부산대학교 도서관

Zondag, TCE; Torralba-Raga, L; Van, Laar JAM; Hermans, MAW; Bouman, A; Hollink, IHIM; Van, Hagen PM; Briggs, DA; Hume, AN; Bryceson, YT

JOURNAL OF CLINICAL IMMUNOLOGY. 42(8):1685-1695

Akalu Y; Center for Genetic Errors of Immunity, Columbia University, New York, NY, USA.; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Taft J; Center for Genetic Errors of Immunity, Columbia University, New York, NY, USA.; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Berger T; Department of Pediatric Gastroenterology and Rheumatology, Children's Hospital Datteln, University Witten and Herdecke, Datteln, Germany.; Rostásy K; Department of Pediatric Neurology, Children's Hospital Datteln, University Witten and Herdecke, Datteln, Germany.; Dafsari HS; Department of Pediatrics, University of Cologne, Köln, Germany.; Max-Planck-Institute for Biology of Ageing, Köln, Germany.; Schönrade H; Department of Pediatrics, University of Cologne, Köln, Germany.; Cüceoğlu MK; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.; Özen S; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.; Faye A; Department of General Pediatrics, Pediatric Infectious Disease and Internal Medicine, Robert Debré University Hospital, Assistance Publique-Hôpitaux de Université Paris Cité Paris, Paris, France.; Melki I; Department of General Pediatrics, Paediatric Rheumatology Unit, Armand Trousseau Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, FHU INFLAMME, Paris, France.; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM U1163, Paris, France.; Dobroz I; Department of Child Neurology, LeukoFrance, Assistance Publique-Hôpitaux de Paris and UMR1141 Université Paris Cité-INSERM, Robert Debré University Hospital, Paris, France.; Boespflug-Tanguy O; Department of Child Neurology, LeukoFrance, Assistance Publique-Hôpitaux de Paris and UMR1141 Université Paris Cité-INSERM, Robert Debré University Hospital, Paris, France.; Kiykim A; Division of Immunology and Allergy, Department of Pediatrics, Istanbul University- Cerrahpasa, Istanbul, Turkey.; Sahin S; Department of Pediatric Rheumatology, Istanbul University-Cerrahpasa, Istanbul, Turkey.; Tahir Turanli E; Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Institute of Natural and Applied Sciences, Acibadem University, Istanbul, Turkey.; Akca ÜK; Department of Pediatric Rheumatology, Akdeniz University, Antalya, Turkey.; van Laar JAM; Departments of Internal Medicine and Immunology, Erasmus University Medical Center, Rotterdam, Netherlands.; van Pelt PA; Department of Rheumatology, Erasmus University Medical Center, Rotterdam, Netherlands.; Hollink IHIM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands.; Pimpale Chavan P; Department of Pediatric Rheumatology, SRCC Children's Hospital, Mumbai, India.; Khubchandani R; Department of Pediatric Rheumatology, SRCC Children's Hospital, Mumbai, India.; Department of Pediatrics, Jaslok and Breach Candy Hospitals, Mumbai, India.; Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, USA.; Bogunovic D; Center for Genetic Errors of Immunity, Columbia University, New York, NY, USA.; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Department of Pediatrics, Hiroshima University, Hiroshima, Japan.

Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 9919054337406676 Publication Model: eCollection Cited Medium: Internet ISSN: 3065-8993 (Electronic) Linking ISSN: 30658993 NLM ISO Abbreviation: J Hum Immun Subsets: PubMed not MEDLINE

Körholz J; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. Electronic address: Julia.koerholz@ukdd.de.; Tromp SAM; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Experimental Immunology, Amsterdam institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Dalm VASH; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Genetics, Erasmus, The Netherlands.; de Bie M; Erasmus MC, University Medical Center Rotterdam, Laboratory Medical Immunology, Department of Immunology, Erasmus, The Netherlands.; de Bree GJ; Department of Internal Medicine, Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; van Leeuwen EMM; Department of Experimental Immunology, Amsterdam institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Laboratory Medicine, Laboratory for Specialized Diagnostics and Research, Section Medical Immunology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Fraaij PLA; Erasmus MC, University Medical Center Rotterdam-Sophia Children's Hospital, Department of Pediatrics, Division of Pediatric Infectious Disease and Immunology, Erasmus, The Netherlands.; Jansen MH; Department of Experimental Immunology, Amsterdam institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Hollink IHIM; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Genetics, Erasmus, The Netherlands.; Nagelkerke SQ; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Russ S; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Scholze AK; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Soomann M; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.; Wiedemuth R; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Pachlopnik Schmid J; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland; University of Zurich, Zurich, Switzerland.; Hanitsch LG; Institute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt Universität zu Berlin and the Berlin Institute of Health (BIH), BIH Center for Regenerative Therapies, Berlin, Germany.; Schuetz C; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; German Center for Child and Adolescent Health (DZKJ), partner site Leipzig/Dresden, Dresden, Germany.; Kuijpers TW; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Experimental Immunology, Amsterdam institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; IJspeert H; Erasmus MC, University Medical Center Rotterdam, Laboratory Medical Immunology, Department of Immunology, Erasmus, The Netherlands.

Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE

Willasch, AM; Gruhn, B; COLIVA, TIZIANA ANGELA; Kalinova, M; Schneider, G; Kreyenberg, H; Steinbach, D; Weber, G; Hollink, IHIM; Zwaan, CM; BIONDI, ANDREA; van der Velden, VHJ; Reinhardt, D; Cazzaniga, G; Bader, P; Trka, J.

Leukemia. 23:1472-1479

Zhou Z; Laboratory Medical Immunology, Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Division of Clinical Immunology, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Erasmus MC, Academic Center for Rare Immunological Diseases (RIDC), University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hollink IHIM; Erasmus MC, Academic Center for Rare Immunological Diseases (RIDC), University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Bouman A; Erasmus MC, Academic Center for Rare Immunological Diseases (RIDC), University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Lourens MS; Laboratory Medical Immunology, Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Erasmus MC, Academic Center for Rare Immunological Diseases (RIDC), University Medical Center Rotterdam, Rotterdam, The Netherlands.; Brooimans RA; Laboratory Medical Immunology, Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Erasmus MC, Academic Center for Rare Immunological Diseases (RIDC), University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Fraaij PLA; Erasmus MC, Academic Center for Rare Immunological Diseases (RIDC), University Medical Center Rotterdam, Rotterdam, The Netherlands.; Division of Pediatric Infectious Disease and Immunology, Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam-Sophia Children's Hospital, Rotterdam, The Netherlands.; van Rossum AMC; Erasmus MC, Academic Center for Rare Immunological Diseases (RIDC), University Medical Center Rotterdam, Rotterdam, The Netherlands.; Division of Pediatric Infectious Disease and Immunology, Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam-Sophia Children's Hospital, Rotterdam, The Netherlands.; Zijtregtop EAM; Division of Pediatric Hemato-oncology, Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam-Sophia Children's Hospital, Rotterdam, The Netherlands.; Dik WA; Laboratory Medical Immunology, Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Erasmus MC, Academic Center for Rare Immunological Diseases (RIDC), University Medical Center Rotterdam, Rotterdam, The Netherlands.; Dalm VASH; Laboratory Medical Immunology, Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Division of Clinical Immunology, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Erasmus MC, Academic Center for Rare Immunological Diseases (RIDC), University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Hagen PM; Laboratory Medical Immunology, Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Division of Clinical Immunology, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Erasmus MC, Academic Center for Rare Immunological Diseases (RIDC), University Medical Center Rotterdam, Rotterdam, The Netherlands.; Ijspeert H; Laboratory Medical Immunology, Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Erasmus MC, Academic Center for Rare Immunological Diseases (RIDC), University Medical Center Rotterdam, Rotterdam, The Netherlands.; Vermont CL; Erasmus MC, Academic Center for Rare Immunological Diseases (RIDC), University Medical Center Rotterdam, Rotterdam, The Netherlands.; Division of Pediatric Infectious Disease and Immunology, Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam-Sophia Children's Hospital, Rotterdam, The Netherlands.

Publisher: Blackwell Publishing Country of Publication: England NLM ID: 9106718 Publication Model: Print Cited Medium: Internet ISSN: 1399-3038 (Electronic) Linking ISSN: 09056157 NLM ISO Abbreviation: Pediatr Allergy Immunol Subsets: MEDLINE

Elsink K; Department of Pediatric Immunology and Infectious Diseases, Wilhelmina's Children Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Huibers MMH; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Hollink IHIM; Department of Clinical Genetics, Erasmus Medical Center, Erasmus University Rotterdam, Rotterdam, Netherlands.; Simons A; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Centre, Radboud University, Nijmegen, Netherlands.; Radboud Institute for Oncology, Radboud University Medical Center, Radboud University, Nijmegen, Netherlands.; Zonneveld-Huijssoon E; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; van der Veken LT; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Leavis HL; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Henriet SSV; Department of Pediatric Infectious Diseases and Immunology, Amalia's Children Hospital, Radboud University Nijmegen Medical Centre, Radboud University, Nijmegen, Netherlands.; van Deuren M; Department of Internal Medicine, Radboud University Medical Center, Radboud Center for Infectious Diseases, Nijmegen, Netherlands.; van de Veerdonk FL; Department of Internal Medicine, Radboud University Medical Center, Radboud Center for Infectious Diseases, Nijmegen, Netherlands.; Potjewijd J; Department of Nephrology and Clinical Immunology, Maastricht University Medical Center, Maastricht University, Maastricht, Netherlands.; Berghuis D; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, Leiden University, Leiden, Netherlands.; Dalm VASH; Department of Internal Medicine, Division of Allergy & Clinical Immunology; Department of Immunology, Erasmus University Medical Center Rotterdam, Erasmus University Rotterdam, Rotterdam, Netherlands.; Vermont CL; Department of Pediatric Infectious Diseases, Immunology and Rheumatology, Sophia Children's Hospital, Erasmus Medical Center, Erasmus University Rotterdam, Rotterdam, Netherlands.; van de Ven AAJM; Department of Internal Medicine and Allergology, Rheumatology and Clinical Immunology, University Medical Center Groningen, Groningen, Netherlands.; Lambeck AJA; Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Abbott KM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; van Hagen PM; Department of Internal Medicine, Division of Allergy & Clinical Immunology; Department of Immunology, Erasmus University Medical Center Rotterdam, Erasmus University Rotterdam, Rotterdam, Netherlands.; de Bree GJ; Department of Internal Medicine, Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands.; Kuijpers TW; Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands.; Frederix GWJ; Julius Center for Health Sciences and Primary Care, University Medical Centre Utrecht, Utrecht, Netherlands.; van Gijn ME; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; van Montfrans JM; Department of Pediatric Immunology and Infectious Diseases, Wilhelmina's Children Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.

Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Hollink, IHIM; Feng, Q; Danen-van Oorschot, AA; Arentsen-Peters, STCJM; Verboon, LJ; Zhang, P; de Haas, V; Reinhardt, D; Creutzig, U; Trka, J; Pieters, R; van den Heuvel-Eibrink, MM; Wang, J; Zwaan, CM

Leukemia. Feb 01, 2012 26(2):371-373

Hollink, IHIM; Zwaan, CM; Zimmermann, M; Arentsen-Peters, TCJM; Pieters, R; Cloos, J; Kaspers, GJL; de Graaf, SSN; Harbott, J; Creutzig, U; Reinhardt, D; van den Heuvel-Eibrink, MM; Thiede, C

Leukemia. Feb 01, 2009 23(2):262-270

Balgobind, B V; Hollink, IHIM; Reinhardt, D; Bradtke, J; Teigler-Schlegel, A; von Bergh, A R; Cloos, J; Kaspers, G JL; van Wering, E R; Zemanova, Z; Stary, J; Cayuela, J; Baruchel, A; Pieters, R; van den Heuvel-Eibrink, M M; Zwaan, C M

British Journal of Haematology. Apr 01, 2008 141 Suppl 1:3-3

Blom M; Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.; Centre for Health Protection, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.; Bredius RGM; Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.; Jansen ME; Centre for Health Protection, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.; Weijman G; Department of Vaccine Supply and Prevention Programmes, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.; Kemper EA; Department of Clinical Chemistry, IJsselland Hospital, Capelle aan den IJssel, The Netherlands.; Vermont CL; Department of Pediatric Immunology and Infectious Diseases, Sophia Children's Hospital, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Hollink IHIM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Dik WA; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Department of Internal Medicine, Section Clinical Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; van Montfrans JM; Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; van Gijn ME; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands.; Henriet SS; Department of Pediatric Immunology and Infectious Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; van Aerde KJ; Department of Pediatric Immunology and Infectious Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Koole W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Lankester AC; Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.; Dekkers EHBM; Centre for Population Screening, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.; Schielen PCJI; Centre for Health Protection, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.; de Vries MC; Department of Medical Ethics and Health Law, Leiden University Medical Center, Leiden, The Netherlands.; Henneman L; Department of Clinical Genetics and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; van der Burg M; Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. m.van_der_burg@lumc.nl.

Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Dubbink HJ; Department of Pathology, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, The Netherlands.; Hollink IHIM; Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, The Netherlands.; Avenca Valente C; Department of Pathology, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, The Netherlands.; Wang W; Gastroenterology and Hepatology, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, The Netherlands.; Liu P; Gastroenterology and Hepatology, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, The Netherlands.; Doukas M; Department of Pathology, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, The Netherlands.; van Noesel MM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Dinjens WNM; Department of Pathology, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, The Netherlands.; Wagner A; Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, The Netherlands.; Smits R; Gastroenterology and Hepatology, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, The Netherlands.

Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

van Rij MC; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hollink IHIM; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.; Terhal PA; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Kant SG; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Kievit JA; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Belzen MJ; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

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

Blink, M; van den Heuvel-Eibrink, MM; Balgobind, B; Hollink, IHIM; de Haas, V; Kaspers, GJ; Reinhardt, D; Hasle, Henrik; Zwaan, CM

Blink, M, van den Heuvel-Eibrink, MM, Balgobind, B, Hollink, IHIM, de Haas, V, Kaspers, GJ, Reinhardt, D, Hasle, H & Zwaan, CM 2009, 'High frequency of copy number variations in Myeloid Leukemia og Down syndrome', Blood.

Joosse ME; Laboratory of Pediatrics, division Gastroenterology and Nutrition, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Charbit-Henrion F; Laboratory of Intestinal Immunity, Université de Paris, Imagine Institute, INSERM UMR 1163, Paris, France.; Department of Molecular Genetics, Université de Paris, Necker-Enfants Malades Hospital, Paris, France.; GENIUS group from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Boisgard R; Laboratory of Intestinal Immunity, Université de Paris, Imagine Institute, INSERM UMR 1163, Paris, France.; Raatgeep RHC; Laboratory of Pediatrics, division Gastroenterology and Nutrition, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Lindenbergh-Kortleve DJ; Laboratory of Pediatrics, division Gastroenterology and Nutrition, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Costes LMM; Laboratory of Pediatrics, division Gastroenterology and Nutrition, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Nugteren S; Laboratory of Pediatrics, division Gastroenterology and Nutrition, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Guegan N; Laboratory of Intestinal Immunity, Université de Paris, Imagine Institute, INSERM UMR 1163, Paris, France.; Parlato M; Laboratory of Intestinal Immunity, Université de Paris, Imagine Institute, INSERM UMR 1163, Paris, France.; Veenbergen S; Laboratory of Pediatrics, division Gastroenterology and Nutrition, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Malan V; Department of Cytogenetics, Université de Paris, Necker-Enfants Malades Hospital, Paris, France.; Nowak JK; Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Poznan, Poland.; Hollink IHIM; Department of Clinical Genetics Erasmus University Medical Center, Rotterdam, the Netherlands.; Mearin ML; Department of Pediatrics, Unit of Pediatric Gastroenterology, Leiden University Medical Center, Leiden, the Netherlands.; Escher JC; Department of Pediatric Gastroenterology, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Cerf-Bensussan N; Laboratory of Intestinal Immunity, Université de Paris, Imagine Institute, INSERM UMR 1163, Paris, France.; Samsom JN; Laboratory of Pediatrics, division Gastroenterology and Nutrition, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands. j.samsom@erasmusmc.nl.

Publisher: Elsevier Country of Publication: United States NLM ID: 101299742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1935-3456 (Electronic) Linking ISSN: 19330219 NLM ISO Abbreviation: Mucosal Immunol Subsets: MEDLINE

Tyler PM; Immunobiology Department, Yale University School of Medicine, New Haven, CT, USA.; Bucklin ML; Immunobiology Department, Yale University School of Medicine, New Haven, CT, USA.; Zhao M; Immunobiology Department, Yale University School of Medicine, New Haven, CT, USA.; Maher TJ; Immunobiology Department, Yale University School of Medicine, New Haven, CT, USA.; Rice AJ; Immunobiology Department, Yale University School of Medicine, New Haven, CT, USA.; Ji W; Pediatric Genomics Discovery Program, Yale University School of Medicine, New Haven, CT, USA.; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Warner N; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada.; Pan J; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada.; Morotti R; Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.; McCarthy P; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Griffiths A; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada.; van Rossum AMC; Department of Pediatrics, Division of Pediatric Infectious Diseases and Immunology, Erasmus University Medical Center, Rotterdam, the Netherlands.; Hollink IHIM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Dalm VASH; Department of Internal Medicine, Division of Clinical Immunology and Department of Immunology, Erasmus University Medical Center, Rotterdam, the Netherlands.; Catanzaro J; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Lakhani SA; Pediatric Genomics Discovery Program, Yale University School of Medicine, New Haven, CT, USA.; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Muise AM; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada.; Lucas CL; Immunobiology Department, Yale University School of Medicine, New Haven, CT, USA. Carrie.Lucas@yale.edu.; Pediatric Genomics Discovery Program, Yale University School of Medicine, New Haven, CT, USA. Carrie.Lucas@yale.edu.

Publisher: Nature America Inc Country of Publication: United States NLM ID: 100941354 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-2916 (Electronic) Linking ISSN: 15292908 NLM ISO Abbreviation: Nat Immunol Subsets: MEDLINE

Taft J; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Markson M; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Legarda D; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Patel R; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Chan M; Department of Immunology, Mayo Clinic, Rochester, MN, 55905, USA.; Malle L; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Richardson A; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Gruber C; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Martín-Fernández M; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015GD Rotterdam, the Netherlands.; van Laar JAM; Department of Immunology, Erasmus University Medical Center, 3015GD Rotterdam, the Netherlands.; van Pelt P; Department of Rheumatology, Erasmus University Medical Center, 3015GD Rotterdam, the Netherlands.; Buta S; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Wokke BHA; Department of Neurology, Erasmus University Medical Center, 3015GD Rotterdam, the Netherlands.; Sabli IKD; Department of Paediatric Infectious Diseases and Virology, Imperial College London, London, UK; Centre for Paediatrics and Child Health, Faculty of Medicine, Imperial College London, London, UK.; Sancho-Shimizu V; Department of Paediatric Infectious Diseases and Virology, Imperial College London, London, UK; Centre for Paediatrics and Child Health, Faculty of Medicine, Imperial College London, London, UK.; Chavan PP; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, 20892, USA; Pediatric Rheumatology, SRCC Children's Hospital, Mumbai, India.; Schnappauf O; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, 20892, USA.; Khubchandani R; Pediatric Rheumatology, SRCC Children's Hospital, Mumbai, India; Consultant Pediatrician, Jaslok and Breach Candy Hospitals, Mumbai, India.; Cüceoğlu MK; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.; Özen S; Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.; Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, 20892, USA.; Ting AT; Department of Immunology, Mayo Clinic, Rochester, MN, 55905, USA.; Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, 20892, USA.; Hollink IHIM; Department of Clinical Genetics, Erasmus University Medical Center, 3015GD Rotterdam, the Netherlands.; Bogunovic D; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA. Electronic address: dusan.bogunovic@mssm.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

Elsink K; Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht, University, Utrecht, The Netherlands.; Huibers MMH; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, University, Utrecht, The Netherlands.; Hollink IHIM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; van der Veken LT; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, University, Utrecht, The Netherlands.; Ernst RF; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, University, Utrecht, The Netherlands.; Simons A; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Oncology, Radboud University Medical Center, Nijmegen, The Netherlands.; Zonneveld-Huijssoon E; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; van der Hout AH; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Abbott KM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Hoischen A; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics and Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Pieterse M; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Kuijpers TW; Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; van Montfrans JM; Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht, University, Utrecht, The Netherlands.; van Gijn ME; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. m.e.van.gijn@umcg.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

van der Meij KRM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands.; Sistermans EA; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands. Electronic address: e.sistermans@amsterdamumc.nl.; Macville MVE; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229HX, Maastricht, the Netherlands.; Stevens SJC; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229HX, Maastricht, the Netherlands.; Bax CJ; Department of Obstetrics and Gynaecology, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands.; Bekker MN; Department of Obstetrics and Gynaecology, Utrecht University Medical Center, 3584CX Utrecht, the Netherlands.; Bilardo CM; Department of Obstetrics and Gynaecology, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands.; Boon EMJ; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands.; Boter M; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; Diderich KEM; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; de Die-Smulders CEM; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229HX, Maastricht, the Netherlands.; Duin LK; Department of Obstetry and Gynaecology, University Medical Centre Groningen, University of Groningen, 9713GZ Groningen, the Netherlands.; Faas BHW; Department of Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical Center, 6525GA Nijmegen, the Netherlands.; Feenstra I; Department of Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical Center, 6525GA Nijmegen, the Netherlands.; Haak MC; Department of Obstetrics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands.; den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands.; Hollink IHIM; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; Jehee FS; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; Knapen MFCM; Department of Obstetrics and Fetal Medicine, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; Kooper AJA; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands.; van Langen IM; Department of Genetics, University Medical Centre Groningen, University of Groningen, 9713GZ Groningen, the Netherlands.; Lichtenbelt KD; Department of Genetics, Utrecht University Medical Center, 3584CX Utrecht, the Netherlands.; Linskens IH; Department of Obstetrics and Gynaecology, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands.; van Maarle MC; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands.; Oepkes D; Department of Obstetrics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands.; Pieters MJ; Department of Obstetrics and Gynecology, Maastricht University Medical Center, 6229HX Maastricht, the Netherlands.; Schuring-Blom GH; Department of Genetics, Utrecht University Medical Center, 3584CX Utrecht, the Netherlands.; Sikkel E; Department of Obstetrics and Gynecology, Radboud University Medical Center, 6525GA Nijmegen, the Netherlands.; Sikkema-Raddatz B; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands.; Smeets DFCM; Department of Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical Center, 6525GA Nijmegen, the Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; Suijkerbuijk RF; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, the Netherlands.; Tan-Sindhunata GM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands.; van der Ven AJEM; Verloskundigenpraktijk Velp, 6883AX Velp, the Netherlands.; van Zelderen-Bhola SL; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands.; Henneman L; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands.; Galjaard RH; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; Van Opstal D; Department of Clinical Genetics, Erasmus Medical Center, 3015GD Rotterdam, the Netherlands.; Weiss MM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands.

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

Williams LB; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.; Javed A; Genome Institute of Singapore, Singapore, Singapore.; School of Biomedical Sciences, The University of Hong Kong, Hong Kong, Hong Kong.; Sabri A; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.; Morgan DJ; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.; Huff CD; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.; Department of Epidemiology, Division of OVP, Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Grigg JR; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.; Discipline of Ophthalmology, University of Sydney, Sydney, NSW, Australia.; Heng XT; Genome Institute of Singapore, Singapore, Singapore.; Khng AJ; Genome Institute of Singapore, Singapore, Singapore.; Hollink IHIM; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Morrison MA; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.; Owen LA; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.; Anderson K; Drs. Farley, Polo and Ho, Colonial Heights, VA, USA.; Kinard K; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.; Greenlees R; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.; Novacic D; National Institutes of Health, National Human Genome Research Institute, Undiagnosed Diseases Network, Bethesda, MD, USA.; Nida Sen H; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.; Zein WM; National Eye Institute, National Institutes of Health, Bethesda, MD, USA.; Rodgers GM; Department of Hematology, Utah Health Sciences Center, Salt Lake City, UT, USA.; Vitale AT; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.; Haider NB; Department of Ophthalmology, Schepens Eye Research Institute/Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.; Hillmer AM; Genome Institute of Singapore, Singapore, Singapore.; Ng PC; Genome Institute of Singapore, Singapore, Singapore.; Shankaracharya; Department of Epidemiology, Division of OVP, Cancer Prevention and Population Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Cheng A; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.; Zheng L; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia.; Gillies MC; Discipline of Ophthalmology, University of Sydney, Sydney, NSW, Australia.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; van Hagen PM; Department of Immunology, Erasmus MC, Rotterdam, The Netherlands.; Missotten TOAR; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.; Farley GL; Drs. Farley, Polo and Ho, Colonial Heights, VA, USA.; Polo M; Drs. Farley, Polo and Ho, Colonial Heights, VA, USA.; Malatack J; Nemours/Alfred I. DuPont Hospital for Children, Wilmington, DE, USA.; Curtin J; Department of Haematology, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Martin F; Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Arbuckle S; Department of Pathology, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Alexander SI; Department of Nephrology, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Chircop M; Cell Cycle Unit, Children's Medical Research Institute, University of Sydney, Sydney, NSW, Australia.; Davila S; Genome Institute of Singapore, Singapore, Singapore.; Digre KB; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA.; Jamieson RV; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Save Sight Institute, University of Sydney, Sydney, NSW, Australia. rjamieson@cmri.org.au.; Disciplines of Genomic Medicine, and Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia. rjamieson@cmri.org.au.; Department of Clinical Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Sydney, NSW, Australia. rjamieson@cmri.org.au.; DeAngelis MM; Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT, USA. margaret.deangelis@utah.edu.; Department of Pharmacotherapy, College of Pharmacy, University of Utah, Salt Lake City, UT, USA. margaret.deangelis@utah.edu.; Department of Population Health Sciences, University of Utah School of Medicine, Salt Lake City, UT, USA. margaret.deangelis@utah.edu.

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

Hollink IHIM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Alfadhel M; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdullah Specialized Children's Hospital, King Abdulaziz Mecial City, Riyadh, Saudi Arabia.; Al-Wakeel AS; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdullah Specialized Children's Hospital, King Abdulaziz Mecial City, Riyadh, Saudi Arabia.; Ababneh F; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdullah Specialized Children's Hospital, King Abdulaziz Mecial City, Riyadh, Saudi Arabia.; Pfundt R; Department of Human Genetics, Division of Genome Diagnostics, Radboud University Medical Centre, Nijmegen, The Netherlands.; de Man SA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands.; Abou Jamra R; Centogene AG, Rostock, Germany.; Rolfs A; Centogene AG, Rostock, Germany.; Albrecht-Kossel-Institute for Neuroregeneration, Medical University Rostock, Rostock, Germany.; Bertoli-Avella AM; Centogene AG, Rostock, Germany.; van de Laar IMBH; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands. i.vandelaar@erasmusmc.nl.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: PubMed not MEDLINE