부산대학교 도서관

Bormans EMG; Amalia Children’s Hospital, Radboud University Medical Centre, Department of Pediatric Neurology, Nijmegen, The Netherlands; Schuurs-Hoeijmakers JHM; Radboud University Medical Centre, Radboud University Medical Centre, Expert Centre for PHTS, Department of Human Genetics, Nijmegen, the Netherlands; van Setten P; Amalia Children’s Hospital, Radboud University Medical Centre, Department of Pediatric Endocrinology, Nijmegen, The Netherlands; Hendricks LAJ; Radboud University Medical Centre, Radboud University Medical Centre, Expert Centre for PHTS, Department of Human Genetics, Nijmegen, the Netherlands; Radboud University Medical Centre, Radboud Institute for Medical Innovation, Nijmegen, The Netherlands; Drissen MMCM; Radboud University Medical Centre, Radboud University Medical Centre, Expert Centre for PHTS, Department of Human Genetics, Nijmegen, the Netherlands; Radboud University Medical Centre, Radboud Institute for Medical Innovation, Nijmegen, The Netherlands; Gotthardt M; Radboud University Medical Center, Department of Medical Imaging and Nuclear Medicine, Nijmegen, The Netherlands; Claahsen-van der Grinten HL; Amalia Children’s Hospital, Radboud University Medical Centre, Department of Pediatric Endocrinology, Nijmegen, The Netherlands; Hoogerbrugge N; Radboud University Medical Centre, Radboud University Medical Centre, Expert Centre for PHTS, Department of Human Genetics, Nijmegen, the Netherlands; Radboud University Medical Centre, Radboud Institute for Medical Innovation, Nijmegen, The Netherlands; Schieving JH; Amalia Children’s Hospital, Radboud University Medical Centre, Department of Pediatric Neurology, Nijmegen, The Netherlands

Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE

Anne Hebert; Annet Simons; Janneke HM Schuurs-Hoeijmakers; Hans JPM Koenen; Evelien Zonneveld-Huijssoon; Stefanie SV Henriet; Ellen JH Schatorjé; Esther PAH Hoppenreijs; Erika KSM Leenders; Etienne JM Janssen; Gijs WE Santen; Sonja A de Munnik; Simon V van Reijmersdal; Esther van Rijssen; Simone Kersten; Mihai G Netea; Ruben L Smeets; Frank L van de Veerdonk; Alexander Hoischen; Caspar I van der Made

eLife, Vol 11 (2022)

Hebert, Anne; Simons, Annet; Schuurs-Hoeijmakers, Janneke HM; Koenen, Hans JPM; Zonneveld-Huijssoon, Evelien; Henriet, Stefanie SV; Schatorjé, Ellen JH; Hoppenreijs, Esther PAH; Leenders, Erika KSM; Janssen, Etienne JM; Santen, Gijs WE; de Munnik, Sonja A; van Reijmersdal, Simon V; van Rijssen, Esther; Kersten, Simone; Netea, Mihai G; Smeets, Ruben L; van de Veerdonk, Frank L; Hoischen, Alexander; van der Made, Caspar I

eLife
eLife, Vol 11 (2022)
Elife, 11
Elife

Bernier R; Golzio C; Xiong B; Stessman HA; Coe BP; Penn O; Witherspoon K; Gerdts J; Baker C; Vulto van Silfhout AT; Schuurs Hoeijmakers JH; FICHERA, Marco; Bosco P; Buono S; Alberti A; Failla P; Peeters H; Steyaert J; Vissers LE; Francescatto L; Mefford HC; Rosenfeld JA; Bakken T; O'Roak BJ; Pawlus M; Moon R; Shendure J; Amaral DG; Lein E; Rankin J; Romano C; de Vries BB; Katsanis N; Eichler E.E.

Cell, pp. 263-76
Cell

Vorsteveld EE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Van der Made CI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.; Smeekens SP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Astuti G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Diepstra H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Hoenselaar E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Janssen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Roozendaal K; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Engelen JS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Weiss MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Mantere T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Oulu, Finland.; AlZahrani MS; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; van Aerde K; Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.; Derfalvi B; Division of Immunology, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.; Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Henriet SSV; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; van Hoof E; Department of Rheumatology, Radboud University Medical Center, Nijmegen, The Netherlands.; Idressi E; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Issekutz TB; Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.; Jongmans MCJ; Princess Máxima Center for Pediatric Oncology and Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Keski-Filppula R; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland; Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland.; Krapels I; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Te Loo M; Department of Pediatric Hematology, Amalia children's hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.; Mulders-Manders CM; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands.; Ten Oever J; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands.; Potjewijd J; Department of Internal Medicine, Division of Experimental and Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands.; Sarhan NT; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.; Slot MC; Department of Allergology and Clinical Immunology, Maastricht UMC+, Maastricht, The Netherlands.; Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Thijs H; Department of Pediatrics, Gelre Ziekenhuizen Zutphen, The Netherlands.; Vandersteen A; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.; Vanhoutte EK; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van de Veerdonk F; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands.; van Well G; Department of Paediatrics, Maastricht University Medical Center, MosaKids Children's Hospital, Maastricht, The Netherlands.; Netea MG; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands; Department of Immunology and Metabolism, Life and Medical Sciences Institute, University of Bonn, Bonn, Germany.; Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: alexander.hoischen@radboudumc.nl.

Publisher: Academic Press Country of Publication: United States NLM ID: 100883537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-7035 (Electronic) Linking ISSN: 15216616 NLM ISO Abbreviation: Clin Immunol Subsets: MEDLINE

Drissen MMCM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Vos JR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Collado Camps E; Department of Tumour Immunology, Radboud University Medical Center, Nijmegen, the Netherlands.; Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Schieving JH; Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.; Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: Nicoline.Hoogerbrugge@radboudumc.nl.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Anne Hebert; Annet Simons; Janneke HM Schuurs-Hoeijmakers; Hans JPM Koenen; Evelien Zonneveld-Huijssoon; Stefanie SV Henriet; Ellen JH Schatorjé; Esther PAH Hoppenreijs; Erika KSM Leenders; Etienne JM Janssen; Gijs WE Santen; Sonja A de Munnik; Simon V van Reijmersdal; Esther van Rijssen; Simone Kersten; Mihai G Netea; Ruben L Smeets; Frank L van de Veerdonk; Alexander Hoischen; Caspar I van der Made

Verkouteren BJ; Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands babette.verkouteren@mumc.nl.; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Roemen GM; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Department of Pathology, Maastricht University Medical Center+, Maastricht, The Netherlands.; Schuurs-Hoeijmakers JH; Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Abdul Hamid M; Department of Pathology, Maastricht University Medical Center+, Maastricht, The Netherlands.; van Geel M; Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands.; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Speel EM; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Department of Pathology, Maastricht University Medical Center+, Maastricht, The Netherlands.; Mosterd K; Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands.; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.

Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0376601 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-4146 (Electronic) Linking ISSN: 00219746 NLM ISO Abbreviation: J Clin Pathol Subsets: MEDLINE

Drissen MMCM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, the Netherlands.; Schieving JH; Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.; Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Vos JR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, the Netherlands.; Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands. Electronic address: Nicoline.Hoogerbrugge@radboudumc.nl.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Mannucci I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Dang NDP; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA.; Huber H; Department of Biochemistry, Theodor Boveri Institute, Biocenter of the University of Würzburg, 97070, Würzburg, Germany.; Murry JB; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA.; Abramson J; Department of Physiology, University of California Los Angeles, Los Angeles, CA, USA.; Althoff T; Department of Physiology, University of California Los Angeles, Los Angeles, CA, USA.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Baynam G; Faculty of Medicine and Health Sciences, University of Western Australia, Perth, WA, Australia.; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.; Telethon Kids Institute, Perth, Australia.; Bearden D; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA.; Beleza-Meireles A; Clinical Genetics Department, University Hospitals Bristol and Weston, Bristol, UK.; Benke PJ; Joe DiMaggio Children's Hospital, Hollywood, FL, USA.; Berland S; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Bilan F; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.; Laboratoire de Neurosciences Cliniques et Expérimentales-INSERM U1084, Université de Poitiers, Poitiers, France.; Bindoff LA; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; Department of Neurology, Haukeland University Hospital, Bergen, Norway.; Braathen GJ; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Chenbhanich J; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Denecke J; Department of Pediatrics, University Medical Center Eppendorf, 20246, Hamburg, Germany.; Escobar LF; Peyton Manning Children's Hospital, Ascension Health, Indianapolis, IN, USA.; Estes C; Peyton Manning Children's Hospital, Ascension Health, Indianapolis, IN, USA.; Fleischer J; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, 62702, USA.; Groepper D; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, 62702, USA.; Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Holler-Managan Y; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Houge G; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway.; Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Kellogg L; Kaiser Permanente Sacramento, Sacramento, USA.; Keren B; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Kiraly-Borri C; Genetic Services of Western Australia, Perth, Western Australia, 6008, Australia.; Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Le Guyader G; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.; Laboratoire de Neurosciences Cliniques et Expérimentales-INSERM U1084, Université de Poitiers, Poitiers, France.; Ljungblad UW; Department of Pediatrics, Vestfold Hospital, 3116, Tønsberg, Norway.; Brenman LM; Department of Genetics, Kaiser Permanente Northern California, Oakland, USA.; Martinez-Agosto JA; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA.; Semel Institute of Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.; Department of Pediatrics, Division of Medical Genetics at David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics at David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, USA.; Might M; Department of Medicine, Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, 510 20th St S, Birmingham, AL, 35210, USA.; Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Minks KQ; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA.; Moghaddam B; Kaiser Permanente Sacramento, Sacramento, USA.; Nava C; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Nelson SF; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics at David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, USA.; Center for Duchenne Muscular Dystrophy, University of California Los Angeles, Los Angeles, CA, USA.; Parant JM; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA.; Prescott T; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Randrianaivo H; UF de Génétique Médicale, GHSR, CHU de La Réunion, Saint Pierre, La Réunion, France.; Reiter SF; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway.; Schuurs-Hoeijmakers J; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.; Shieh PB; Department of Neurology at David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Smithson S; Clinical Genetics Department, University Hospitals Bristol and Weston, Bristol, UK.; Stegmann APA; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Tomczak K; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Wang J; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA.; Whitlock JH; Department of Medicine, Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, 510 20th St S, Birmingham, AL, 35210, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010, Bern, Switzerland.; McWalter K; GeneDx, Gaithersburg, MD, 20877, USA.; Juusola J; GeneDx, Gaithersburg, MD, 20877, USA.; Quintero-Rivera F; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, School of Medicine, University of California Irvine, Irvine, CA, USA.; Fischer U; Department of Biochemistry, Theodor Boveri Institute, Biocenter of the University of Würzburg, 97070, Würzburg, Germany.; Yeo NC; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA. nyeo@uab.edu.; Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. kreienkamp@uke.de.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. d.lessel@uke.de.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Langereis JD; Department of Laboratory Medicine Laboratory of Medical Immunology Radboud Institute for Molecular Life Sciences Radboudumc Nijmegen The Netherlands.; Radboud Center for Infectious Diseases Radboudumc Nijmegen The Netherlands.; van der Molen RG; Department of Laboratory Medicine Laboratory of Medical Immunology Radboud Institute for Molecular Life Sciences Radboudumc Nijmegen The Netherlands.; de Kat Angelino C; Department of Laboratory Medicine Laboratory of Medical Immunology Radboud Institute for Molecular Life Sciences Radboudumc Nijmegen The Netherlands.; Henriet SS; Pediatric Infectious Diseases and Immunology Amalia Children's Hospital Nijmegen The Netherlands.; Expertise Center for Immunodeficiency and Autoinflammation (REIA) Radboudumc Nijmegen The Netherlands.; de Jonge MI; Department of Laboratory Medicine Laboratory of Medical Immunology Radboud Institute for Molecular Life Sciences Radboudumc Nijmegen The Netherlands.; Radboud Center for Infectious Diseases Radboudumc Nijmegen The Netherlands.; Joosten I; Department of Laboratory Medicine Laboratory of Medical Immunology Radboud Institute for Molecular Life Sciences Radboudumc Nijmegen The Netherlands.; Simons A; Department of Human Genetics Radboudumc Nijmegen The Netherlands.; Schuurs-Hoeijmakers JH; Department of Human Genetics Radboudumc Nijmegen The Netherlands.; van Deuren M; Expertise Center for Immunodeficiency and Autoinflammation (REIA) Radboudumc Nijmegen The Netherlands.; Department of Internal Medicine Division of Infectious Diseases Radboudumc Nijmegen The Netherlands.; van Aerde K; Pediatric Infectious Diseases and Immunology Amalia Children's Hospital Nijmegen The Netherlands.; Expertise Center for Immunodeficiency and Autoinflammation (REIA) Radboudumc Nijmegen The Netherlands.; van der Flier M; Pediatric Infectious Diseases and Immunology Amalia Children's Hospital Nijmegen The Netherlands.; Expertise Center for Immunodeficiency and Autoinflammation (REIA) Radboudumc Nijmegen The Netherlands.; Present address: Pediatric Infectious Diseases and Immunology Wilhelmina Children's Hospital UMC Utrecht Utrecht The Netherlands.

Publisher: John Wiley & Sons Australia, Ltd. on behalf of Australasian Society for Immunology Inc Country of Publication: Australia NLM ID: 101638268 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0068 (Print) Linking ISSN: 20500068 NLM ISO Abbreviation: Clin Transl Immunology Subsets: PubMed not MEDLINE

Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Landsverk ML; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, and Sanford Children's Health Research Center, Sanford Research, Sioux Falls, South Dakota.; Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; Faculty of Medicine, University of Southampton, Southampton, United Kingdom.; Kukolich MK; Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas.; Gavrilova RH; Department of Neurology, Mayo Clinic, Rochester, Minnesota.; Medical Genetics, Mayo Clinic, Rochester, Minnesota.; Greville-Heygate S; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; Faculty of Medicine, University of Southampton, Southampton, United Kingdom.; Hanson-Kahn A; Department of Genetics, Stanford University School of Medicine, Stanford, California.; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.; Glass J; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Burrow TA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.; Husami A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Collins K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Wusik K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; van der Aa N; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; Kooy F; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; Brown KT; Southwest Thames Regional Genetics Centre, St George's Healthcare NHS Trust, London, United Kingdom.; Gadzicki D; MVZ Endokrinologikum Hannover, Hannover, Germany.; Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.; Alvarez S; NIMgenetics, Madrid, Spain.; Fernández-Jaén A; School of Medicine, European University of Madrid, Spain.; Neuropediatric Department, 'Quiron' University Hospital, Spain.; McGehee F; Consultant, Cook Children's Physician Network.; Selby K; Child & family Research Institute, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.; Division of Pediatric Neurology, Department of Pediatrics, B.C. Children's & Women's Hospital, Vancouver, British Columbia, Canada.; Tarailo-Graovac M; Centre for Molecular Medicine and Therapeutics (TIDE-BC), Department of Pediatrics and Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Van Allen M; Child and family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; van Karnebeek CD; Centre for Molecular Medicine and Therapeutics (TIDE-BC), Department of Pediatrics and Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Stavropoulos DJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto, Ontario, Canada.; Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto, Ontario, Canada.; Merico D; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Chu YW; Department of Paediatrics & Adolescent Medicine, Centre for Genomic Sciences, LKS Faculty of Medicine, the University of Hong Kong, Hong Kong.; Chung BH; Department of Paediatrics & Adolescent Medicine, Centre for Genomic Sciences, LKS Faculty of Medicine, the University of Hong Kong, Hong Kong.; de Vries BB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Devriendt K; Centre for Human Genetics, KU Leuven, Leuven, Belgium.; Hurles ME; Human Genetics, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

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

Ba W; Department of Human Genetics, Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.; Yan Y; Department of Neuroscience, UCONN Health Center, Farmington, CT 06030, USA.; Reijnders MR; Department of Human Genetics.; Schuurs-Hoeijmakers JH; Department of Human Genetics.; Feenstra I; Department of Human Genetics.; Bongers EM; Department of Human Genetics.; Bosch DG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands, Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands and.; De Leeuw N; Department of Human Genetics.; Pfundt R; Department of Human Genetics.; Gilissen C; Department of Human Genetics.; De Vries PF; Department of Human Genetics.; Veltman JA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands, Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; Hoischen A; Department of Human Genetics.; Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA, Howard Hughes Medical Institute, Seattle, WA 98195, USA.; Vissers LE; Department of Human Genetics.; Nadif Kasri N; Department of Human Genetics, Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands, bert.devries@radboudumc.nl n.nadif@donders.ru.nl.; De Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands, bert.devries@radboudumc.nl n.nadif@donders.ru.nl.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Coe BP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.; Witherspoon K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.; Rosenfeld JA; Signature Genomics Laboratories, LLC, PerkinElmer, Inc., Spokane, Washington, USA.; van Bon BW; 1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. [2] SA Pathology, North Adelaide, South Australia, Australia.; Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Bosco P; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy.; Friend KL; SA Pathology, North Adelaide, South Australia, Australia.; Baker C; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.; Buono S; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy.; Vissers LE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Krumm N; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.; Carvill GL; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Li D; Representing the Autism Phenome Project, MIND Institute, University of California, Davis, Sacramento, California, USA.; Amaral D; Representing the Autism Phenome Project, MIND Institute, University of California, Davis, Sacramento, California, USA.; Brown N; 1] Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia. [2] Barwon Child Health Unit, Barwon Health, Geelong, Victoria, Australia.; Lockhart PJ; 1] Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia. [2] Murdoch Childrens Research Institute, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.; Scheffer IE; Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia.; Alberti A; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy.; Shaw M; SA Pathology, North Adelaide, South Australia, Australia.; Pettinato R; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy.; Tervo R; Division of Developmental and Behavioral Pediatrics, Mayo Clinic, Rochester, Minnesota, USA.; de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Reijnders MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Torchia BS; Signature Genomics Laboratories, LLC, PerkinElmer, Inc., Spokane, Washington, USA.; Peeters H; 1] Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium. [2] Leuven Autism Research (LAuRes), Leuven, Belgium.; O'Roak BJ; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2].; Fichera M; 1] IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy. [2].; Hehir-Kwa JY; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Shendure J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.; Mefford HC; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Haan E; 1] SA Pathology, North Adelaide, South Australia, Australia. [2] School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.; Gécz J; 1] SA Pathology, North Adelaide, South Australia, Australia. [2] Robinson Institute, University of Adelaide, Adelaide, South Australia, Australia.; de Vries BB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Romano C; IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Associazione Oasi Maria Santissima, Troina, Italy.; Eichler EE; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, Seattle, Washington, USA.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Siemiatkowska AM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Bosch DG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands3Bartimeus Institute for the Visually Impaired, Zeist, the Netherlands.; Boonstra FN; Bartimeus Institute for the Visually Impaired, Zeist, the Netherlands4Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Riemslag FC; Bartimeus Institute for the Visually Impaired, Zeist, the Netherlands5The Rotterdam Eye Hospital, Rotterdam, the Netherlands.; Ruiter M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; de Vries BB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands4Donders Institute for Brain, Cognition and Behavior, Rad.; den Hollander AI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands6Department of Ophthalmology, Radboud University Medical.; Collin RW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE

Gómez-Herreros F; 1] Genome Damage and Stability Centre, School of Biological Sciences, University of Sussex, Sussex, UK. [2].; Schuurs-Hoeijmakers JH; 1] Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. [2] Department of Cognitive Neurosciences, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands. [3].; McCormack M; 1] Molecular and Cellular Therapeutics, The Royal College of Surgeons in Ireland, Dublin, Ireland. [2].; Greally MT; National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.; Rulten S; Genome Damage and Stability Centre, School of Biological Sciences, University of Sussex, Sussex, UK.; Romero-Granados R; Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER), Departamento de Genética, CSIC (Centro Superior de Investigaciones Científicas)-Universidad de Sevilla, Sevilla, Spain.; Counihan TJ; Department of Neurology, University Hospital Galway, Galway, Ireland.; Chaila E; Division of Neurology, Beaumont Hospital, Dublin, Ireland.; Conroy J; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Ennis S; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Delanty N; 1] Molecular and Cellular Therapeutics, The Royal College of Surgeons in Ireland, Dublin, Ireland. [2] Division of Neurology, Beaumont Hospital, Dublin, Ireland.; Cortés-Ledesma F; Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER), Departamento de Genética, CSIC (Centro Superior de Investigaciones Científicas)-Universidad de Sevilla, Sevilla, Spain.; de Brouwer AP; 1] Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. [2] Department of Cognitive Neurosciences, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.; Cavalleri GL; Molecular and Cellular Therapeutics, The Royal College of Surgeons in Ireland, Dublin, Ireland.; El-Khamisy SF; 1] Kreb's Institute, Department of Molecular Biology and Biotechnology, University of Sheffield, Sheffield, UK. [2] Center of Genomics, Helmy Institute, Zewail City of Science and Technology, Giza, Egypt.; de Vries BB; 1] Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. [2] Department of Cognitive Neurosciences, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.; Caldecott KW; Genome Damage and Stability Centre, School of Biological Sciences, University of Sussex, Sussex, UK.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Helsmoortel C; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Vulto-van Silfhout AT; 1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands. [2].; Coe BP; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA. [3].; Vandeweyer G; 1] Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. [2] Biomedical informatics research center Antwerpen (Biomina), Department of Mathematics and Computer Science, University of Antwerp, Edegem, Belgium.; Rooms L; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; van den Ende J; University Hospital Antwerp, Antwerp, Belgium.; Schuurs-Hoeijmakers JH; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.; Marcelis CL; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.; Willemsen MH; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.; Vissers LE; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.; Yntema HG; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.; Bakshi M; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia.; Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Westmead, Australia.; Witherspoon KT; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.; Malmgren H; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Nordgren A; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Annerén G; Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.; Fichera M; 1] Unit of Neurology, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy. [2] Medical Genetics, University of Catania, Catania, Italy.; Bosco P; Laboratory of Cytogenetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.; Romano C; Unit of Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.; de Vries BB; 1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands. [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Kleefstra T; 1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands. [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Eichler EE; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.; Van der Aa N; 1] Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. [2] University Hospital Antwerp, Antwerp, Belgium.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Vulto-van Silfhout AT; Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.; Hehir-Kwa JY; van Bon BW; Schuurs-Hoeijmakers JH; Meader S; Hellebrekers CJ; Thoonen IJ; de Brouwer AP; Brunner HG; Webber C; Pfundt R; de Leeuw N; de Vries BB

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

Makrythanasis P; Departement of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.; van Bon BW; Steehouwer M; Rodríguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EM; Del Campo M; Cordeiro I; Cueto-González AM; Cuscó I; Deshpande C; Frysira E; Izatt L; Flores R; Galán E; Gener B; Gilissen C; Granneman SM; Hoyer J; Yntema HG; Kets CM; Koolen DA; Marcelis Cl; Medeira A; Micale L; Mohammed S; de Munnik SA; Nordgren A; Psoni S; Reardon W; Revencu N; Roscioli T; Ruiterkamp-Versteeg M; Santos HG; Schoumans J; Schuurs-Hoeijmakers JH; Silengo MC; Toledo L; Vendrell T; van der Burgt I; van Lier B; Zweier C; Reymond A; Trembath RC; Perez-Jurado L; Dupont J; de Vries BB; Brunner HG; Veltman JA; Merla G; Antonarakis SE; Hoischen A

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Wortmann SB; Department of Pediatrics, Radboud University Nijmegen Medical Centre (RUNMC), Nijmegen, The Netherlands. s.wortmann@cukz.umcn.nl; Vaz FM; Gardeitchik T; Vissers LE; Renkema GH; Schuurs-Hoeijmakers JH; Kulik W; Lammens M; Christin C; Kluijtmans LA; Rodenburg RJ; Nijtmans LG; Grünewald A; Klein C; Gerhold JM; Kozicz T; van Hasselt PM; Harakalova M; Kloosterman W; Barić I; Pronicka E; Ucar SK; Naess K; Singhal KK; Krumina Z; Gilissen C; van Bokhoven H; Veltman JA; Smeitink JA; Lefeber DJ; Spelbrink JN; Wevers RA; Morava E; de Brouwer AP

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE