School of Medicine, Istanbul, Türkiye.; Aykut A; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Türkiye.; Şimşek-Kiper PÖ; Hacettepe University Faculty of Medicine, Department of Pediatric Genetics, Ankara, Türkiye.; Bögershausen N; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Wollnik B; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, Göttingen, Germany.; Bentzen HB; Centre for Medical Ethics, Faculty of Medicine, University of Oslo, Oslo, Norway.; Cancer Registry of Norway, Norwegian Institute of Public Health, Oslo, Norway.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Netzer C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany.; Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Devriendt K; Center for Human Genetics, KU Leuven, Leuven, Belgium.; Gripp KW; Division of Medical Genetics, A.I. du Pont Hospital for Children/Nemours, USA, Wilmington, Delaware, USA.; Mücke M; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany.; Verloes A; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany.; Nellåker C; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, UK.; Solomon BD; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA.; Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; Biology PhD Program, The Graduate Center, The City University of New York, New York, United States of America.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Song SQ; Department of Research, The Focus Foundation, Davidsonville, MD, United States.; Gropman A; Division of Neurogenetics and Developmental Pediatrics, Children's National Health System, Washington, D.C., DC, United States.; Department of Neurology, George Washington University, Washington, D.C., DC, United States.; Benjamin RW; Pediatric Endocrinology, Duke Children's Hospital, Durham, NC, United States.; Mitchell F; Department of Research, The Focus Foundation, Davidsonville, MD, United States.; Brooks MR; Department of Research, The Focus Foundation, Davidsonville, MD, United States.; Hamzik MP; Department of Research, The Focus Foundation, Davidsonville, MD, United States.; Sampson K; Department of Research, The Focus Foundation, Davidsonville, MD, United States.; Kommareddi R; Department of Research, The Focus Foundation, Davidsonville, MD, United States.; Sadeghin T; Department of Research, The Focus Foundation, Davidsonville, MD, United States.; Samango-Sprouse CA; Department of Research, The Focus Foundation, Davidsonville, MD, United States.; Department of Pediatrics, George Washington University, Washington, D.C., DC, United States.; Department of Human and Molecular Genetics, Florida International University, Miami, FL, United States.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Gropman AL; Division of Neurogenetics and Developments Pediatrics, Children's National Health System, Washington, District of Columbia, USA.; Department of Neurology, George Washington University, Washington, District of Columbia, USA.; Porter GF; Research Department, The Focus Foundation, Davidsonville, Maryland, USA.; Lasutschinkow PC; Research Department, The Focus Foundation, Davidsonville, Maryland, USA.; Sadeghin T; Research Department, The Focus Foundation, Davidsonville, Maryland, USA.; Tipton ES; Research Department, The Focus Foundation, Davidsonville, Maryland, USA.; Powell S; Department of Economics, George Washington University, Washington, District of Columbia, USA.; Samango-Sprouse CA; Research Department, The Focus Foundation, Davidsonville, Maryland, USA.; Department of Pediatrics, George Washington University, Washington, District of Columbia, USA.; Department of Human and Molecular Genetics, Florida International University, Miami, Florida, 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

Tosi L; Children's National Hospital, Washington, District of Columbia, USA.; The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA.; Mitchell F; The Focus Foundation, Davidsonville, Maryland, USA.; Porter GF; The Focus Foundation, Davidsonville, Maryland, USA.; Ruland L; The Focus Foundation, Davidsonville, Maryland, USA.; Gropman A; Children's National Hospital, Washington, District of Columbia, USA.; The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA.; Lasutschinkow PC; The Focus Foundation, Davidsonville, Maryland, USA.; Tran SL; The Focus Foundation, Davidsonville, Maryland, USA.; Rajah EN; Children's National Hospital, Washington, District of Columbia, USA.; Gillies AP; Children's National Hospital, Washington, District of Columbia, USA.; Hendrie P; The Focus Foundation, Davidsonville, Maryland, USA.; Peret R; The Focus Foundation, Davidsonville, Maryland, USA.; Sadeghin T; The Focus Foundation, Davidsonville, Maryland, USA.; Samango-Sprouse CA; The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA.; The Focus Foundation, Davidsonville, Maryland, USA.; Florida International University, Miami, Florida, 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

Samango-Sprouse CA; Research Department, The Focus Foundation, Davidsonville, Maryland, USA.; Department of Pediatrics, George Washington University, Washington, District of Columbia, USA.; Department of Human and Molecular Genetics, Florida International University, Miami, Florida, USA.; Gropman AL; Division of Neurogenetics and Developments Pediatrics, Children's National Health System, Washington, District of Columbia, USA.; Department of Neurology, George Washington University, Washington, District of Columbia, 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

Samango-Sprouse CA; Department of Pediatrics, George Washington University, Washington, District of Columbia, USA.; Department of Human and Molecular Genetics, Florida International University, Miami, Florida, USA.; The Focus Foundation, Davidsonville, Maryland, USA.; Lasutschinkow PC; The Focus Foundation, Davidsonville, Maryland, USA.; McLeod M; The Focus Foundation, Davidsonville, Maryland, USA.; Porter GF; The Focus Foundation, Davidsonville, Maryland, USA.; Powell S; Department of Economics, George Washington University, Washington, District of Columbia, USA.; St Laurent J; The Focus Foundation, Davidsonville, Maryland, USA.; Sadeghin T; The Focus Foundation, Davidsonville, Maryland, USA.; Gropman AL; Division of Neurogenetics and Developments Pediatrics, Children's National Health System, Washington, District of Columbia, USA.; Department of Neurology, George Washington University, Washington, District of Columbia, 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

Counts DR; Department of Pediatrics, Division of Pediatric Endocrinology, Sinai Hospital, Baltimore, Maryland, USA.; Yu C; Departments of Pediatrics and Internal Medicine, Section of Adult and Pediatric Endocrinology, Diabetes, & Metabolism, University of Chicago, Chicago, Illinois, USA.; Lasutschinkow PC; Division of Research, The Focus Foundation, Davidsonville, Maryland, USA.; Sadeghin T; Division of Research, The Focus Foundation, Davidsonville, Maryland, USA.; Gropman A; Division of Neurogenetics and Developments Pediatrics, Children's National Health System, Washington, District of Columbia, USA.; Department of Neurology, George Washington University, Washington, District of Columbia, USA.; Samango-Sprouse CA; Division of Research, The Focus Foundation, Davidsonville, Maryland, USA.; Pediatrics, George Washington University, Washington, District of Columbia, USA.; Human and Molecular Genetics, Florida International University, Miami, Florida, 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

Samango-Sprouse CA; Department of Pediatrics, George Washington University, Washington, District of Columbia, USA.; Department of Human and Molecular Genetics, Florida International University, Miami, Florida, USA.; Department of Research, The Focus Foundation, Davidsonville, Maryland, USA.; Tran SL; Department of Research, The Focus Foundation, Davidsonville, Maryland, USA.; Lasutschinkow PC; Department of Research, The Focus Foundation, Davidsonville, Maryland, USA.; Sadeghin T; Department of Research, The Focus Foundation, Davidsonville, Maryland, USA.; Powell S; Department of Pediatrics, George Washington University, Washington, District of Columbia, USA.; Department of Economics, George Washington University, Washington, District of Columbia, USA.; Mitchell FL; Department of Research, The Focus Foundation, Davidsonville, Maryland, USA.; Gropman A; Division of Neurogenetics and Developmental Pediatrics, Children's National Health System, Washington, District of Columbia, USA.; Department of Neurology, George Washington University, Washington, District of Columbia, 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

Lasutschinkow PC; Research Department, The Focus Foundation, Davidsonville, Maryland.; Gropman AL; Department of Neurology, George Washington University, Washington, District of Columbia.; Division of Neurogenetics and Developmental Pediatrics, Children's National Health System, Washington, District of Columbia.; Porter GF; Research Department, The Focus Foundation, Davidsonville, Maryland.; Sadeghin T; Research Department, The Focus Foundation, Davidsonville, Maryland.; Samango-Sprouse CA; Research Department, The Focus Foundation, Davidsonville, Maryland.; Department of Human and Molecular Genetics, Florida International University, Miami, Florida.; Department of Pediatrics, George Washington University, Washington, District of Columbia.

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

Samango-Sprouse CA; Department of Pediatrics, George Washington University, Washington, District of Columbia, USA.; Department of Human and Molecular Genetics, Florida International University, Miami, Florida, USA.; The Focus Foundation, Davidsonville, Maryland, USA.; Porter GF; The Focus Foundation, Davidsonville, Maryland, USA.; Lasutschinkow PC; The Focus Foundation, Davidsonville, Maryland, USA.; Tran SL; The Focus Foundation, Davidsonville, Maryland, USA.; Sadeghin T; The Focus Foundation, Davidsonville, Maryland, USA.; Gropman AL; Department of Neurology, George Washington University, Washington, District of Columbia.; Division of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington, District of Columbia, USA.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Samango-Sprouse CA; Department of Research, The Focus Foundation, Davidsonville, MD; Department of Human and Molecular Genetics, Florida International University, Miami, FL; Department of Pediatrics, George Washington University, Washington, DC. Electronic address: cssprouse@gmail.gwu.edu.; Hamzik MP; Department of Research, The Focus Foundation, Davidsonville, MD.; Gropman E; Department of Research, The Focus Foundation, Davidsonville, MD.; Brooks MR; Department of Research, The Focus Foundation, Davidsonville, MD.; Powell S; Department of Economics, George Washington University, Washington, DC.; Taylor AM; Department of Research, The Focus Foundation, Davidsonville, MD.; Sadeghin T; Department of Research, The Focus Foundation, Davidsonville, MD.; Gropman AL; Division of Neurogenetics and Developments Pediatrics, Children's National Health System, Washington, DC; Department of Neurology, George Washington University, Washington, DC.

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

Tran SL; The Focus Foundation, Davidsonville, Maryland.; Samango-Sprouse CA; The Focus Foundation, Davidsonville, Maryland.; Department of Human and Molecular Genetics, Florida International University, Miami, Florida.; Department of Pediatrics, George Washington University, Washington, District of Columbia.; Sadeghin T; The Focus Foundation, Davidsonville, Maryland.; Powell S; Department of Economics, George Washington University, Washington, District of Columbia.; Gropman AL; Department of Neurology, George Washington University, Washington, District of Columbia.; Division of Neurogenetics and Developmental Pediatrics, Children's National Health System, Washington, District of Columbia.

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

Samango-Sprouse CA; Department of Pediatrics, George Washington University, Washington, DC.; Department of Human and Molecular Genetics, Florida International University, Miami, FL.; Department of Research, The Focus Foundation, Davidsonville, MD.; Hamzik MP; Department of Research, The Focus Foundation, Davidsonville, MD.; Khaksari K; Department of Research, The Focus Foundation, Davidsonville, MD.; Brooks MR; Department of Research, The Focus Foundation, Davidsonville, MD.; Sadeghin T; Department of Research, The Focus Foundation, Davidsonville, MD.; Gropman AL; Division of Neurogenetics and Developments Pediatrics, Children's National Health System, Washington, DC; and.; Department of Neurology, George Washington University, Washington, DC.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8006933 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-7312 (Electronic) Linking ISSN: 0196206X NLM ISO Abbreviation: J Dev Behav Pediatr Subsets: MEDLINE