Detalhe da pesquisa
1.
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Am J Hum Genet
; 109(11): 1960-1973, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332611
2.
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Hum Mutat
; 43(12): 2170-2186, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36217948
3.
Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes.
Hum Mol Genet
; 22(11): 2283-92, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23406874
4.
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
PLoS Genet
; 7(4): e1001372, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21533022
5.
Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease.
PLoS Genet
; 6(12): e1001195, 2010 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-21152001
6.
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
Mol Genet Genomic Med
; 10(10): e2023, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35985662
7.
DNA methylation heterogeneity defines a disease spectrum in Ewing sarcoma.
Nat Med
; 23(3): 386-395, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28134926
8.
Differential DNA Methylation Analysis without a Reference Genome.
Cell Rep
; 13(11): 2621-2633, 2015 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26673328
9.
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
Nat Genet
; 45(7): 730-8, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23749187
10.
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
Nat Genet
; 42(2): 123-7, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20062062