부산대학교 도서관

Rymen, Daisy; Lindhout, Martijn; Spanou, Maria; Ashrafzadeh, Farah; Benkel, Ira; Betzler, Cornelia; Coubes, Christine; Hartmann, Hans; Kaplan, Julie D; Ballhausen, Diana; Koch, Johannes; Lotte, Jan; Mohammadi, Mohammad Hasan; Rohrbach, Marianne; Dinopoulos, Argirios; Wermuth, Marieke; Willis, Daniel; Brugger, Karin; Wevers, Ron A; Boltshauser, Eugen; Bierau, Jörgen; Mayr, Johannes A; Wortmann, Saskia B

Genetics in Medicine, 22, 10, pp. 1589-1597

Averdunk L; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany.; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany.; Sticht H; Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Surowy H; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany.; Lüdecke HJ; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany.; Koch-Hogrebe M; Children's Hospital Datteln, University Witten Herdecke, Datteln, Germany.; Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Alzaidan H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alawam BS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Tohary M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Kraus C; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Endele S; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Wadman E; Division of Medical Genetics, Department of Pediatrics, DuPont Hospital for Children, Nemours Alfred I, Wilmington, Delaware, DE, USA.; Kaplan JD; Division of Medical Genetics, Department of Pediatrics, DuPont Hospital for Children, Nemours Alfred I, Wilmington, Delaware, DE, USA.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK.; Najmabadi H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Reis A; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany. dagmar.wieczorek@hhu.de.

Publisher: Springer International Country of Publication: Germany NLM ID: 9504370 Publication Model: Print Cited Medium: Internet ISSN: 1432-1440 (Electronic) Linking ISSN: 09462716 NLM ISO Abbreviation: J Mol Med (Berl) Subsets: MEDLINE; PubMed not MEDLINE

Averdunk L; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany.; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany.; Sticht H; Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Surowy H; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany.; Lüdecke HJ; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany.; Koch-Hogrebe M; Children's Hospital Datteln, University Witten Herdecke, Datteln, Germany.; Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Alzaidan H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alawam BS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Tohary M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Kraus C; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Endele S; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Wadman E; Division of Medical Genetics, Department of Pediatrics, Nemours Alfred I, DuPont Hospital for Children, Wilmington, Delaware, DE, USA.; Kaplan JD; Division of Medical Genetics, Department of Pediatrics, Nemours Alfred I, DuPont Hospital for Children, Wilmington, Delaware, DE, USA.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Najmabadi H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Reis A; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany. dagmar.wieczorek@hhu.de.

Publisher: Springer International Country of Publication: Germany NLM ID: 9504370 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1440 (Electronic) Linking ISSN: 09462716 NLM ISO Abbreviation: J Mol Med (Berl) Subsets: MEDLINE

Sheppard SE; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Campbell IM; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Harr MH; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Gold N; Mass General Hospital for Children, Division of Medical Genetics and Metabolism and Harvard Medical School, Boston, Massachusetts, USA.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bjornsson HT; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Landspitali University Hospital, Iceland.; Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Fahrner JA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA.; Fatemi A; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Harris JR; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Nowak C; Division of Genetics and Genomics, Boston Children's Hospital, The Feingold Center for Children, Boston, Massachusetts, USA.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.; Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Au M; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Campo MD; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.; Jones MC; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.; Abdul-Rahman O; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.; Bergstrom K; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.; Bhoj E; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Dugan S; Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.; Kaplan JD; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Derar N; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Gripp KW; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.; Hauser N; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.; Innes AM; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Keena B; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Kodra N; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.; Miller R; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.; Nelson B; Department of Clinical Skills, St. George's University, True Blue, Grenada.; Nowaczyk MJ; McMaster University, Hamilton, Canada.; Rahbeeni Z; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Ben-Shachar S; Genetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Shieh JT; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Slavotinek A; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Sobering AK; Department of Biochemistry, St. George's University, True Blue, Grenada.; Abbott MA; Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, Massachusetts, USA.; Allain DC; Division of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.; Amlie-Wolf L; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.; Au PYB; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Bedoukian E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Beek G; Children's Hospital of Minnesota, Minneapolis, Minnesota, USA.; Barry J; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA.; Berg J; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.; Cytrynbaum C; Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Chung BH; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.; Donoghue S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Dorrani N; Department of Pediatrics, University of California Los Angeles, California, Los Angeles, USA.; UCLA Clinical Genomics Center, University of California Los Angeles, California, Los Angeles, USA.; Eaton A; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Flores-Daboub JA; Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.; Dubbs H; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Felix CA; Division of Oncology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Fong CT; Department of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Fung JLF; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.; Gangaram B; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Goldstein A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Greenberg R; Genetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ha TK; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Hersh J; Weisskopf Child Evaluation Center, Department of Pediatrics, University of Louisville, Louisville, Kentucky, USA.; Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Kallish S; Division of Translational Medicine and Human Genetics Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Kravets E; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.; Kwok PY; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Jobling RK; Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Knight Johnson AE; Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.; Kushner J; Molecular and Medical  Genetics, Oregon Health and Science University, Portland, Oregon, USA.; Lee BH; Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Levin B; MD Anderson Cancer Center at Cooper, Cooper University Health Care, Camden, New Jersey, USA.; Lindstrom K; Phoenix Children's Hospital, Phoenix, Arizona, USA.; Manickam K; Division of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.; Mardach R; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.; McCormick E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; McLeod DR; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Mentch FD; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Minks K; Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Muraresku C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Nelson SF; UCLA Clinical Genomics Center, University of California Los Angeles, California, Los Angeles, USA.; Department of Human Genetics, Center for Duchenne Muscular Dystrophy University of California Los Angeles, California, Los Angeles, USA.; Porazzi P; Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Pichurin PN; Clinical Genomics Center, University of California Los Angeles, Los Angeles, California, USA.; Powell-Hamilton NN; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.; Powis Z; Quest Diagnostics Kalamzoo, Kalamzoo, Michigan, USA.; Ritter A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Rogers C; Molecular and Medical  Genetics, Oregon Health and Science University, Portland, Oregon, USA.; Rohena L; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA.; Ronspies C; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Schroeder A; Department of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Starr L; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Suwannarat P; Mid-Atlantic Permanente Medical Group, Rockville, Maryland, USA.; Velinov M; NYS Institute for Basic Research in developmental Disabilities, Staten Island, New York, USA.; Weksberg R; Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Wilnai Y; Genetic Institute, Sourasky Medical Center, Te-Aviv, Tel Aviv, Israel.; Zadeh N; Genetics Center and CHOC Children's Hospital, Orange, California, USA.; Zand DJ; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia, USA.; Falk MJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Quintero-Rivera F; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.; Department of Pathology and Laboratory Medicine, University of California Los Angeles, California, Los Angeles, 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

Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Brown CW; Department of Pediatrics/Genetics Division, University of Tennessee Health Science Center Memphis, Memphis, Tennessee.; Stevens SJC; Department of Human Genetics, Maastricht University Hospital, Maastricht, The Netherlands.; Stegmann APA; Department of Human Genetics, Maastricht University Hospital, Maastricht, The Netherlands.; Gunter AT; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi.; Kaplan JD; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi.; Gavrilova RH; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.; Department of Neurology, Mayo Clinic, Rochester, Minnesota.; Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Bae Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Chen Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Lu JT; Helix, San Carlos, California.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Rousseau J; Department of Pediatrics, CHU Ste-Justine and University of Montreal, Montreal, Canada.; de Vries BBA; Department of Human Genetics and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Campeau PM; Department of Pediatrics, CHU Ste-Justine and University of Montreal, Montreal, Canada.; Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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

Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Porras AR; Children's National Health System, Sheikh Zayed Institute for Pediatric Surgical Innovation, Washington, District of Columbia.; Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Medrano S; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Mok GTK; LKS Faculty of Medicine, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Leung GKC; LKS Faculty of Medicine, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Tekendo-Ngongang C; Division of Human Genetics, University of Cape Town, Cape Town, South Africa.; Uwineza A; Center of Human Genetics, School of Medicine and Pharmacy, College of Medicine and Pharmacy, University of Rwanda, Kigali, Rwanda.; Thong MK; Faculty of Medicine,Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.; Muthukumarasamy P; Faculty of Medicine,Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.; Honey E; Department of Genetics, University of Pretoria, Pretoria, South Africa.; Ekure EN; Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital, Lagos, Nigeria.; Sokunbi OJ; Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital, Lagos, Nigeria.; Kalu N; Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital, Lagos, Nigeria.; Jones KL; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Kaplan JD; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Abdul-Rahman OA; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Vincent LM; GeneDx, Gaithersburg, Maryland.; Love A; GeneDx, Gaithersburg, Maryland.; Belhassan K; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.; Ouldim K; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.; El Bouchikhi I; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.; Faculty of Sciences and Techniques,Laboratory of Microbial Biotechnology, University of Sidi Mohammed Ben Abdellah, Fez, Morocco.; Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.; Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.; Patil SJ; Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India.; Sirisena ND; Faculty of Medicine, Human Genetics Unit, University of Colombo, Colombo, Sri Lanka.; Dissanayake VHW; Faculty of Medicine, Human Genetics Unit, University of Colombo, Colombo, Sri Lanka.; Paththinige CS; Faculty of Medicine, Human Genetics Unit, University of Colombo, Colombo, Sri Lanka.; Mishra R; Faculty of Medicine, Human Genetics Unit, University of Colombo, Colombo, Sri Lanka.; Klein-Zighelboim E; Instituto Nacional de Salud del Niño, Lima, Peru.; Gallardo Jugo BE; Instituto Nacional de Salud del Niño, Lima, Peru.; Chávez Pastor M; Instituto Nacional de Salud del Niño, Lima, Peru.; Abarca-Barriga HH; Instituto Nacional de Salud del Niño, Lima, Peru.; Skinner SA; Greenwood Genetic Center, Greenwood, South Carolina.; Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina.; Badoe E; School of Medicine and Dentistry,Department of Child Health, College of Health Sciences, Accra, Ghana.; Gill AD; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Shotelersuk V; Faculty of Medicine,Center of Excellence for Medical Genetics, Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand.; Smpokou P; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Kisling MS; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Ferreira CR; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Mutesa L; Center of Human Genetics, School of Medicine and Pharmacy, College of Medicine and Pharmacy, University of Rwanda, Kigali, Rwanda.; Megarbane A; Institut Jérôme Lejeune, Paris, France.; Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.; Kimball A; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.; Okello E; Uganda Heart Institute, Kampala, Uganda.; Lwabi P; Uganda Heart Institute, Kampala, Uganda.; Aliku T; Uganda Heart Institute, Kampala, Uganda.; Tenywa E; Uganda Heart Institute, Kampala, Uganda.; Jinja Regional Referral Hospital, Jinja, Uganda.; Boonchooduang N; Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, Chiangmai University, Chiang Mai, Thailand.; Tanpaiboon P; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Richieri-Costa A; Hospital for the Rehabilitation of Craniofacial Anomalies, São Paulo University, Bauru, Brazil.; Wonkam A; Division of Human Genetics, University of Cape Town, Cape Town, South Africa.; Chung BHY; LKS Faculty of Medicine, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina.; Summar M; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Mandal K; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.; Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.; Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Linguraru MG; Children's National Health System, Sheikh Zayed Institute for Pediatric Surgical Innovation, Washington, District of Columbia.; Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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

Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; McGinn DE; Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Porras AR; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, D.C.; Biggs E; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, D.C.; Share M; Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Crowley TB; Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Chung BH; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Mok GT; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Mak CC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Muthukumarasamy P; Faculty of Medicine, Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.; Thong MK; Faculty of Medicine, Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.; Sirisena ND; Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.; Dissanayake VH; Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.; Paththinige CS; Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.; Prabodha LB; Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.; Mishra R; Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.; Shotelersuk V; Center of Excellence for Medical Genetics, Faculty of Medicine, Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand.; Ekure EN; Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching, Lagos, Nigeria.; Sokunbi OJ; Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching, Lagos, Nigeria.; Kalu N; Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching, Lagos, Nigeria.; Ferreira CR; Division of Genetics and Metabolism, Children's National Health System, Washington, D.C.; Duncan JM; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Patil SJ; Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India.; Jones KL; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Kaplan JD; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Abdul-Rahman OA; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Uwineza A; Center of Human Genetics/School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.; Mutesa L; Center of Human Genetics/School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.; Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Richieri-Costa A; Hospital for the Rehabilitation of Craniofacial Anomalies, São Paulo University, Bauru, Brazil.; Gil-da-Silva-Lopes VL; Department of Medical Genetics, University of Campinas, São Paulo, Brazil.; Adeyemo AA; Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Summar M; Division of Genetics and Metabolism, Children's National Health System, Washington, D.C.; Zackai EH; Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; McDonald-McGinn DM; Division of Human Genetics, 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Linguraru MG; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, D.C.; Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Boothe E; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA. eboothe@umc.edu.; West B; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.; Hendon LG; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.; Fetal Center, Department of Obstetrics and Gynecology, University of Mississippi Medical Center, Jackson, MS, USA.; Kaplan JD; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.; Kirmse B; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.

Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 8501884 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5543 (Electronic) Linking ISSN: 07438346 NLM ISO Abbreviation: J Perinatol Subsets: MEDLINE

Gripp KW; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Smithson SF; Department of Clinical Genetics, University Hospitals Bristol and Weston, Bristol, UK.; Scurr IJ; Department of Clinical Genetics, University Hospitals Bristol and Weston, Bristol, UK.; Baptista J; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.; College of Medicine and Health, University of Exeter, Exeter, UK.; Majumdar A; Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK.; Pierre G; Department of Paediatric Metabolic Medicine, Bristol Royal Hospital for Children, Bristol, UK.; Williams M; Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK.; Henderson LB; GeneDx, Gaithersburg, MD, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD, USA.; McLaughlin H; Invitae, San Francisco, CA, USA.; Leeuwen L; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Dinulos MBP; Section of Genetics and Child Development, Children's Hospital at Dartmouth, Lebanon, NH, USA.; Kaplan JD; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; McRae A; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.; Good JM; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. kkutsche@uke.de.

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

Lin AE; Genetics Unit, Massachusetts General Hospital, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts. lin.angela@mgh.harvard.edu.; Michot C; INSERM UMR1163 Unit, Department of Genetics, Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants-Malades Hospital, Paris, France.; Cormier-Daire V; INSERM UMR1163 Unit, Department of Genetics, Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants-Malades Hospital, Paris, France.; L'Ecuyer TJ; Division of Cardiology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.; Matherne GP; Division of Cardiology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.; Barnes BH; Division of Gastroenterology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.; Humberson JB; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.; Edmondson AC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Zackai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; O'Connor MJ; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Kaplan JD; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Ebeid MR; Division of Cardiology, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Krier J; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.; Krieg E; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.; Ghoshhajra B; Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Lindsay ME; Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Pediatric Cardiology, Department of Pediatrics, MassGeneral Hospital for Children, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Cardiovascular Research Center, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

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

Kaplan JD; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA. jkaplan@peds.umaryland; Bernstein JA; Kwan A; Hudgins L

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Kaplan JD; Cleveland Clinic Foundation, Cleveland, Ohio; Stewart B; University of Edinburgh, Edinburgh, United Kingdom; Prasov L; University of Michigan Medical School, Ann Arbor, Michigan; Pyle LC; Children's National Medical Center, Washington, DC

Publisher: University of Washington, Seattle Cited Medium: Internet