Zobrazeno 1 - 10
of 23
pro vyhledávání: '"de Munnik SA"'
Autor:
Janssen AEJ; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Koeck RM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Essers R; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Cao P; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., van Dijk W; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Drüsedau M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Meekels J; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Yaldiz B; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., van de Vorst M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., de Koning B; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Sun SM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Heijligers M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., de Munnik SA; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., van Uum CMJ; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Achten J; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Hamers L; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Naghdi M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Faculty of Psychology and Neuroscience, Section Applied Social Psychology, Maastricht University, Maastricht, The Netherlands., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., van Golde RJT; Department of Obstetrics and Gynaecology, GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., de Wert G; Department of Health, Ethics and Society, GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; CAPHRI Research Institute for Public Health and Primary Care, Maastricht University, Maastricht, The Netherlands., Dreesen JCFM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., de Die-Smulders C; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Coonen E; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Obstetrics and Gynaecology, GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Zamani Esteki M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands. masoud.zamaniesteki@mumc.nl.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands. masoud.zamaniesteki@mumc.nl.; Division of Obstetrics and Gynaecology, Department of Clinical Science, Intervention & Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden. masoud.zamaniesteki@mumc.nl.
Publikováno v:
Nature communications [Nat Commun] 2024 Sep 02; Vol. 15 (1), pp. 7164. Date of Electronic Publication: 2024 Sep 02.
Autor:
Punt LD; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, The Netherlands., van der Kaay DCM; Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands., van Setten PA; Department of Paediatrics, Amalia Childrens Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., de Groote K; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, The Netherlands., Kruijsen AR; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, The Netherlands., Bocca G; Division of Paediatric Endocrinology, Department of Paediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., de Munnik SA; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Renes JS; Dutch Growth Research Foundation, Rotterdam, The Netherlands.; Department of Paediatrics, Albert Schweitzer Hospital, Dordrecht, The Netherlands., de Bruin C; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, The Netherlands., Losekoot M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., van Duyvenvoorde HA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Wit JM; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, The Netherlands., Joustra SD; Division of Paediatric Endocrinology, Department of Paediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Centre, Leiden, The Netherlands.
Publikováno v:
Hormone research in paediatrics [Horm Res Paediatr] 2024 Jun 28, pp. 1-11. Date of Electronic Publication: 2024 Jun 28.
Autor:
Faas BHW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Westra D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Munnik SA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., van Rij M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Joosten S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Krapels I; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Heijligers M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Smeekens SP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Stegmann SPA; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Macville M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Sikkel E; Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, The Netherlands., Coumans A; Department of Obstetrics and Gynaecology, Maastricht University Medical Centre, Maastricht, The Netherlands., Wijnberger L; Department of Obstetrics and Gynaecology, Rijnstate Hospital, Arnhem, The Netherlands., Derks I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Lent-Albrechts J; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Hofste T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Timmermans R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van den End J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Feenstra I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2023 Apr; Vol. 43 (4), pp. 527-543. Date of Electronic Publication: 2023 Feb 05.
Autor:
Hebert A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., Simons A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., Koenen HJPM; Department of Laboratory Medicine, Laboratory for Medical Immunology, Radboud University Medical Center, Nijmegen, Netherlands., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Henriet SSV; Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands., Schatorjé EJH; Department of Pediatric Rheumatology and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Hoppenreijs EPAH; Department of Pediatric Rheumatology and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Leenders EKSM; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., Janssen EJM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, Netherlands., Santen GWE; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., de Munnik SA; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., van Reijmersdal SV; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., van Rijssen E; Department of Laboratory Medicine, Laboratory for Medical Immunology, Radboud University Medical Center, Nijmegen, Netherlands., Kersten S; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands., Netea MG; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.; Department for Immunology and Metabolism, Life and Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germany., Smeets RL; Department of Laboratory Medicine, Laboratory for Medical Immunology, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Laboratory Medicine, Laboratory for Diagnostics, Radboud University Medical Center, Nijmegen, Netherlands., van de Veerdonk FL; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands., Hoischen A; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands., van der Made CI; Department of Human Genetics, Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands.
Publikováno v:
ELife [Elife] 2022 Oct 17; Vol. 11. Date of Electronic Publication: 2022 Oct 17.
Autor:
Van Bergen MGJM; Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Marneth AE; Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Department of Medicine, Division of Hematology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA., Hoogendijk AJ; Molecular Hematology and., Van Alphen FPJ; Molecular Hematology and., Van den Akker E; Department of Hematopoiesis, Sanquin Research, Amsterdam, The Netherlands., Laros-Van Gorkom BAP; Department of Hematology, Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, Nijmegen, The Netherlands., Hoeks M; Department of Hematology, Hemophilia Treatment Center Nijmegen-Eindhoven-Maastricht, Nijmegen, The Netherlands., Simons A; Department of Genetics, Radboudumc, Nijmegen, The Netherlands., De Munnik SA; Department of Genetics, Radboudumc, Nijmegen, The Netherlands., Janssen JJWM; Department of Hematology, Amsterdam University Medical Centers (UMC), Amsterdam, The Netherlands; and., Martens JHA; Department of Molecular Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands., Jansen JH; Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Meijer AB; Molecular Hematology and., Van der Reijden BA; Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Publikováno v:
Blood [Blood] 2021 Jul 08; Vol. 138 (1), pp. 86-90.
Autor:
van Geest FS; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, GD Rotterdam, The Netherlands., Meima ME; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, GD Rotterdam, The Netherlands., Stuurman KE; Department of Clinical Genetics, Erasmus Medical Center, GD Rotterdam, The Netherlands., Wolf NI; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centre, AZ Amsterdam, Netherlands.; Amsterdam Neuroscience, HV Amsterdam, Netherlands., van der Knaap MS; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centre, AZ Amsterdam, Netherlands.; Amsterdam Neuroscience, HV Amsterdam, Netherlands., Lorea CF; Teaching Hospital of Universidade Federal de Pelotas, Brazil., Poswar FO; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Vairo F; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Bakhtiani P; University of Louisville, Kentucky, USA., de Munnik SA; Department of Human Genetics, Radboud University Medical Centre Nijmegen, GA Nijmegen, the Netherlands., Peeters RP; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, GD Rotterdam, The Netherlands., Visser WE; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, GD Rotterdam, The Netherlands., Groeneweg S; Academic Center For Thyroid Disease, Department of Internal Medicine, Erasmus Medical Center, GD Rotterdam, The Netherlands.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2021 Jan 23; Vol. 106 (2), pp. 539-553.
Autor:
Cheng H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Capponi S; German Cancer Consortium (DKTK), partner site Freiburg, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, Heidelberg, Germany.; Department of Urology, Medical Faculty-University of Freiburg, Breisacher Str. 66, Freiburg, Germany., Wakeling E; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Harrow, UK., Marchi E; Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, USA., Li Q; Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, Ontario, Canada., Zhao M; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Weng C; Department of Biomedical Informatics, Columbia University Medical Center, New York, NY, USA., Stefan PG; Great Ormond Street Hospital, Great Ormond Street, London, UK., Ahlfors H; Great Ormond Street Hospital, Great Ormond Street, London, UK., Kleyner R; Stanley Institute for Cognitive Genomics, One Bungtown Road, Cold Spring Harbor Laboratory, NY, USA., Rope A; Kaiser Permanente Center for Health Research, Portland, OR, USA.; Genome Medical, South San Francisco, CA, USA., Lumaka A; Department of Biomedical and Preclinical Sciences, GIGA-R, Laboratory of Human Genetics, University of Liège, Liège, Belgium.; Institut National de Recherche Biomédicale, Kinshasa, DR, Congo.; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, DR, Congo., Lukusa P; Institut National de Recherche Biomédicale, Kinshasa, DR, Congo.; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, DR, Congo.; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium., Devriendt K; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium., Vermeesch J; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Palmer EE; Genetics of Learning Disability Service, Newcastle, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia., Murray L; Genetics of Learning Disability Service, Newcastle, NSW, Australia., Leon E; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA., Diaz J; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA., Worgan L; Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia., Mallawaarachchi A; Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia., Vogt J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., de Munnik SA; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands., Dreyer L; Genetic Services of Western Australia, Undiagnosed Diseases Program, Perth, Western Australia, Australia., Baynam G; Genetic Services of Western Australia, Undiagnosed Diseases Program, Perth, Western Australia, Australia.; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.; Telethon Kids Institute, Perth, Western Australia, Australia.; University of Western Australia, School of Medicine, Division of Paediatrics, Perth, Western Australia, Australia., Ewans L; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia., Gonçalves AR; Center for Medical Genetics Dr. Jacinto de Magalhães, Hospital and University Center of Porto, Porto, Portugal., Soares G; Center for Medical Genetics Dr. Jacinto de Magalhães, Hospital and University Center of Porto, Porto, Portugal., Oliveira J; Center for Medical Genetics Dr. Jacinto de Magalhães, Hospital and University Center of Porto, Porto, Portugal.; unIGENe, and Center for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Institute of Health Research and Innovation (i3S), University of Porto, Porto, Portugal., Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MI, USA., Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MI, USA., Waugh JL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Division of Pediatric Neurology, University of Texas Southwestern, Dallas, TX, USA., Faivre L; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France., Riviere JB; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France., Moutton S; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.; Reference Center for Developmental Anomalies, Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France., Mohammed S; Clinical Genetics, Guy's Hospital, Great Maze Pond, London, UK., Payne K; Indiana University School of Medicine, Department of Neurology, Indianapolis, IN., Walsh L; Indiana University School of Medicine, Department of Neurology, Indianapolis, IN., Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Douglas G; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Alexander N; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Buckley MF; New South Wales Health Pathology Genomic Laboratory, Prince of Wales Hospital, Randwick, Australia., Mark PR; Spectrum Health Division of Medical and Molecular Genetics, Grand Rapids, MI, USA., Adès LC; Department of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.; Department of Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Sandaradura SA; Department of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.; Department of Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; New South Wales Health Pathology Genomic Laboratory, Prince of Wales Hospital, Randwick, Australia.; Neuroscience Research Australia, University of New South Wales, Sydney, Australia., Agrawal PB; Divisions of Newborn Medicine and Genetics & Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA., Wang K; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Timmers HTM; German Cancer Consortium (DKTK), partner site Freiburg, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, Heidelberg, Germany.; Department of Urology, Medical Faculty-University of Freiburg, Breisacher Str. 66, Freiburg, Germany., Lyon GJ; Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, USA.; Stanley Institute for Cognitive Genomics, One Bungtown Road, Cold Spring Harbor Laboratory, NY, USA.; Biology PhD Program, The Graduate Center, The City University of New York, NY, USA.
Publikováno v:
Human mutation [Hum Mutat] 2019 Oct 23. Date of Electronic Publication: 2019 Oct 23.
Autor:
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., van der Werf IM; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Innes AM; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada., Afenjar A; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75013, Paris, France.; APHP, GHUEP, Hôpital Armand Trousseau, Centre de Référence 'Malformations et maladies congénitales du cervelet', 75012, Paris, France., Agrawal PB; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Anderson IJ; The University of Tennessee Genetics Center, Knoxville, TN, 37920, USA., Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA., van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Castiglia L; Laboratory of Medical Genetics, Oasi Research Institute, 94018, Troina, Italy., Coban-Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., van Dijck A; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Doummar D; APHP, Service de Neurologie pédiatrique, Hôpital Armand Trousseau, Paris, France.; Sorbonne Université,GRC ConCer-LD, AP-HP, Hôpital Trousseau, Paris, France.; Service de neuropediatrie, Hôpital Trousseau, 26 avenue du dr Arnold Netter, 75012, Paris, France., van Eerde AM; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., van Essen AJ; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands., van Gassen KL; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, 20877, USA., van Haelst MM; Department of Clinical Genetics, VU University Medical Center, 1081 HV, Amsterdam, The Netherlands., Iossifov I; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, NY, 11724, USA.; New York Genome Center, New York, NY, 10013, USA., Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA., Judd E; Department of Psychiatry, Washington University School of Medicine, St Louis, MO, 63110, USA., Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, 85259, USA.; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Keren B; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA., Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands., Meuwissen ME; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Monaghan KG; GeneDx, Gaithersburg, MD, 20877, USA., de Munnik SA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Université de Paris 06, 75013, Paris, France., Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Pettinato R; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy., Racher H; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada.; Impact Genetics, 1100 Bennett Road, Bowmanville, ON, L1C 3K5, Canada., Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Romano C; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy., Sanders VR; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL, 60611, USA., Schnur RE; GeneDx, Gaithersburg, MD, 20877, USA., Smeets EJ; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands., Stray-Pedersen A; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Norwegian National Unit for Newborn Screening, Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950 Nydalen, 0424, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, 0318, Oslo, Norway., Sweetser DA; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA., Terhal PA; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway., VanNoy GE; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., de Vries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Waxler JL; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA., Willing M; Department of Pediatrics, Washington University School of Medicine, St Louis, MO, 63110, USA., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Veltman JA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK., Kooy RF; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. bert.devries@radboudumc.nl.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 May; Vol. 27 (5), pp. 738-746. Date of Electronic Publication: 2019 Jan 24.
Autor:
Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Schwoerer JS, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Feb 07; Vol. 104 (2), pp. 357.
Autor:
Reynhout S; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), 3000 Leuven, Belgium; Leuven Brain Institute, PO Box 901, 3000 Leuven, Belgium., Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands., Haesen D; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), 3000 Leuven, Belgium; Leuven Brain Institute, PO Box 901, 3000 Leuven, Belgium., van Belle S; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), 3000 Leuven, Belgium; Leuven Brain Institute, PO Box 901, 3000 Leuven, Belgium., de Munnik SA; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands., Bongers EMHF; Department of Human Genetics, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands., Schieving JH; Department of Neurology, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands., Marcelis C; Department of Human Genetics, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands., Amiel J; Laboratory of Embryology and Genetics of Human Malformations, Paris Descartes University, Sorbonne Paris Cité University and INSERM U1163, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Rio M; Service de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Mclaughlin H; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Ladda R; Penn State Hershey Children's Hospital, Hershey, PA 17033, USA., Sell S; Penn State Hershey Children's Hospital, Hershey, PA 17033, USA., Kriek M; Department of Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, the Netherlands., Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, the Netherlands., Terhal PA; Department of Genetics, University Medical Center Utrecht, PO Box 85500, 3508 GA Utrecht, the Netherlands., van Gassen KL; Department of Genetics, University Medical Center Utrecht, PO Box 85500, 3508 GA Utrecht, the Netherlands., Verbeek N; Department of Genetics, University Medical Center Utrecht, PO Box 85500, 3508 GA Utrecht, the Netherlands., Henry S; Biochemical Genetics Clinic, University of Wisconsin School of Medicine and Public Health, University of Wisconsin, Madison, WI 53705, USA., Scott Schwoerer J; Biochemical Genetics Clinic, University of Wisconsin School of Medicine and Public Health, University of Wisconsin, Madison, WI 53705, USA., Malik S; Comprehensive Epilepsy Program, Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, TX 76104, USA., Revencu N; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium., Ferreira CR; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Macnamara E; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Braakman HMH; Department of Neurology, Academic Center for Epileptology, Kempenhaeghe & Maastricht UMC+, Sterkelseweg 65, 5591 VE Heeze, the Netherlands., Brimble E; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, 94305, USA., Ruzhnikov MRZ; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, 94305, USA; Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA 94305, USA., Wagner M; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Munich, Germany; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany., Harrer P; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany., Tziperman B; Pediatric Neurology Unit, Sheba Medical Center, 52621 Ramat Gan, Israel., Barel O; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, 52621 Tel Hashomer, Israel; Wohl Institute for Translational Medicine, Sheba Medical Center, 52621 Tel Hashomer, Israel., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands., Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, Paris Descartes University, Sorbonne Paris Cité University and INSERM U1163, Institut Imagine, 75015 Paris, France., Janssens V; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), 3000 Leuven, Belgium; Leuven Brain Institute, PO Box 901, 3000 Leuven, Belgium. Electronic address: veerle.janssens@kuleuven.be., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboudumc, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Jan 03; Vol. 104 (1), pp. 139-156. Date of Electronic Publication: 2018 Dec 27.