부산대학교 도서관

Genetics in Medicine

Schoonvelde SAC; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus MC, Rotterdam, The Netherlands s.schoonvelde@erasmusmc.nl.; Zwetsloot PP; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus MC, Rotterdam, The Netherlands.; Netherlands Heart Institute, Utrecht, The Netherlands.; Hirsch A; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus MC, Rotterdam, The Netherlands.; Department of Radiology and Nuclear Medicine, Erasmus MC, Rotterdam, Netherlands.; Schinkel AFL; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus MC, Rotterdam, The Netherlands.; Knackstedt C; Department of Cardiology and Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre, Maastricht, The Netherlands.; Germans T; Department of Cardiology, Noordwest Ziekenhuisgroep, Alkmaar, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, University Medical Center Rotterdam, Erasmus, The Netherlands.; Verhagen JMA; Department of Clinical Genetics, University Medical Center Rotterdam, Erasmus, The Netherlands.; de Boer RA; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus MC, Rotterdam, The Netherlands.; Michels M; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus MC, Rotterdam, The Netherlands.

Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 9602087 Publication Model: Electronic Cited Medium: Internet ISSN: 1468-201X (Electronic) Linking ISSN: 13556037 NLM ISO Abbreviation: Heart Subsets: MEDLINE

Deb W; Besnard T; Desprez F; Cogné B; Do Souto Ferreira L; Vignard V; Marouillat S; Januel L; Gorokhova S; Busa T; Morel V; Dauriat B; Desportes V; Slavotinek AM; An Y; Lee H; Hary J; Kannu P; Athey TB; van de Laar IMBH; van Slegtenhorst MA; Dickson P; Muir AM; Buchert R; Haack TB; Imort D; Sousa SB; Xavier B; Almeida PM; Rogac M; Peterlin B; Kaspar S; Netzer C; Zempel H; Towne MC; Ladda RL; Sell SS; Gawlinski P; Song X; Wiszniewski W; Calame DG; Posey JE; Ebstein F; Lupski JR; Isidor B; Bézieau S; Laumonnier F; Küry S

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

van der Tol L; Department of Pediatrics, Erasmus MC Sophia Children's Hospital, University Medical Center, Rotterdam, the Netherlands. Electronic address: l.van.der.tol@antoniusziekenhuis.nl.; de Jong M; Department of Pediatrics, Albert Schweitzer Hospital, Dordrecht, the Netherlands. Electronic address: m.dejong@asz.nl.; Alders M; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: m.alders@amsterdamumc.nl.; Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands. Electronic address: m.wilke@erasmusmc.nl.; van der Schoot V; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands. Electronic address: v.vanderschoot@erasmusmc.nl.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands. Electronic address: m.vanslegtenhorst@erasmusmc.nl.; Goverde A; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands. Electronic address: a.goverde.1@erasmusmc.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

Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.; Aung KP; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Liao VW; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Camperdown, New South Wales, Australia.; Absalom N; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Camperdown, New South Wales, Australia.; School of Science, The MARCS Institute for Brain, Behaviour and Development, University of Western Sydney, Sydney, New South Wales, Australia.; Chua HC; Sydney Pharmacy School, Faculty of Medicine and Health and Charles Perkins Centre, The University of Sydney, Sydney, New South Wales, Australia.; Gan XN; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Mao M; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; McKenzie CE; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Lee HM; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Ortiz S; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.; Spillmann RC; Department of Pediatrics, Division of Medical Genetics, and.; Shashi V; Department of Pediatrics, Division of Medical Genetics, and.; Radtke RA; Department of Neurology, Duke University School of Medicine, Durham, North Carolina, USA.; Mirzaa GM; Department of Laboratory Medicine and Pathology and.; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.; Weisner PA; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Flores Daboub J; Department of Pediatrics, Genetics Division, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Hagedorn C; Department of Pediatrics, Genetics Division, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Bayrak-Toydemir P; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA.; DeMille D; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA.; Zhao J; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA.; Bajaj N; Department of Neuropediatrics, Christian Children's Hospital Osnabrück, Osnabrück, Germany.; Capri Y; Department of Genetics, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris Nord, University of Paris, Paris, France.; Keren B; Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France.; Schmidts M; Center for Pediatrics and Adolescent Medicine, Freiburg University Hospital, Faculty of Medicine, and.; CIBSS - Centre for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany.; van de Laar IM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands.; Ploski R; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.; Bogotko M; Professor Jan Bogdanowicz Children's Hospital, Warsaw, Poland.; Bourque DK; Division of Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.; Alkhunaizi E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Chad L; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Quercia N; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Elloumi H; GeneDx, Gaithersburg, Maryland, USA.; Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics, The University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.; Bisarad P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics, The University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.; Galaz-Montoya CI; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics, The University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.; Genetics, Graduate Interdisciplinary Program, The University of Arizona, Tucson, Arizona, USA.; Rusu V; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Angione K; Department of Child Neurology, Children's Hospital Colorado, Aurora, Colorado, USA.; School of Medicine, University of Colorado Denver, Aurora, Colorado, USA.; Win JC; Department of Neurology, Riley Children's Health, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Espinosa-Jovel C; Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia.; Zacher P; Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Berkovic SF; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Scheffer IE; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Chebib M; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Camperdown, New South Wales, Australia.; Rubboli G; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.; Reid CA; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.; Ahring PK; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Camperdown, New South Wales, Australia.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Schoonvelde SAC; Department of Cardiology, Thorax Center, Cardiovascular Institute, Erasmus MC, Rotterdam, the Netherlands. Electronic address: s.schoonvelde@erasmusmc.nl.; Nollet EE; Department of Physiology, Amsterdam UMC, Amsterdam, the Netherlands; Department of Experimental Cardiology, Amsterdam UMC, Amsterdam, the Netherlands; Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.; Zwetsloot PP; Department of Cardiology, Thorax Center, Cardiovascular Institute, Erasmus MC, Rotterdam, the Netherlands; Netherlands Heart Institute, Utrecht, the Netherlands.; Knackstedt C; Department of Cardiology and Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Center+, Maastricht, the Netherlands.; Germans T; Department of Cardiology, Northwest Clinics, Alkmaar, the Netherlands.; Hirsch A; Department of Cardiology, Thorax Center, Cardiovascular Institute, Erasmus MC, Rotterdam, the Netherlands; Department of Radiology and Nuclear Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.; Schinkel AFL; Department of Cardiology, Thorax Center, Cardiovascular Institute, Erasmus MC, Rotterdam, the Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Verhagen JMA; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; de Boer RA; Department of Cardiology, Thorax Center, Cardiovascular Institute, Erasmus MC, Rotterdam, the Netherlands.; van der Velden J; Department of Physiology, Amsterdam UMC, Amsterdam, the Netherlands; Department of Experimental Cardiology, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Heart failure & Arrhythmias, Amsterdam, the Netherlands.; Michels M; Department of Cardiology, Thorax Center, Cardiovascular Institute, Erasmus MC, Rotterdam, the Netherlands.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int J Cardiol Subsets: MEDLINE

Smits DJ; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. d.smits@erasmusmc.nl.; Debuy C; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Ferraro F; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Rots D; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Verhoeven VJM; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Donker Kaat L; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kant SG; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Demirdas S; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Zeidler S; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Dooren MF; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Donze SH; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Sleutels F; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Drost M; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Minkelen R; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Goverde A; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Hol JA; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van de Laar IMBH; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Ierland Y; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kievit A; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van der Schoot V; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Wessels MW; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kleefstra T; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Center for Neuropsychiatry, Vincent van Gogh, Venray, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Bruggenwirth HT; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Joosten M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Thurik F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Mijalkovic J; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Polak M; Department of Psychology, Education & Child Studies (DPECS), Erasmus University Rotterdam, Rotterdam, The Netherlands.; Kromosoeto J; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Somers-Bolman GM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van den Born M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Drost M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Galjaard RJH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Galjaard S; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Knapen MFCM; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; van Minkelen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van der Schoot V; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Sleutels F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Weerts MJA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Go ATJI; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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

Cheng, H; Dharmadhikari, AV; Varland, S; Ma, N; Domingo, D; Kleyner, R; Rope, AF; Yoon, M; Stray-Pedersen, A; Posey, JE; Crews, SR; Eldomery, MK; Akdemir, ZC; Lewis, AM; Sutton, VR; Rosenfeld, JA; Conboy, E; Agre, K; Xia, F; Walkiewicz, M; Longoni, M; High, FA; van Slegtenhorst, MA; Mancini, GMS; Finnila, CR; van Haeringen, A; den Hollander, N; Ruivenkamp, C; Naidu, S; Mahida, S; Palmer, EE; Murray, L; Lim, D; Jayakar, P; Parker, MJ; Giusto, S; Stracuzzi, E; Romano, C; Beighley, JS; Bernier, RA; Küry, S; Nizon, M; Corbett, MA; Shaw, M; Gardner, A; Barnett, C; Armstrong, R; Kassahn, KS; Van Dijck, A; Vandeweyer, G; Kleefstra, T; Schieving, J; Jongmans, MJ; de Vries, BBA; Pfundt, R; Kerr, B; Rojas, SK; Boycott, KM; Person, R; Willaert, R; Eichler, EE; Kooy, RF; Yang, Y; Wu, JC; Lupski, JR; Arnesen, T; Cooper, GM; Chung, WK; Gecz, J; Stessman, HAF; Meng, L; Lyon, GJ; Palmer, Elizabeth

American Journal of Human Genetics, 102, 5, pp. 985-994
The American journal of human genetics
Kerr, B & et, A 2018, 'Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2018.03.004

Zheng SL; National Heart Lung Institute, Imperial College London, London, UK.; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, UK.; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Jurgens SJ; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; McGurk KA; National Heart Lung Institute, Imperial College London, London, UK.; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, UK.; Xu X; National Heart Lung Institute, Imperial College London, London, UK.; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, UK.; Grace C; Radcliffe Department of Medicine, University of Oxford, Division of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Theotokis PI; National Heart Lung Institute, Imperial College London, London, UK.; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, UK.; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Buchan RJ; National Heart Lung Institute, Imperial College London, London, UK.; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, UK.; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Francis C; National Heart Lung Institute, Imperial College London, London, UK.; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; de Marvao A; National Heart Lung Institute, Imperial College London, London, UK.; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, UK.; Department of Women and Children's Health, King's College London, London, UK.; School of Cardiovascular and Metabolic Medicine and Sciences, King's College London, London, UK.; Curran L; National Heart Lung Institute, Imperial College London, London, UK.; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, UK.; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Bai W; Biomedical Image Analysis Group, Department of Computing, Imperial College London, London, UK.; Department of Brain Sciences, Imperial College London, London, UK.; Pua CJ; National Heart Research Institute Singapore, National Heart Center, Singapore, Singapore.; Tang HC; Department of Cardiology, National Heart Centre, Singapore, Singapore.; Jorda P; Cardiovascular Genetics Centre, Montreal Heart Institute, Montreal, Quebec, Canada.; Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Verhagen JMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Harper AR; Radcliffe Department of Medicine, University of Oxford, Division of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Ormondroyd E; Radcliffe Department of Medicine, University of Oxford, Division of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Chin CWL; Department of Cardiology, National Heart Centre, Singapore, Singapore.; Pantazis A; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Baksi J; National Heart Lung Institute, Imperial College London, London, UK.; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Halliday BP; National Heart Lung Institute, Imperial College London, London, UK.; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Matthews P; Department of Brain Sciences, Imperial College London, London, UK.; Pinto YM; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Clinical Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Paris, France.; Walsh R; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.; Amin AS; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Clinical Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Paris, France.; Wilde AAM; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Clinical Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Paris, France.; Cook SA; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, UK.; Department of Cardiology, National Heart Centre, Singapore, Singapore.; Duke-National University of Singapore Medical School, Singapore, Singapore.; Prasad SK; National Heart Lung Institute, Imperial College London, London, UK.; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Barton PJR; National Heart Lung Institute, Imperial College London, London, UK.; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, UK.; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; O'Regan DP; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, UK.; Lumbers RT; Institute of Health Informatics, University College London, London, UK.; Health Data Research UK London, University College London, London, UK.; British Heart Foundation Research Accelerator, University College London, London, UK.; Goel A; Radcliffe Department of Medicine, University of Oxford, Division of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Tadros R; Cardiovascular Genetics Centre, Montreal Heart Institute, Montreal, Quebec, Canada.; Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada.; Michels M; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Paris, France.; Department of Cardiology, Thorax Center, Cardiovascular Institute, Erasmus University Medical Center, Rotterdam, the Netherlands.; Watkins H; Radcliffe Department of Medicine, University of Oxford, Division of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Bezzina CR; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, University of Amsterdam, Amsterdam UMC, Amsterdam, the Netherlands.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Paris, France.; Ware JS; National Heart Lung Institute, Imperial College London, London, UK. j.ware@imperial.ac.uk.; Medical Research Council Laboratory of Medical Sciences, Imperial College London, London, UK. j.ware@imperial.ac.uk.; Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK. j.ware@imperial.ac.uk.; Imperial College Healthcare NHS Trust, London, UK. j.ware@imperial.ac.uk.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. j.ware@imperial.ac.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

van Waning, JI; Caliskan, K; Hoedemaekers, YM; van Spaendonck-Zwarts, KY; Baas, AF; Boekholdt, SM; van Melle, JP; Teske, AJ; Asselbergs, FW; Backx, APCM; du Marchie Sarvaas, GJ; Dalinghaus, M; Breur, JMPJ; Linschoten, MPM; Verlooij, LA; Kardys, I; Dooijes, D; Deprez, RHL; IJpma, AS; van den Berg, MP; Hofstra, RMW; van Slegtenhorst, MA; Jongbloed, JDH; Majoor-Krakauer, D

Journal of the American College of Cardiology. 71:711-722

Tukker M; ErasmusMC, Cardiovascular Institute, Thoraxcenter, Department of Cardiology, Rotterdam, the Netherlands.; Te Rijdt WP; Department of Clinical Genetics, Rotterdam, the Netherlands.; Amin AS; Department of Clinical Cardiology, Heart Center, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Morris-Rosendahl DJ; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Foundation Trust, London, UK; Genomic Medicine, National Heart and Lung Institute, Imperial College London, London, UK.; Hirsch A; ErasmusMC, Cardiovascular Institute, Thoraxcenter, Department of Cardiology, Rotterdam, the Netherlands; Department of Radiology and Nuclear Medicine, Rotterdam, the Netherlands.; Ben-Haim Y; Department of Cardiology, St. George's University Hospitals NHS Foundation Trust, London, UK.; Houweling AC; Department of Human Genetics, Amsterdam University Medical Centre, Amsterdam, the Netherlands.; Varnava A; Hammersmith Hospital, Imperial NHS Healthcare Trust, London, UK.; Behr ER; Department of Cardiology, St. George's University Hospitals NHS Foundation Trust, London, UK.; Edwards M; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Foundation Trust, London, UK.; Vanmaele A; ErasmusMC, Cardiovascular Institute, Thoraxcenter, Department of Cardiology, Rotterdam, the Netherlands.; Hajdarpasic A; Department of Medical Genetics, Sarajevo Medical School, University Sarajevo School of Science and Technology, Sarajevo, Bosnia and Herzegovina.; von der Thusen J; Department of Pathology, Erasmus MC University Medical Centre, Rotterdam, the Netherlands.; Michels M; ErasmusMC, Cardiovascular Institute, Thoraxcenter, Department of Cardiology, Rotterdam, the Netherlands.; de Boer RA; ErasmusMC, Cardiovascular Institute, Thoraxcenter, Department of Cardiology, Rotterdam, the Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Rotterdam, the Netherlands.; Caliskan K; ErasmusMC, Cardiovascular Institute, Thoraxcenter, Department of Cardiology, Rotterdam, the Netherlands. Electronic address: k.caliskan@erasmusmc.nl.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int J Cardiol Subsets: MEDLINE

Schoonvelde SAC; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus Medical Center, Rotterdam, the Netherlands. Electronic address: s.schoonvelde@erasmusmc.nl.; Alexandridis GM; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus Medical Center, Rotterdam, the Netherlands.; Price LB; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus Medical Center, Rotterdam, the Netherlands.; Schinkel AFL; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus Medical Center, Rotterdam, the Netherlands.; Hirsch A; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus Medical Center, Rotterdam, the Netherlands; Department of Radiology and Nuclear Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.; Zwetsloot PP; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus Medical Center, Rotterdam, the Netherlands; Netherlands Heart Institute, Utrecht, the Netherlands.; Kammeraad JAE; Department of Pediatric Cardiology, Erasmus Medical Center - Sophia Children's hospital, Cardiovascular Institute, Rotterdam, the Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Verhagen JMA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; de Boer RA; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus Medical Center, Rotterdam, the Netherlands.; Michels M; Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus Medical Center, Rotterdam, the Netherlands.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int J Cardiol Subsets: MEDLINE; In Process

Jansen, S; Geuer, S; Pfundt, R; Brough, R; Ghongane, P; Herkert, JC; Marco, EJ; Willemsen, MH; Kleefstra, T; Hannibal, M; Shieh, JT; Lynch, SA; Flinter, F; FitzPatrick, DR; Gardham, A; Bernhard, B; Ragge, N; Newbury-Ecob, R; Bernier, R; Kvarnung, M; Magnusson, EAH; Wessels, MW; van Slegtenhorst, MA; Monaghan, KG; de Vries, P; Veltman, JA; Deciphering Developmental Disorders Study; Lord, CJ; Vissers, LELM; de Vries, BBA

American Journal of Human Genetics, 100, 4, pp. 650-658
Jansen, S, Geuer, S, Pfundt, R, Brough, R, Ghongane, P, Herkert, J C, Marco, E J, Willemsen, M H, Kleefstra, T, Hannibal, M, Shieh, J T, Lynch, S A, Flinter, F, FitzPatrick, D R, Gardham, A, Bernhard, B, Ragge, N, Newbury-Ecob, R, Bernier, R, Kvarnung, M, Magnusson, E A H, Wessels, M W, van Slegtenhorst, M A, Monaghan, K G, de Vries, P, Veltman, J A, Lord, C J & Vissers, L E L M & de Vries, B B A 2017, ' De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome ', American Journal of Human Genetics, vol. 100, no. 4, pp. 650-658 . https://doi.org/10.1016/j.ajhg.2017.02.005

Bos TA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Piers SRD; Department of Cardiology, Leiden University Medical Centre, Leiden, The Netherlands.; Wessels MW; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands.; Houweling AC; Department of Human Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; Bökenkamp R; Department of Paediatric Cardiology, Leiden University Medical Centre, Leiden, The Netherlands.; Bootsma M; Department of Cardiology, Leiden University Medical Centre, Leiden, The Netherlands.; Bosman LP; Netherlands ACM Registry, Utrecht, The Netherlands.; Evertz R; Department of Cardiology, Radboud University Medical Centre, Nijmegen, The Netherlands.; Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; Hoedemaekers YM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Knijnenburg J; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Lekanne Deprez R; Department of Human Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; van Mil AM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Te Riele ASJM; Netherlands ACM Registry, Utrecht, The Netherlands.; Department of Heart and Lungs, Division of Cardiology, University Medical Centre Utrecht, Utrecht, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands.; Wilde AAM; Heart Centre, Department of Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; Yap SC; Department of Cardiology, Erasmus University Medical Centre, Rotterdam, The Netherlands.; Dooijes D; Department of Clinical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Koopmann TT; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; van Tintelen JP; Netherlands ACM Registry, Utrecht, The Netherlands.; Department of Clinical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. d.q.c.m.barge-schaapveld@lumc.nl.

Publisher: Bohn Stafleu van Loghum Country of Publication: Netherlands NLM ID: 101095458 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1568-5888 (Print) Linking ISSN: 15685888 NLM ISO Abbreviation: Neth Heart J Subsets: PubMed not MEDLINE

Wiethoff I; Department of Health Services Research, Care and Public Health Research Institute (CAPHRI), Maastricht University, Maastricht, The Netherlands.; Schoonvelde SAC; Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thorax Center, Rotterdam, The Netherlands s.schoonvelde@erasmusmc.nl.; de Boer RA; Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thorax Center, Rotterdam, The Netherlands.; Evers SMAA; Department of Health Services Research, Care and Public Health Research Institute (CAPHRI), Maastricht University, Maastricht, The Netherlands.; Trimbos Institute, Netherlands Institute of Mental Health and Addiction, Centre for Economic Evaluation, Utrecht, The Netherlands.; Germans T; Department of Cardiology, Northwest Clinics, Alkmaar, The Netherlands.; Hirsch A; Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thorax Center, Rotterdam, The Netherlands.; Department of Radiology & Nuclear Medicine, Erasmus MC, Rotterdam, The Netherlands.; Knackstedt C; Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre, Maastricht, The Netherlands.; Te Rijdt WP; Department of Clinical Genetics, Erasmus MC, Cardiovascular Institute, Rotterdam, The Netherlands.; Netherlands Heart Institute, Utrecht, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC, Cardiovascular Institute, Rotterdam, The Netherlands.; Schinkel AFL; Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thorax Center, Rotterdam, The Netherlands.; Zwetsloot PP; Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thorax Center, Rotterdam, The Netherlands.; Netherlands Heart Institute, Utrecht, The Netherlands.; Michels M; Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thorax Center, Rotterdam, The Netherlands.; Hiligsmann M; Department of Health Services Research, Care and Public Health Research Institute (CAPHRI), Maastricht University, Maastricht, The Netherlands.

Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 101631219 Publication Model: Electronic Cited Medium: Print ISSN: 2053-3624 (Print) Linking ISSN: 20533624 NLM ISO Abbreviation: Open Heart Subsets: MEDLINE

Schoonvelde SAC; Department of Cardiology, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands. s.schoonvelde@erasmusmc.nl.; Hirsch A; Department of Cardiology, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Department of Radiology and Nuclear Medicine, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Yap SC; Department of Cardiology, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Verhagen JMA; Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Segers D; Department of Cardiology, Amphia Hospital, Breda, The Netherlands.; van Loon JE; Department of Cardiology, Haga Hospital, The Hague, The Netherlands.; Michels M; Department of Cardiology, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands.

Publisher: Bohn Stafleu van Loghum Country of Publication: Netherlands NLM ID: 101095458 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1568-5888 (Print) Linking ISSN: 15685888 NLM ISO Abbreviation: Neth Heart J Subsets: PubMed not MEDLINE

Pavinato L; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Delle Vedove A; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute for Genetics, University of Cologne, 50674 Cologne, Germany.; Carli D; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.; Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, 10126 Turin, Italy.; Ferrero M; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Experimental Zooprophylactic Institute of Piedmont, Liguria e Valle d'Aosta, 10154 Turin, Italy.; Carestiato S; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Howe JL; The Centre for Applied Genomics, Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Agolini E; Laboratory of Medical Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Coviello DA; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; van de Laar I; Clinical Genetics, Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 CN, Rotterdam, The Netherlands.; Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.; Di Gregorio E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.; Fabbiani A; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Croci S; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Mencarelli MA; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Bruno LP; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Renieri A; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Veltra D; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Faivre L; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France.; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.; Mazel B; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France.; Safraou H; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Denommé-Pichon AS; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; van Slegtenhorst MA; Clinical Genetics, Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 CN, Rotterdam, The Netherlands.; Giesbertz N; Department of Genetics, University Medical Centre Utrecht, 3584 CX, Utrecht, The Netherlands.; van Jaarsveld RH; Department of Genetics, University Medical Centre Utrecht, 3584 CX, Utrecht, The Netherlands.; Childers A; Greenwood Genetic Center, Greenville, SC 29646, USA.; Rogers RC; Greenwood Genetic Center, Greenville, SC 29646, USA.; Novelli A; Laboratory of Medical Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Scherer SW; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada.; Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, 10149 Orbassano, TO, Italy.; Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute for Genetics, University of Cologne, 50674 Cologne, Germany.; Brusco A; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Jansen, M; Baas, AF; van Spaendonck-Zwarts, KY; Ummels, AS; van den Wijngaard, A; Jongbloed, JDH; van Slegtenhorst, MA; Deprez, RHL; Wessels, MW; Michels, M; Houweling, AC; Hoorntje, ET; Helderman-van den Enden, PJTM; Barge-Schaapveld, DQCM; van Tintelen, JP; van den Berg, MP; Wilde, AAM; van Amstel, HKP; Hennekam, EAM; Asselbergs, FW; Sijbrands, EJG; Dooijes, D

Circulation: Genomic and Precision Medicine. 12

Schoonvelde SAC; Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thorax Center, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Wiethoff I; Department of Health Services Research, Care and Public Health Research Institute (CAPHRI), Maastricht University, 6229 ER, Maastricht, The Netherlands.; Zwetsloot PP; Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thorax Center, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Netherlands Heart Institute, 3511 EP, Utrecht, The Netherlands.; Hirsch A; Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thorax Center, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Department of Radiology and Nuclear Medicine, Erasmus MC, 3015 GD, Rotterdam, The Netherlands.; Knackstedt C; Department of Cardiology and Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Center+, 6229 HX, Maastricht, The Netherlands.; Germans T; Department of Cardiology, Northwest Clinics, 1815 JD, Alkmaar, the Netherlands.; Sikking M; Department of Cardiology and Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Center+, 6229 HX, Maastricht, The Netherlands.; Schinkel AFL; Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thorax Center, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC, 3015 GD, Rotterdam, The Netherlands.; Verhagen JMA; Department of Clinical Genetics, Erasmus MC, 3015 GD, Rotterdam, The Netherlands.; de Boer RA; Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thorax Center, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Evers SMAA; Department of Health Services Research, Care and Public Health Research Institute (CAPHRI), Maastricht University, 6229 ER, Maastricht, The Netherlands.; Trimbos Institute, Netherlands Institute of Mental Health and Addiction, Centre for Economic Evaluation, 3521 VS, Utrecht, The Netherlands.; Hiligsmann M; Department of Health Services Research, Care and Public Health Research Institute (CAPHRI), Maastricht University, 6229 ER, Maastricht, The Netherlands.; Michels M; Department of Cardiology, Erasmus MC, Cardiovascular Institute, Thorax Center, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101677796 Publication Model: Print Cited Medium: Internet ISSN: 2058-1742 (Electronic) Linking ISSN: 20581742 NLM ISO Abbreviation: Eur Heart J Qual Care Clin Outcomes Subsets: MEDLINE