Identifying phenotypic expansions for congenital diaphragmatic hernia plus ( <scp>CDH</scp> +) using <scp>DECIPHER</scp> data-Reference-Cited by-同舟云学术

Identifying phenotypic expansions for congenital diaphragmatic hernia plus ( CDH +) using DECIPHER data

Published:2022-07-29 Issue:10 Volume:188 Page:2958-2968
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:

Hardcastle Amy¹,Berry Aliska M.²,Campbell Ian M.³,Zhao Xiaonan²⁴,Liu Pengfei²⁴^ORCID,Gerard Amanda E.²⁵,Rosenfeld Jill A.²,Sisoudiya Saumya D.²,Hernandez‐Garcia Andres²,Loddo Sara⁶^ORCID,Di Tommaso Silvia⁶,Novelli Antonio⁶,Dentici Maria L.⁷⁸^ORCID,Capolino Rossella⁷⁸,Digilio Maria C.⁷⁸,Graziani Ludovico⁸⁹,Rustad Cecilie F.¹⁰,Neas Katherine¹¹,Ferrero Giovanni B.¹²,Brusco Alfredo¹³¹⁴^ORCID,Di Gregorio Eleonora¹⁴,Wellesley Diana¹⁵¹⁶,Beneteau Claire¹⁷,Joubert Madeleine¹⁷,Van Den Bogaert Kris¹⁸,Boogaerts Anneleen¹⁸,McMullan Dominic J.¹⁹,Dean John²⁰,Giuffrida Maria G.²¹,Bernardini Laura²¹^ORCID,Varghese Vinod²²,Shannon Nora L.²³,Harrison Rachel E.²³,Lam Wayne W. K.²⁴,McKee Shane²⁵,Turnpenny Peter D.²⁶,Cole Trevor²⁷,Morton Jenny²⁷,Eason Jacqueline²³,Jones Marilyn C.²⁸^ORCID,Hall Rebecca²⁹,Wright Michael²⁹,Horridge Karen³⁰,Shaw Chad A.²,Chung Wendy K.³¹³²,Scott Daryl A.²⁵³³^ORCID

Affiliation:

1. Department of Microbiology and Molecular Biology, College of Life Sciences Brigham Young University Provo Utah USA

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

3. Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

4. Baylor Genetics Houston Texas USA

5. Texas Children's Hospital Houston Texas USA

6. Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS Rome Italy

7. Medical Genetics Unit, Academic Department of Pediatrics Bambino Gesù Children's Hospital, IRCCS Rome Italy

8. Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù IRCCS Rome Italy

9. Medical Genetics Unit, Tor Vergata Hospital Rome Italy

10. Department of Medical Genetics Oslo University Hospital Oslo Norway

11. Genetic Health Service NZ Wellington New Zealand

12. Department of Clinical and Biological Sciences University of Torino Orbassano Italy

13. Department of Medical Sciences University of Torino Torino Italy

14. Città della Salute e della Scienza University Hospital Torino Italy

15. Wessex Clinical Genetics Service Princess Anne Hospital Southampton Hampshire UK

16. University Hospital Southampton Southampton Hampshire UK

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

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

19. West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust UK

20. Clinical Genetics Service, Ashgrove House, NHS Grampian Aberdeen UK

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

22. All Wales Medical Genomics Service Cardiff UK

23. Clinical Genetics Service, Nottingham University Hospitals NHS Trust Nottingham UK

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

25. Northern Ireland Regional Genetics Service Belfast City Hospital Belfast UK

26. Clinical Genetics Department Royal Devon and Exeter Hospital Exeter UK

27. Clinical Genetics Unit Birmingham Women's Hospital Birmingham UK

28. University of California San Diego and Rady Children's Hospital San Diego California USA

29. The Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

30. South Tyneside and Sunderland NHS Foundation Trust Sunderland UK

31. Department of Pediatrics Columbia University New York USA

32. Department of Medicine Columbia University New York USA

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

Funder

Cancer Prevention and Research Institute of Texas

National Institutes of Health

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62919

Reference52 articles.

1. Nonsense variants of STAG2 result in distinct congenital anomalies

2. A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing theHMGB1andKATNAL1genes

3. SMARCA4 regulates gene expression and higher-order chromatin structure in proliferating mammary epithelial cells

4. Congenital posterolateral diaphragmatic hernia: Associated malformations

5. Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

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