The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients-Reference-Cited by-同舟云学术

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

Published:2019-11-13 Issue:4 Volume:181 Page:557-564
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Ostrowski Philip J.¹^ORCID,Zachariou Anna²,Loveday Chey³,Beleza‐Meireles Ana⁴,Bertoli Marta⁵,Dean John⁶,Douglas Andrew G. L.⁷⁸,Ellis Ian⁹,Foster Alison¹⁰¹¹^ORCID,Graham John M.¹²¹³,Hague Jennifer¹⁴,Hilhorst‐Hofstee Yvonne¹⁵,Hoffer Mariette¹⁵,Johnson Diana¹⁶,Josifova Dragana⁴^ORCID,Kant Sarina G.¹⁵,Kini Usha¹⁷,Lachlan Katherine⁷,Lam Wayne¹⁸,Lees Melissa¹⁹,Lynch Sally²⁰,Maitz Silvia²¹,McKee Shane²²,Metcalfe Kay²³,Nathanson Katherine²⁴,Ockeloen Charlotte W.²⁵,Parker Michael J.¹⁶,Pierson Tyler M.²⁶^ORCID,Rahikkala Elisa²⁷,Sanchez‐Lara Pedro A.¹²¹³,Spano Alice²¹,Van Maldergem Lionel²⁸²⁹,Cole Trevor¹¹,Douzgou Sofia³⁰³¹,Tatton‐Brown Katrina¹³²

Affiliation:

1. South West Thames Regional Genetics ServiceSt George's University NHS Foundation Trust London UK

2. Division of Clinical StudiesInstitute of Cancer Research London UK

3. Division of Genetics and EpidemiologyInstitute of Cancer Research London UK

4. Clinical Genetics DepartmentGuy's and St. Thomas NHS Trust London UK

5. Northern Genetics ServiceNewcastle upon Tyne NHS Foundation Trust Newcastle upon Tyne UK

6. North of Scotland Medical Genetic ServiceAberdeen Royal Infirmary Aberdeen UK

7. Wessex Clinical Genetics ServicePrincess Anne Hospital Southampton UK

8. Human Development and Health, Duthie BuildingUniversity of Southampton Southampton UK

9. Department of Clinical GeneticsLiverpool Women's NHS Foundation Trust Liverpool UK

10. Institute of Cancer and Genomic SciencesUniversity of Birmingham Birmingham UK

11. West Midlands Regional Genetics ServiceBirmingham Women's and Children's NHS Foundation Trust Birmingham UK

12. David Geffen School of Medicine at the University of CaliforniaLos Angeles (UCLA) Los Angeles California

13. Department of PediatricsCedars‐Sinai Medical Center Los Angeles California

14. East of England Regional Medical Genetics ServiceAddenbrooke's Hospital Cambridge UK

15. Department of Clinical GeneticsLeiden University Medical Center Leiden Netherlands

16. Sheffield Clinical Genetics ServiceSheffield Children's NHS Foundation Trust Sheffield UK

17. Oxford Centre for Genomic MedicineOxford University Hospitals NHS Foundation Trust Oxford UK

18. Department of Clinical GeneticsWestern General Hospital Edinburgh UK

19. Clinical Genetics UnitGreat Ormond Street Hospital London UK

20. Temple Street Children's Hospital Dublin Ireland

21. Pediatric Genetics Unit, MBBM FoundationS. Gerardo Hospital Monza Italy

22. Northern Ireland Regional Genetics Centre, Belfast Health and Social Care TrustBelfast City Hospital Belfast UK

23. Manchester Centre for Genomic MedicineCentral Manchester University Hospitals NHS Foundation Trust Manchester UK

24. Abramson Cancer CenterUniversity of Pennsylvania Philadelphia Pennsylvania

25. Department of Human GeneticsRadboud University Medical Center Nijmegen Netherlands

26. Department of Pediatrics and Neurology, and the Board of Governors Regenerative Medicine InstituteCedars‐Sinai Medical Center Los Angeles California

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

28. Centre de Génétique HumaineUniversité de Franche‐Comté Besançon France

29. Clinical Investigation Center 1431National Institute of Health & Medical Research (INSERM) Besançon France

30. Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation TrustManchester Academic Health Sciences Centre Manchester UK

31. Division of Evolution and Genomic Sciences, School of Biological SciencesUniversity of Manchester Manchester UK

32. St George's University of London London UK

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31749

Reference22 articles.

1. Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

2. The clinical presentation caused by truncating CHD8 variants

3. Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involvingCHD8

4. Ellard S. Baple E. Berry I. Forrester N. Turnbull C. Owens M. …McMullan D.(2019).ACGS Best Practice Guidelines for Variant Classification 2019. Retrieved fromhttps://www.acgs.uk.com/media/11285/uk‐practice‐guidelines‐for‐variant‐classification‐2019‐v1‐0‐3.pdf.

5. The Deciphering Developmental Disorders (DDD) study

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