Detalhe da pesquisa
1.
Genomic newborn screening for rare diseases.
Nat Rev Genet
; 24(11): 755-766, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386126
2.
Role of CAMK2D in neurodevelopment and associated conditions.
Am J Hum Genet
; 111(2): 364-382, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272033
3.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
4.
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Am J Hum Genet
; 110(5): 809-825, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37075751
5.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Am J Hum Genet
; 110(3): 419-426, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868206
6.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Hum Mol Genet
; 32(15): 2441-2454, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37133451
7.
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
8.
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Hum Mol Genet
; 31(4): 614-624, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34542157
9.
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Hum Mol Genet
; 31(21): 3597-3612, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35147173
10.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet
; 108(9): 1692-1709, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375587
11.
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
12.
Determining priority indicators of utility for genomic testing in rare disease: A Delphi study.
Genet Med
; 26(6): 101116, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459833
13.
The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study.
Genet Med
; 26(4): 101058, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38164890
14.
Gene selection for genomic newborn screening: Moving toward consensus?
Genet Med
; 26(5): 101077, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38275146
15.
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genet Med
; 26(2): 101029, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982373
16.
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
17.
Determining the utility of diagnostic genomics: a conceptual framework.
Hum Genomics
; 17(1): 75, 2023 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37587497
18.
The application of long-read sequencing in clinical settings.
Hum Genomics
; 17(1): 73, 2023 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553611
19.
Microcosting diagnostic genomic sequencing: A systematic review.
Genet Med
; 25(6): 100829, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36939042
20.
Genomic testing for suspected monogenic kidney disease in children and adults: A health economic evaluation.
Genet Med
; 25(11): 100942, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37489581