Detalhe da pesquisa
1.
Australian public perspectives on genomic newborn screening: which conditions should be included?
Hum Genomics
; 18(1): 45, 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38720401
2.
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Am J Hum Genet
; 108(9): 1551-1557, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329581
3.
Gene selection for genomic newborn screening: Moving toward consensus?
Genet Med
; 26(5): 101077, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38275146
4.
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry
; 28(4): 1647-1663, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36117209
5.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
; 25(10): 100927, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422718
6.
Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.
Clin Chem
; 69(8): 890-900, 2023 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37443404
7.
An incidental finding in prenatal exome sequencing-A case study and review of the clinical and ethical considerations.
Am J Med Genet A
; 191(12): 2856-2859, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37578328
8.
Prenatal diagnosis of cleft lip and/or palate: What do we tell prospective parents?
Prenat Diagn
; 43(10): 1310-1319, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37552068
9.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
J Med Genet
; 59(8): 748-758, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740920
10.
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
11.
Etiology, Comorbidities, and Health Service Use in a Clinical Cohort of Children With Hearing Loss.
Ear Hear
; 43(6): 1836-1844, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35943238
12.
Personal utility of genomic sequencing for infants with congenital deafness.
Am J Med Genet A
; 185(12): 3634-3643, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184819
13.
Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.
Genet Med
; 22(5): 937-944, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31974413
14.
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Genet Med
; 22(12): 1986-1993, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32773771
15.
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry
; 28(4): 1664-1666, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36658335
16.
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.
J Genet Couns
; 28(2): 388-397, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30776170
17.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
; 25(11): 100964, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728613
18.
Advances in genomic testing.
Aust Fam Physician
; 46(4): 200-205, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28376572
19.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Genet Med
; 18(11): 1090-1096, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26938784
20.
Congenital chylothorax: associations and neonatal outcomes.
J Paediatr Child Health
; 50(3): 234-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24372911