Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate-Reference-Cited by-同舟云学术

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

Published:2020-09-09 Issue:11 Volume:41 Page:1884-1891
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Akesson Lauren S.¹²³^ORCID,Bournazos Adam⁴⁵^ORCID,Fennell Andrew³⁶,Krzesinski Emma I.³⁶,Tan Kenneth⁶⁷,Springer Amanda³⁶,Rose Katherine³⁶,Goranitis Ilias⁸⁹,Francis David¹,Lee Crystle¹,Faiz Fathimath¹⁰,Davis Mark R.¹⁰,Christodoulou John¹²⁹¹¹,Lunke Sebastian¹⁹¹²,Stark Zornitza¹²⁹^ORCID,Hunter Matthew F.³⁶,Cooper Sandra T.⁴⁵¹³^ORCID

Affiliation:

1. Victorian Clinical Genetics Services Murdoch Children's Research Institute Parkville Victoria Australia

2. Department of Paediatrics University of Melbourne Melbourne Australia

3. Genetics Clinic, Monash Health Monash Medical Centre Clayton Victoria Australia

4. Kids Neuroscience Centre Children's Hospital at Westmead Sydney Australia

5. Faculty of Medicine and Health University of Sydney Sydney Australia

6. Department of Paediatrics Monash University Melbourne Australia

7. Monash Newborn, Monash Health Monash Children's Hospital Clayton Victoria Australia

8. Melbourne School of Population and Global Health University of Melbourne Melbourne Australia

9. Australian Genomics Health Alliance Parkville Victoria Australia

10. Department of Diagnostic Genomics PathWest Laboratory Medicine Perth Australia

11. Brain and Mitochondrial Research Group Murdoch Children's Research Institute Melbourne Australia

12. Department of Clinical Pathology University of Melbourne Melbourne Australia

13. Children's Medical Research Institute Sydney Australia

Funder

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24101

Reference28 articles.

1. Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency

2. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism

3. Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency

4. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

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