Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome-Reference-Cited by-同舟云学术

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Published:2020-10-24 Issue:1 Volume:185 Page:119-133
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Dyment David A.¹²^ORCID,O'Donnell‐Luria Anne³⁴⁵^ORCID,Agrawal Pankaj B.⁴⁵,Coban Akdemir Zeynep⁶,Aleck Kyrieckos A.⁷,Antaki Danny⁸⁹,Al Sharhan Hind¹⁰¹¹,Au Ping‐Yee B.¹²,Aydin Hatip¹³,Beggs Alan H.⁴⁵,Bilguvar Kaya¹⁴¹⁵,Boerwinkle Eric¹⁶,Brand Harrison³¹⁷¹⁸,Brownstein Catherine A.⁴⁵,Buyske Steve¹⁹,Chodirker Bernard²⁰,Choi Jungmin¹⁴²¹,Chudley Albert E.²⁰,Clericuzio Carol L.²²,Cox Gerald F.⁴⁵,Curry Cynthia²³²⁴,Boer Elke²⁵,Vries Bert B. A.²⁵²⁶^ORCID,Dunn Kathryn⁵,Dutmer Cullen M.²⁷,England Eleina M.³,Fahrner Jill A.¹⁰,Geckinli Bilgen B.²⁸^ORCID,Genetti Casie A.⁴⁵,Gezdirici Alper²⁹,Gibson William T.³⁰,Gleeson Joseph G.⁸⁹,Greenberg Cheryl R.²⁰,Hall April³¹,Hamosh Ada¹⁰,Hartley Taila²,Jhangiani Shalini N.⁶,Karaca Ender⁶,Kernohan Kristin²,Lauzon Julie L.¹²,Lewis M. E. Suzanne³⁰,Lowry R. Brian¹²,López‐Giráldez Francesc¹⁴¹⁵,Matise Tara C.³²,McEvoy‐Venneri Jennifer⁸⁹,McInnes Brenda¹²,Mhanni Aziz²⁰,Garcia Minaur Sixto³³,Moilanen Jukka³⁴,Nguyen An⁸⁹,Nowaczyk Malgorzata J. M.³⁵,Posey Jennifer E.⁶^ORCID,Õunap Katrin³⁶³⁷,Pehlivan Davut⁶³⁸³⁹,Pajusalu Sander¹⁴³⁶³⁷^ORCID,Penney Lynette S.⁴⁰,Poterba Timothy³⁴¹,Prontera Paolo⁴²,Doriqui Maria Juliana Rodovalho⁴³,Sawyer Sarah L.¹²,Sobreira Nara¹⁰,Stanley Valentina⁸⁹,Torun Deniz⁴⁴,Wargowski David⁴⁵,Witmer P. Dane¹⁰,Wong Isaac³¹⁷¹⁸,Xing Jinchuan³²,Zaki Maha S.⁴⁶^ORCID,Zhang Yeting³²,Boycott Kym M.¹²^ORCID,Bamshad Michael J.⁴⁷⁴⁸⁴⁹,Nickerson Deborah A.⁴⁹⁴⁸,Blue Elizabeth E.⁵⁰,Innes A. Micheil¹²^ORCID, ,

Affiliation:

1. Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada

2. Children's Hospital of Eastern Ontario Research Institute Ottawa Ontario Canada

3. Broad Institute of MIT and Harvard Broad Center for Mendelian Genomics Cambridge Massachusetts USA

4. Division of Genetics and Genomics Boston Children's Hospital and Harvard Medical School Boston Massachusetts USA

5. The Manton Center for Orphan Disease Research Boston Children's Hospital Boston Massachusetts USA

6. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

7. Department of Genetics and Metabolism Phoenix Children's Medical Group Phoenix Arizona USA

8. Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute University of California San Diego California USA

9. Rady Children's Institute for Genomic Medicine Rady Children's Hospital San Diego California USA

10. McKusick‐Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA

11. Department of Pediatrics, Faculty of Medicine Kuwait University Kuwait City Kuwait

12. Department of Medical Genetics and Alberta Children's Hospital Research Institute University of Calgary Calgary Alberta Canada

13. Centre of Genetics Diagnosis Zeynep Kamil Maternity and Children's Training and Research Hospital Istanbul Turkey

14. Department of Genetics Yale School of Medicine New Haven Connecticut USA

15. Yale Center for Genome Analysis Yale School of Medicine New Haven Connecticut USA

16. Human Genome Sequencing Center Baylor College of Medicine Waco Texas USA

17. Center for Genomic Medicine Massachusetts General Hospital Boston Massachusetts USA

18. Department of Neurology Massachusetts General Hospital Boston Massachusetts USA

19. Department of Statistics and Biostatistics Rutgers University Piscataway New Jersey USA

20. Department of Biochemistry and Medical Genetics University of Manitoba Winnipeg Manitoba Canada

21. Department of Biomedical Sciences Korea University College of Medicine Seoul South Korea

22. Department of Pediatrics University of New Mexico Health Sciences Center Albuquerque New Mexico USA

23. University of California San Francisco California USA

24. Genetic Medicine University Pediatric Specialists Fresno California USA

25. Department of Human Genetics Raboud University Medical Centre Nijmegen Netherlands

26. Donders Institute for Brain, Cognition and Behaviour Raboud University Medical Centre Nijmegen Netherlands

27. Children's Hospital Colorado and University of Colorado School of Medicine Aurora Colorado USA

28. Department of Medical Genetics, School of Medicine Marmara University Istanbul Turkey

29. Department of Medical Genetics Kanuni Sultan Suleyman Training and Research Hospital Istanbul Turkey

30. Department of Medical Genetics and British Columbia Children's Hospital Research Institute University of British Columbia Vancouver British Columbia Canada

31. Waisman Center Clinical Genetics University of Wisconsin Madison Wisconsin USA

32. Department of Genetics, Human Genetics Institute of New Jersey Rutgers University Piscataway New Jersey USA

33. Sección de Genética Clínica INGEMM (Instituto de Genética Médica y Molecular) Madrid Spain

34. Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit University of Oulu Oulu Finland

35. Department of Pathology and Molecular Medicine McMaster University Hamilton Ontario Canada

36. United Laboratories, Department of Clinical Genetics Tartu University Hospital Tartu Estonia

37. Institute of Clinical Medicine, Department of Clinical Genetics Tartu University Hospital Tartu Estonia

38. Texas Children's Hospital Houston Texas USA

39. Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine Houston Texas USA

40. Department of Pediatrics, IWK Health Centre Dalhousie University Halifax Nova Scotia Canada

41. Analytical and Translational Genetics Unit Massachusetts General Hospital Boston Massachusetts USA

42. Medical Genetics Unit Hospital Santa Maria della Misericordia and University of Perugia Perugia Italy

43. Complexo Hospitalar Materno Infantil do MA – Matern, Benedito Leite e Hospital Infantil Juvencio Mattos Sao Luis Brazil

44. Department of Medical Genetics Gulhane Military Medical Academy Ankara Turkey

45. Division of Genetics, Department of Pediatrics University of Wisconsin School of Medicine and Public Health Madison Wisconsin USA

46. Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt

47. Department of Pediatrics University of Washington Seattle Washington USA

48. Department of Genome Sciences University of Washington Seattle Washington USA

49. Brotman‐Baty Institute for Precision Medicine Seattle Washington USA

50. Division of Medical Genetics, Department of Medicine University of Washington Seattle Washington USA

Funder

Canadian Institutes of Health Research

Eesti Teadusagentuur

Genome Alberta

National Heart, Lung, and Blood Institute

National Human Genome Research Institute

National Institute of Child Health and Human Development

National Organization for Rare Disorders

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61926

Reference77 articles.

1. Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

2. Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

3. matchbox: An open-source tool for patient matching via the Matchmaker Exchange

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