Detalhe da pesquisa
1.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med
; 26(5): 101076, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258669
2.
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
3.
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Am J Med Genet A
; 188(12): 3432-3447, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36367278
4.
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Hum Mutat
; 41(11): 1884-1891, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906196
5.
The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service.
Genet Med
; 22(1): 210-218, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292527
6.
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
7.
Mainstreaming genomic testing: pre-test counselling and informed consent.
Med J Aust
; 220(8): 403-406, 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479398
8.
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
Eur J Hum Genet
; 31(4): 371-374, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732660