Search details
1.
Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity.
Nat Immunol
; 20(10): 1299-1310, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31534238
2.
The landscape of genomic structural variation in Indigenous Australians.
Nature
; 624(7992): 602-610, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38093003
3.
Polygenic Risk Scores Driving Clinical Change in Glaucoma.
Annu Rev Genomics Hum Genet
; 2024 Apr 10.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-33973672
13.
Exome-based investigation of the genetic basis of human pigmentary glaucoma.
BMC Genomics
; 22(1): 477, 2021 Jun 26.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-31700225