Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Author:

Sheppard Sarah E.12ORCID,Campbell Ian M.12ORCID,Harr Margaret H.1,Gold Nina3ORCID,Li Dong1,Bjornsson Hans T.456,Cohen Julie S.78,Fahrner Jill A.49,Fatemi Ali710,Harris Jacqueline R.78,Nowak Catherine11,Stevens Cathy A.12,Grand Katheryn13,Au Margaret13ORCID,Graham John M.13,Sanchez‐Lara Pedro A.13,Campo Miguel Del14,Jones Marilyn C.14,Abdul‐Rahman Omar15ORCID,Alkuraya Fowzan S.16ORCID,Bassetti Jennifer A.17,Bergstrom Katherine17ORCID,Bhoj Elizabeth1218ORCID,Dugan Sarah19,Kaplan Julie D.15,Derar Nada20,Gripp Karen W.21,Hauser Natalie22ORCID,Innes A. Micheil2324,Keena Beth2,Kodra Neslida22,Miller Rebecca22,Nelson Beverly25,Nowaczyk Malgorzata J.26,Rahbeeni Zuhair20,Ben‐Shachar Shay27,Shieh Joseph T.28,Slavotinek Anne28,Sobering Andrew K.29ORCID,Abbott Mary‐Alice30,Allain Dawn C.31,Amlie‐Wolf Louise21ORCID,Au Ping Yee Billie2324,Bedoukian Emma2ORCID,Beek Geoffrey32,Barry James3334,Berg Janet3334,Bernstein Jonathan A.35ORCID,Cytrynbaum Cheryl36,Chung Brian Hon‐Yin37ORCID,Donoghue Sarah2,Dorrani Naghmeh3839,Eaton Alison40ORCID,Flores‐Daboub Josue A.19ORCID,Dubbs Holly41,Felix Carolyn A.42,Fong Chin‐To43,Fung Jasmine Lee Fong37,Gangaram Balram28,Goldstein Amy2,Greenberg Rotem27,Ha Thoa K.28,Hersh Joseph44,Izumi Kosuke2ORCID,Kallish Staci45,Kravets Elijah35,Kwok Pui‐Yan28,Jobling Rebekah K.36,Knight Johnson Amy E.46,Kushner Jessica47,Lee Bo Hoon48ORCID,Levin Brooke49,Lindstrom Kristin50,Manickam Kandamurugu31,Mardach Rebecca14,McCormick Elizabeth2,McLeod D. Ross23,Mentch Frank D.1,Minks Kelly48,Muraresku Colleen2,Nelson Stanley F.3951,Porazzi Patrizia52,Pichurin Pavel N.53,Powell‐Hamilton Nina N.21,Powis Zoe54,Ritter Alyssa2ORCID,Rogers Caleb47,Rohena Luis3334,Ronspies Carey15,Schroeder Audrey43,Stark Zornitza5556,Starr Lois15ORCID,Stoler Joan57,Suwannarat Pim58,Velinov Milen59,Weksberg Rosanna36ORCID,Wilnai Yael60,Zadeh Neda61,Zand Dina J.62,Falk Marni J.218,Hakonarson Hakon1218ORCID,Zackai Elaine H.218,Quintero‐Rivera Fabiola3763ORCID

Affiliation:

1. Center for Applied Genomics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Mass General Hospital for Children Division of Medical Genetics and Metabolism and Harvard Medical School Boston Massachusetts USA

4. Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA

5. Faculty of Medicine University of Iceland Reykjavik Iceland

6. Landspitali University Hospital Iceland

7. Division of Neurogenetics and Hugo W. Moser Research Institute Kennedy Krieger Institute Baltimore Maryland USA

8. McKusick‐Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA

9. Department of Pediatrics Johns Hopkins University Baltimore Maryland USA

10. Departments of Neurology and Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland USA

11. Division of Genetics and Genomics, Boston Children's Hospital The Feingold Center for Children Boston Massachusetts USA

12. Department of Pediatrics University of Tennessee College of Medicine Chattanooga Tennessee USA

13. Division of Medical Genetics, Department of Pediatrics, Cedars‐Sinai Medical Center, and David Geffen School of Medicine University of California, Los Angeles (UCLA) Los Angeles California USA

14. Division of Medical Genetics, Department of Pediatrics University of California, and Rady Children's Hospital San Diego California USA

15. Munroe‐Meyer Institute University of Nebraska Medical Center Omaha Nebraska USA

16. Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

17. Division of Medical Genetics, Department of Pediatrics Weill Cornell Medicine New York New York USA

18. Department of Pediatrics University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania USA

19. Division of Medical Genetics University of Utah Salt Lake City Utah USA

20. Department of Medical Genomics Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

21. Division of Medical Genetics Alfred I duPont Hospital for Children Wilmington Delaware USA

22. Division of Medical Genomics Inova Translational Medicine Institute, Inova Fairfax Hospital Falls Church Virginia USA

23. Department of Medical Genetics University of Calgary Calgary Canada

24. Alberta Children's Hospital Research Institute, Cumming School of Medicine University of Calgary Calgary Canada

25. Department of Clinical Skills St. George's University True Blue Grenada

26. McMaster University Hamilton Canada

27. Genetic Institute, Tel‐Aviv Medical Center, affiliated to Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel

28. Division of Genetics, Department of Pediatrics University of California San Francisco San Francisco California USA

29. Department of Biochemistry St. George's University True Blue Grenada

30. Medical Genetics, Department of Pediatrics University of Massachusetts Medical School – Baystate Springfield Massachusetts USA

31. Division of Human Genetics, Department of Internal Medicine Ohio State University Wexner Medical Center Columbus Ohio USA

32. Children's Hospital of Minnesota Minneapolis Minnesota USA

33. Division of Medical Genetics, Department of Pediatrics San Antonio Military Medical Center San Antonio Texas USA

34. Department of Pediatrics Long School of Medicine‐UT Health San Antonio San Antonio Texas USA

35. Department of Pediatrics Stanford University School of Medicine Stanford California USA

36. Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children University of Toronto Toronto Canada

37. Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital The University of Hong Kong Pok Fu Lam Hong Kong SAR

38. Department of Pediatrics University of California Los Angeles California Los Angeles USA

39. UCLA Clinical Genomics Center University of California Los Angeles California Los Angeles USA

40. Department of Medical Genetics University of Alberta Edmonton Alberta Canada

41. Division of Neurology, Department of Pediatrics The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania USA

42. Division of Oncology, Department of Pediatrics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

43. Department of Pediatrics, Division of Genetics University of Rochester School of Medicine and Dentistry Rochester New York USA

44. Weisskopf Child Evaluation Center, Department of Pediatrics University of Louisville Louisville Kentucky USA

45. Division of Translational Medicine and Human Genetics Department of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

46. Department of Human Genetics University of Chicago Chicago Illinois USA

47. Molecular and Medical  Genetics Oregon Health and Science University Portland Oregon USA

48. Department of Neurology, Division of Child Neurology University of Rochester School of Medicine and Dentistry Rochester New York USA

49. MD Anderson Cancer Center at Cooper Cooper University Health Care Camden New Jersey USA

50. Phoenix Children's Hospital Phoenix Arizona USA

51. Department of Human Genetics Center for Duchenne Muscular Dystrophy University of California Los Angeles California Los Angeles USA

52. Department of Cancer Biology, Sidney Kimmel Cancer Center Thomas Jefferson University Philadelphia Pennsylvania USA

53. Clinical Genomics Center University of California Los Angeles Los Angeles California USA

54. Quest Diagnostics Kalamzoo Kalamzoo Michigan USA

55. Victorian Clinical Genetics Services Murdoch Children's Research Institute Melbourne Australia

56. Department of Paediatrics University of Melbourne Melbourne Australia

57. Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts USA

58. Mid‐Atlantic Permanente Medical Group Rockville Maryland USA

59. NYS Institute for Basic Research in developmental Disabilities Staten Island New York USA

60. Genetic Institute, Sourasky Medical Center, Te‐Aviv Tel Aviv Israel

61. Genetics Center and CHOC Children's Hospital Orange California USA

62. Rare Disease Institute Children's National Medical Center Washington District of Columbia USA

63. Department of Pathology and Laboratory Medicine University of California Los Angeles California Los Angeles USA

Funder

National Center for Advancing Translational Sciences

National Institutes of Health

Hartwell Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference46 articles.

1. Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature

2. The landscape of somatic mutations in infant MLL‐rearranged acute lymphoblastic leukemias;Andersson A. K.;Nature Publishing Group,2015

3. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome;Aoi H.;Journal of Human Genetics,2019

4. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

5. Connective Tissue Nevi: A Review of the Literature

Cited by 35 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3