Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus-Reference-Cited by-同舟云学术

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Published:2022-09-22 Issue:12 Volume:188 Page:3492-3504
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Sy Mary R.¹,Chauhan Jaynee²,Prescott Katrina²,Imam Aliza²,Kraus Alison²,Beleza Ana³,Salkeld Lee⁴,Hosdurga Saraswati⁵,Parker Michael⁶,Vasudevan Pradeep⁷,Islam Lily⁸,Goel Himanshu⁹¹⁰^ORCID,Bain Nicole¹¹,Park Soo‐Mi¹²,Mohammed Shehla¹³,Dieterich Klaus¹⁴¹⁵^ORCID,Coutton Charles¹⁴¹⁶,Satre Véronique¹⁴¹⁶,Vieville Gaëlle¹⁴,Donaldson Alan¹⁷,Beneteau Claire¹⁸,Ghoumid Jamal¹⁹,Van Den Bogaert Kris²⁰,Boogaerts Anneleen²⁰,Boudry Elise²¹,Vanlerberghe Clémence¹⁹,Petit Florence¹⁹,Bernardini Laura²²^ORCID,Torres Barbara²²,Mattina Teresa²³²⁴,Carli Diana²⁵^ORCID,Mandrile Giorgia²⁶,Pinelli Michele²⁷²⁸^ORCID,Brunetti‐Pierri Nicola²⁸²⁹^ORCID,Neas Katherine³⁰,Beddow Rachel³¹,Tørring Pernille M.³²,Faletra Flavio³³^ORCID,Spedicati Beatrice³⁴,Gasparini Paolo³³³⁴,Mussa Alessandro²⁵³⁵,Ferrero Giovanni Battista³⁶,Lampe Anne³⁷,Lam Wayne³⁸,Bi Weimin¹³⁹,Bacino Carlos A.¹,Kuwahara Akela⁴⁰⁴¹⁴²,Bush Jeffrey O.⁴⁰⁴¹⁴²,Zhao Xiaonan¹³⁹,Luna Pamela N.¹,Shaw Chad A.¹,Rosenfeld Jill A.¹,Scott Daryl A.¹⁴³^ORCID

Affiliation:

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

2. Yorkshire Regional Genetics Service Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital Leeds UK

3. Clinical Genetics Department University Hospitals Bristol and Weston, Bristol NHS Foundation Bristol UK

4. Whiteladies Medical Group Bristol UK

5. Community Children's Health Partnership, Sirona Health and Care Bristol UK

6. Sheffield Children's NHS Foundation Trust Sheffield UK

7. University Hospitals of Leicester NHS Trust Leicester UK

8. Birmingham Women's and Children's Hospital NHS Foundation Trust Birmingham UK

9. Hunter Genetics, Hunter New England Local Health District Waratah New South Wales Australia

10. University of Newcastle Callaghan New South Wales Australia

11. Department of Molecular Medicine New South Wales Health Pathology Newcastle New South Wales Australia

12. East Anglian Medical Genetics Service Cambridge University Hospitals NHS Foundation Trust Cambridge UK

13. Guy's and St Thomas' NHS Foundation Trust London UK

14. Département de Génétique et Procréation Hôpital Couple Enfant, CHU Grenoble Grenoble France

15. INSERM U1216 Grenoble Institut des Neurosciences, Cellular Myology and Pathology Grenoble France

16. Genetic Epigenetic and Therapies of Infertility Team Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes Grenoble France

17. Clinical Genetics Department St Michaels Hospital Bristol UK

18. Nantes Université, CHU de Nantes, UF 9321 de Fœtopathologie et Génétique Nantes France

19. Université de Lille, ULR7364 RADEME, CHU Lille, Clinique de Génétique Guy Fontaine Lille France

20. Center for Human Genetics University Hospitals Leuven–KU Leuven Leuven Belgium

21. CHU Lille, Institut de Génétique Médicale Lille France

22. Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy

23. Department of Biomedical and Biotechnological Sciences, Medical Genetics University of Catania Catania Italy

24. Scientific Foundation and Clinic G. B. Morgagni Catania Italy

25. Department of Public Health and Pediatrics University of Torino Torino Italy

26. Medical Genetics Unit San Luigi University Hospital, University of Torino Orbassano Italy

27. Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II Naples Italy

28. Telethon Institute of Genetics and Medicine (TIGEM) Pozzuoli Italy

29. Department of Translational Medicine University of Naples Federico II Naples Italy

30. Genetic Health Service NZ Wellington New Zealand

31. Wellington Regional Genetics Laboratory Wellington New Zealand

32. Department of Clinical Genetics Odense University Hospital Odense Denmark

33. Institute for Maternal and Child Health ‐ IRCCS Burlo Garofolo Trieste Italy

34. Department of Medicine, Surgery and Health Sciences University of Trieste Trieste Italy

35. Pediatric Clinical Genetics Unit Regina Margherita Children's Hospital Torino Italy

36. Department of Clinical and Biological Sciences Università degli Studi di Torino Torino Italy

37. South East Scotland Clinical Genetics Service Western General Hospital Edinburgh UK

38. Department of Clinical Genetics Western General Hospital Edinburgh UK

39. Baylor Genetics Houston Texas USA

40. Department of Cell and Tissue Biology University of California San Francisco San Francisco California USA

41. Institute for Human Genetics, University of California San Francisco San Francisco California USA

42. Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research University of California San Francisco San Francisco California USA

43. Department of Molecular Physiology and Biophysics Baylor College of Medicine Houston Texas USA

Funder

Department of Health, Social Services and Public Safety, UK Government

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62976

Reference58 articles.

1. Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

2. Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

3. The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

4. Structural and numerical changes of chromosome X in patients with esophageal atresia

5. Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

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