Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
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| Title: | Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. |
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| Authors: | Akesson LS; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Genetics Clinic, Monash Health, Monash Medical Centre, Clayton, Victoria, Australia., Bournazos A; Kids Neuroscience Centre, Children's Hospital at Westmead, Sydney, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Fennell A; Genetics Clinic, Monash Health, Monash Medical Centre, Clayton, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia., Krzesinski EI; Genetics Clinic, Monash Health, Monash Medical Centre, Clayton, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia., Tan K; Department of Paediatrics, Monash University, Melbourne, Australia.; Monash Newborn, Monash Health, Monash Children's Hospital, Clayton, Victoria, Australia., Springer A; Genetics Clinic, Monash Health, Monash Medical Centre, Clayton, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia., Rose K; Genetics Clinic, Monash Health, Monash Medical Centre, Clayton, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia., Goranitis I; Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australia.; Australian Genomics Health Alliance, Parkville, Victoria, Australia., Francis D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Lee C; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Faiz F; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Australia., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Australia., Christodoulou J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Australian Genomics Health Alliance, Parkville, Victoria, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Australian Genomics Health Alliance, Parkville, Victoria, Australia.; Department of Clinical Pathology, University of Melbourne, Melbourne, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Australian Genomics Health Alliance, Parkville, Victoria, Australia., Hunter MF; Genetics Clinic, Monash Health, Monash Medical Centre, Clayton, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Australia., Cooper ST; Kids Neuroscience Centre, Children's Hospital at Westmead, Sydney, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Children's Medical Research Institute, Sydney, Australia. |
| Source: | Human mutation [Hum Mutat] 2020 Nov; Vol. 41 (11), pp. 1884-1891. Date of Electronic Publication: 2020 Sep 09. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.24101 |
