Phenotypes and genotypes in individuals with SMC1A variants

Author:

Huisman Sylvia12ORCID,Mulder Paul A.3,Redeker Egbert4,Bader Ingrid5,Bisgaard Anne-Marie6,Brooks Alice7,Cereda Anna8,Cinca Constanza9,Clark Dinah10,Cormier-Daire Valerie11,Deardorff Matthew A.1012,Diderich Karin7,Elting Mariet13,van Essen Anthonie,FitzPatrick David14,Gervasini Cristina15,Gillessen-Kaesbach Gabriele16,Girisha Katta M.17ORCID,Hilhorst-Hofstee Yvonne18,Hopman Saskia19,Horn Denise20,Isrie Mala13,Jansen Sandra21,Jespersgaard Cathrine6,Kaiser Frank J.22,Kaur Maninder10,Kleefstra Tjitske21,Krantz Ian D.1012,Lakeman Phillis4,Landlust Annemiek3,Lessel Davor23ORCID,Michot Caroline11,Moss Jo2425ORCID,Noon Sarah E.10,Oliver Chris24,Parenti Ilaria1622,Pie Juan26,Ramos Feliciano J.27,Rieubland Claudine28,Russo Silvia29,Selicorni Angelo30,Tümer Zeynep6,Vorstenbosch Rieneke31,Wenger Tara L.32,van Balkom Ingrid3,Piening Sigrid3,Wierzba Jolanta33,Hennekam Raoul C.1

Affiliation:

1. Department of Pediatrics, Academic Medical Center; University of Amsterdam; Amsterdam the Netherlands

2. Prinsenstichting Institute; Purmerend the Netherlands

3. Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism; Lentis Psychiatric Institute; Groningen the Netherlands

4. Department of Clinical Genetics, Academic Medical Center; University of Amsterdam; Amsterdam the Netherlands

5. Division of Clinical Genetics, Department of Pediatrics; Paracelsus Medical University Salzburg; Salzburg Austria

6. Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital; Rigshospitalet; Glostrup Denmark

7. Department of Clinical Genetics; Erasmus Medical Center; Rotterdam the Netherlands

8. Department of Pediatrics; ASST Papa Giovanni XXIII; Bergamo Italy

9. División Genetica, Hospital de Clínicas José de San Martín; Universidad de Buenos Aires; Buenos Aires Argentina

10. Division of Genetics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

11. 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; Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades; Paris France

12. Department of Pediatrics, Perelman School of Medicine; University of Pennsylvania; Philadelphia Pennsylvania

13. Department of Clinical Genetics; VU University Medical Center; Amsterdam the Netherlands

14. MRC Human Genetics Unit, IGMM; Western General Hospital; Edinburgh United Kingdom

15. Department of Health Sciences, Medical Genetics; University of Milan; Milan Italy

16. Institut für Humangenetik Lübeck; Universitätsklinikum Schleswig-Holstein; Lübeck Germany

17. Department of Medical Genetics, Kasturba Medical College; Manipal University; Manipal India

18. Department of Clinical Genetics; Leiden University Medical Centre; Leiden the Netherlands

19. Department of Genetics; University Medical Center Utrecht; Utrecht the Netherlands

20. Institut für Medizinische Genetik und Humangenetik; Berlin Germany

21. Department of Human Genetics, Donders Centre for Neuroscience; Radboud University Medical Center; Nijmegen the Netherlands

22. Section for Functional Genetics, Institute of Human Genetics; University of Lübeck; Lübeck Germany

23. Institute of Human Genetics; University Medical Center Hamburg-Eppendorf; Hamburg Germany

24. Cerebra Centre for Neurodevelopmental Disorders, School of Psychology; University of Birmingham; Birmingham United Kingdom

25. Institute of Cognitive Neuroscience; University College London; London United Kingdom

26. Laboratorio de Genética Clínica y Genómica Funcional, Facultad de Medicina; Universidad de Zaragoza; Zaragoza Spain

27. Unidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario “Lozano Blesa” CIBERER-GCV02 and Departamento de Pediatría, Facultad de Medicina; Universidad de Zaragoza; Zaragoza Spain

28. Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital; University of Bern; Bern Switzerland

29. Molecular Biology Laboratory; Istituto Auxologico Italiano; Milan Italy

30. UOC Pediatria; ASST Lariana; Como Italy

31. Severinus Institute; Veldhoven the Netherlands

32. Division of Craniofacial Medicine; Seattle Children's Hospital; Seattle Washington

33. Departments of Pediatrics, Hematology, Oncology and Department of General Nursery; Medical University of Gdansk; Gdansk Poland

Funder

National Institutes of Health

Spanish Ministry of Health − ISCIII

Fondo de Investigación Sanitaria (FIS)

Diputación General de Aragón (Grupo Consolidado B20)

European Social Fund

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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