Detalhe da pesquisa
1.
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity.
Nat Immunol;
20(10): 1299-1310, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31534238
2.
The landscape of genomic structural variation in Indigenous Australians.
Nature;
624(7992): 602-610, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38093003
3.
Polygenic Risk Scores Driving Clinical Change in Glaucoma.
Annu Rev Genomics Hum Genet;
2024 Apr 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38599222
4.
High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma.
Hum Mol Genet;
33(9): 739-751, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38272457
5.
Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA.
Am J Hum Genet;
108(7): 1204-1216, 2021 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34077762
6.
The P4-type ATPase ATP11C is essential for B lymphopoiesis in adult bone marrow.
Nat Immunol;
12(5): 434-40, 2011 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21423172
7.
High Polygenic Risk Is Associated with Earlier Initiation and Escalation of Treatment in Early Primary Open-Angle Glaucoma.
Ophthalmology;
130(8): 830-836, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37044160
8.
Genetic Risk Assessment of Degenerative Eye Disease (GRADE): study protocol of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration.
BMC Ophthalmol;
23(1): 431, 2023 Oct 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37875865
9.
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
10.
An Slfn2 mutation causes lymphoid and myeloid immunodeficiency due to loss of immune cell quiescence.
Nat Immunol;
11(4): 335-43, 2010 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20190759
11.
The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.
Mol Vis;
28: 257-268, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36284667
12.
A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type.
Hum Mutat;
42(7): 818-826, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33973672
13.
Exome-based investigation of the genetic basis of human pigmentary glaucoma.
BMC Genomics;
22(1): 477, 2021 Jun 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34174832
14.
Corneal Stiffness Parameters Are Predictive of Structural and Functional Progression in Glaucoma Suspect Eyes.
Ophthalmology;
128(7): 993-1004, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33245936
15.
Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry.
Ophthalmology;
128(11): 1549-1560, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33892047
16.
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.
Am J Med Genet A;
185(2): 434-439, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33231930
17.
An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity.
Ophthalmology;
127(7): 901-907, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32081492
18.
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma.
Ophthalmology;
127(6): 758-766, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32085876
19.
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Clin Genet;
97(5): 764-769, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32052405
20.
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.
Mol Vis;
25: 527-534, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31700225