Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance-Reference-Cited by-同舟云学术

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Published:2019-01-04 Issue:2 Volume:7 Page:e00507
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Woodward Karen J.¹²,Stampalia Julie¹,Vanyai Hannah³⁴,Rijhumal Hashika¹,Potts Kim¹,Taylor Fiona¹,Peverall Joanne¹,Grumball Tanya¹,Sivamoorthy Soruba¹,Alinejad-Rokny Hamid³⁴,Wray John⁵,Whitehouse Andrew⁵,Nagarajan Lakshmi⁶⁷,Scurlock Jacqueline⁸,Afchani Sabine⁹¹⁰,Edwards Matthew¹¹,Murch Ashleigh¹²,Beilby John¹²,Baynam Gareth⁵⁷¹²¹³¹⁴,Kiraly-Borri Cathy⁶¹²,McKenzie Fiona⁷¹²,Heng Julian I. T.³⁴¹⁵^ORCID

Affiliation:

1. Diagnostic Genomics; PathWest Laboratory Medicine; Perth Western Australia Australia

2. School of Biomedical Sciences; University of Western Australia; Perth Western Australia Australia

3. The Harry Perkins Institute of Medical Research; QEII Medical Centre; Nedlands Western Australia Australia

4. Centre for Medical Research; University of Western Australia; Nedlands Western Australia Australia

5. Telethon Kids Institute; University of Western Australia; Perth Western Australia Australia

6. Children's Neuroscience Service; Princess Margaret Hospital; Subiaco Western Australia Australia

7. School of Paediatrics and Child Health; University of Western Australia; Perth Western Australia Australia

8. Rural Health West; Esperance; Western Australia Australia

9. Lockridge Child Development Centre; Lockridge Western Australia Australia

10. State Child Development Centre; West Perth Western Australia Australia

11. School of Medicine; Western Sydney University; Penrith South DC New South Wales Australia

12. Genetic Services of Western Australia; Perth Western Australia Australia

13. Department of Health; Office of Population Health Genomics, Public Health and Clinical Services Division; Perth Western Australia Australia

14. Institute for Immunology and Infectious Diseases; Murdoch University; Perth Western Australia Australia. Western Australian Register of Developmental Anomalies; Perth Western Australia Australia. Spatial Sciences, Science and Engineering; Curtin University; Perth Western Australia Australia

15. Curtin Health Innovation Research Institute and Sarich Neuroscience Institute; Curtin University; Crawley Western Australia Australia

Funder

Telethon Perth Children’s Hospital Research Fund

Raine Clinician Research Fellowship

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.507/fullpdf

Reference43 articles.

1. Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome;Aggarwal;Developmental Disabilities Research Reviews,2008