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.
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
J Paediatr Child Health
; 60(4-5): 118-124, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605555
3.
The health care and societal costs of inherited retinal diseases in Australia: a microsimulation modelling study.
Med J Aust
; 219(2): 70-76, 2023 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301731
4.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916866
5.
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
J Med Genet
; 58(9): 609-618, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33060286
6.
Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
J Paediatr Child Health
; 58(1): 8-15, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34427008
7.
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
Int J Mol Sci
; 23(7)2022 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35409265
8.
Genome sequencing in congenital cataracts improves diagnostic yield.
Hum Mutat
; 42(9): 1173-1183, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34101287
9.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652576
10.
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).
Genet Med
; 23(7): 1356-1365, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824503
11.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 23(12): 2415-2425, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400813
12.
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
J Paediatr Child Health
; 57(4): 477-483, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33566436
13.
Targeted knockout of a chemokine-like gene increases anxiety and fear responses.
Proc Natl Acad Sci U S A
; 115(5): E1041-E1050, 2018 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29339520
14.
Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Genet Med
; 22(10): 1623-1632, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499604
15.
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.
Mol Psychiatry
; 24(7): 1065-1078, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29463886
16.
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
17.
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
Am J Med Genet A
; 179(8): 1585-1590, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175705
18.
Precision medicine in Australia: now is the time to get it right.
Med J Aust
; 218(7): 331, 2023 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36924106
19.
U-Net Implementation for High Throughput Grain Boundary Detection in Bright Field TEM Micrographs: Toward In Situ Grain Growth Studies.
Microsc Microanal
; 29(Supplement_1): 1581-1582, 2023 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37613857
20.
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
Hum Mol Genet
; 24(20): 5789-804, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26231217