Cornelia de Lange syndrome in diverse populations

Author:

Dowsett Leah1234ORCID,Porras Antonio R.5,Kruszka Paul6ORCID,Davis Brandon6,Hu Tommy6,Honey Engela7,Badoe Eben8,Thong Meow‐Keong9,Leon Eyby10,Girisha Katta M.11ORCID,Shukla Anju11ORCID,Nayak Shalini S.11,Shotelersuk Vorasuk12,Megarbane Andre13,Phadke Shubha14ORCID,Sirisena Nirmala D.15,Dissanayake Vajira H. W.15,Ferreira Carlos R.10,Kisling Monisha S.10,Tanpaiboon Pranoot10,Uwineza Annette16,Mutesa Leon16,Tekendo‐Ngongang Cedrik17,Wonkam Ambroise17,Fieggen Karen17,Batista Leticia Cassimiro18,Moretti‐Ferreira Danilo18,Stevenson Roger E.19ORCID,Prijoles Eloise J.19,Everman David19ORCID,Clarkson Kate19,Worthington Jessica19,Kimonis Virginia20ORCID,Hisama Fuki21,Crowe Carol22,Wong Paul23,Johnson Kisha23,Clark Robin D.24,Bird Lynne2526,Masser‐Frye Diane26,McDonald Marie27,Willems Patrick28,Roeder Elizabeth29,Saitta Sulgana30,Anyane‐Yeoba Kwame31,Demmer Laurie32,Hamajima Naoki33,Stark Zornitza34,Gillies Greta35,Hudgins Louanne36,Dave Usha37,Shalev Stavit38,Siu Victoria39,Gupta Neerja40,Kabra Madhulika40,Ades Ann241,Dubbs Holly42,Raible Sarah1,Kaur Maninder1,Salzano Emanuela1,Jackson Laird143,Deardorff Matthew12,Kline Antonie44ORCID,Summar Marshall10,Muenke Maximilian6,Linguraru Marius George5,Krantz Ian D.12

Affiliation:

1. Division of Human Genetics and Molecular BiologyThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

2. The Department of PediatricsUniversity of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania

3. Department of PediatricsUniversity of Hawai'i John A. Burns School of Medicine Honolulu Hawai'i

4. Kapi'olani Medical Specialists Honolulu Hawai'i

5. Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System Washington District of Columbia

6. Medical Genetics BranchNational Human Genome Research Institute, The National Institutes of Health Bethesda Maryland

7. Department of GeneticsUniversity of Pretoria Pretoria South Africa

8. School of Medicine and DentistryCollege of Health Sciences, University of Ghana Accra Ghana

9. Department of Paediatrics, Faculty of MedicineUniversity of Malaya Kuala Lumpur Malaysia

10. Division of Genetics and MetabolismChildren's National Health System Washington District of Columbia

11. Department of Medical GeneticsKasturba Medical College, Manipal Academy of Higher Education Manipal India

12. Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of MedicineChulalongkorn University Bangkok Thailand

13. Research InstitutInstitut Jérôme Lejeune Paris France

14. Department of Medical GeneticsSanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow Uttar Pradesh India

15. Human Genetics Unit, Faculty of MedicineUniversity of Colombo Colombo Sri Lanka

16. Center for Human GeneticsUniversity of Rwanda, College of Medicine and Health Sciences, School of Medicine and Pharmacy Kigali Rwanda

17. Division of Human GeneticsUniversity of Cape Town Cape Town South Africa

18. Department of GeneticsInstitute of Biosciences, São Paulo State University—UNESP São Paulo Brazil

19. Greenwood Genetic Center Greenwood South Carolina

20. Department of Pediatrics, Division of Genetics and Genomic MedicineUniversity of California Irvine California

21. Department of Medicine, Division of Medical GeneticsUniversity of Washington Seattle Washington

22. MetroHealth Medical CenterCase Western Reserve University School of Medicine Cleveland Ohio

23. Department of PediatricsRush University Medical College Chicago Illinois

24. Division of Medical Genetics, Department of PediatricsLoma Linda University School of Medicine Loma Linda California

25. Department of PediatricsUniversity of California Sand Diego San Diego California

26. Department of GeneticsRady Children's Hospital San Diego California

27. Division of Medical Genetics, Department of PediatricsDuke Health Durham North Carolina

28. GENDIA, GENetic DIAgnostic Network Antwerp Belgium

29. Department of Pediatrics and Molecular and Human GeneticsBaylor College of Medicine Houston Texas

30. Division of Genetics, Department of Pediatrics, Cedars‐Sinai Medical CenterMedical Genetics Institute Los Angeles California

31. Division of Clinical GeneticsColumbia University Medical College New York New York

32. Department of PediatricsCarolinas Medical Center Charlotte North Carolina

33. Department of PediatricsNagoya City Jouhoku Hospital Nagoya Japan

34. Murdoch Children's Research InstituteVictorian Clinical Genetics Services Melbourne Australia

35. Bruce Lefroy Centre for Genetic Health ResearchMurdoch Children's Research Institute Melbourne Australia

36. Department of Pediatrics, Division of Medical GeneticsStanford University School of Medicine Palo Alto California

37. Haffkine Institute, MILS International India Mumbai India

38. Ha'emek Medical CenterThe Genetic Institute Hafia Israel

39. Medical Genetics ProgramLondon Health Sciences Centre Ontario Canada

40. Division of Genetics, Department of PediatricsAll India Institute of Medical Sciences New Delhi India

41. Division of NeonatologyThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

42. Division of NeurologyThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

43. Department of Obstetrics and GynecologyDrexel University College of Medicine Philadelphia Pennsylvania

44. Department of Pediatrics, Greater Baltimore Medical CenterHarvey Institute for Human Genetics Baltimore Maryland

Funder

National Institute of Child Health and Human Development

National Institute of General Medical Sciences

Thailand Research Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference37 articles.

1. Classical Cornelia de Lange syndrome;Badoe E. V.;Ghana Medical Journal,2006

2. Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

3. A Malay boy with the Cornelia de Lange syndrome: Clinical and molecular findings;Bhuiyan Z. A.;Singapore Medical Journal,2006

4. Cai D. Zhang C. &He X.(2010).Unserpervised feature selection for multi‐cluster data. Proceedings of the 16th ACM SIGKDD international conference on knowledge discovery and data mining: ACM 333–342.

5. Cerrolaza J. J. Porras A. R. Mansoor A. Zhao Q. Summar M. &Linguraru M. G.(2016).Identification of dysmoprhic syndromes using landmakr‐specific local texture descriptors. Biomedical Imaging (ISBI) IEEE 13th International Symposium on: IEEE 1080–1083.

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