Article open access publication

Phenotypes and genotypes in individuals with SMC1A variants

American Journal of Medical Genetics Part A, Wiley, ISSN 1552-4833

Volume 173, 8, 2017

DOI:10.1002/ajmg.a.38279, Dimensions: pub.1085597721, PMID: 28548707,



  1. (1) Prinsenstichting Institute Purmerend the Netherlands
  2. (2) University of Amsterdam, grid.7177.6
  3. (3) Lentis Psychiatric Institute Autism Team Northern‐Netherlands, Jonx Department of Youth Mental Health and Autism Groningen the Netherlands
  4. (4) Paracelsus Medical University Salzburg Division of Clinical Genetics, Department of Pediatrics Salzburg Austria
  5. (5) Rigshospitalet Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital Glostrup Denmark
  6. (6) Erasmus University Medical Center, grid.5645.2
  7. (7) ASST Papa Giovanni XXIII Department of Pediatrics Bergamo Italy
  8. (8) University of Buenos Aires, grid.7345.5
  9. (9) Children's Hospital of Philadelphia Division of Genetics Philadelphia Pennsylvania
  10. (10) Institut Imagine, and Hôpital Universitaire Necker‐Enfants Malades Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes‐Sorbonne Paris Cité University, AP‐HP Paris France
  11. (11) University of Pennsylvania Department of Pediatrics, Perelman School of Medicine Philadelphia Pennsylvania
  12. (12) VU University Medical Center, grid.16872.3a
  13. (13) Western General Hospital MRC Human Genetics Unit, IGMM Edinburgh United Kingdom
  14. (14) University of Milan, grid.4708.b
  15. (15) Universitätsklinikum Schleswig‐Holstein Institut für Humangenetik Lübeck Lübeck Germany
  16. (16) Manipal University, grid.411639.8
  17. (17) Leiden University Medical Center, grid.10419.3d
  18. (18) University Medical Center Utrecht, grid.7692.a
  19. (19) Charité, grid.6363.0
  20. (20) Radboud University Medical Center Department of Human Genetics, Donders Centre for Neuroscience Nijmegen the Netherlands
  21. (21) University of Lübeck, grid.4562.5
  22. (22) University Medical Center Hamburg-Eppendorf, grid.13648.38
  23. (23) University College London, grid.83440.3b
  24. (24) University of Birmingham Cerebra Centre for Neurodevelopmental Disorders, School of Psychology Birmingham United Kingdom
  25. (25) University of Zaragoza, grid.11205.37
  26. (26) Universidad de Zaragoza Unidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario “Lozano Blesa” CIBERER‐GCV02 and Departamento de Pediatría, Facultad de Medicina Zaragoza Spain
  27. (27) University of Bern Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital Bern Switzerland
  28. (28) Istituto Auxologico Italiano, grid.418224.9
  29. (29) ASST Lariana UOC Pediatria Como Italy
  30. (30) Severinus Institute Veldhoven the Netherlands
  31. (31) Seattle Children's Hospital Division of Craniofacial Medicine Seattle Washington
  32. (32) Medical University of Gdansk Departments of Pediatrics, Hematology, Oncology and Department of General Nursery Gdansk Poland


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2017: Unused

Research area: Medicine

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Times Cited: 23

Field Citation Ratio (FCR): 4.87

Relative Citation ratio (RCR): 2.24

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Green, Accepted