Detalhe da pesquisa
1.
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Dev Med Child Neurol
; 65(1): 50-57, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35701389
2.
Using a theory informed approach to design, execute, and evaluate implementation strategies to support offering reproductive genetic carrier screening in Australia.
BMC Health Serv Res
; 23(1): 1276, 2023 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981708
3.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906502
4.
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Genet Med
; 22(12): 1976-1985, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719395
5.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573669
6.
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Brain Commun
; 6(2): fcae056, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38444904
7.
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Nat Med
; 29(7): 1681-1691, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37291213
8.
Co-design, implementation, and evaluation of plain language genomic test reports.
NPJ Genom Med
; 7(1): 61, 2022 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36272999
9.
Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life.
BMJ Open Respir Res
; 9(1)2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35190460
10.
The role of exome sequencing in childhood interstitial or diffuse lung disease.
Orphanet J Rare Dis
; 17(1): 350, 2022 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36085161
11.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
J Pers Med
; 12(11)2022 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36579509
12.
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
Eur J Hum Genet
; 29(1): 79-87, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32678339