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1.
Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26.
Proc Natl Acad Sci U S A
; 119(20): e2118510119, 2022 05 17.
Article
in English
| MEDLINE | ID: mdl-35561216
2.
Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.
Am J Hum Genet
; 108(8): 1385-1400, 2021 08 05.
Article
in English
| MEDLINE | ID: mdl-34260948
3.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
; 26(3): 101036, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38054408
4.
A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
J Med Genet
; 60(12): 1245-1249, 2023 Nov 27.
Article
in English
| MEDLINE | ID: mdl-37460203
5.
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
J Med Genet
; 60(8): 810-818, 2023 08.
Article
in English
| MEDLINE | ID: mdl-36669873
6.
Improving the clinical interpretation of missense variants in X linked genes using structural analysis.
J Med Genet
; 59(4): 385-392, 2022 04.
Article
in English
| MEDLINE | ID: mdl-33766936
7.
LASER PROPHYLAXIS IN STICKLER SYNDROME: The Manchester Protocol.
Retina
; 43(1): 88-93, 2023 01 01.
Article
in English
| MEDLINE | ID: mdl-36165842
8.
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
J Med Genet
; 58(8): 570-578, 2021 08.
Article
in English
| MEDLINE | ID: mdl-32817297
9.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
; 47(D1): D1018-D1027, 2019 01 08.
Article
in English
| MEDLINE | ID: mdl-30476213
10.
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genet Med
; 22(4): 745-751, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31848469
11.
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
J Med Genet
; 55(2): 114-121, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29074561
12.
The Human Phenotype Ontology in 2017.
Nucleic Acids Res
; 45(D1): D865-D876, 2017 01 04.
Article
in English
| MEDLINE | ID: mdl-27899602
13.
Inherited Retinal Disorders: Using Evidence as a Driver for Implementation.
Ophthalmologica
; 242(4): 187-194, 2019.
Article
in English
| MEDLINE | ID: mdl-31280272
14.
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
Am J Hum Genet
; 96(6): 948-54, 2015 Jun 04.
Article
in English
| MEDLINE | ID: mdl-25983245
16.
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
Am J Hum Genet
; 94(5): 760-9, 2014 May 01.
Article
in English
| MEDLINE | ID: mdl-24791901
17.
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
Ophthalmology
; 124(7): 985-991, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28341476
18.
Molecular findings from 537 individuals with inherited retinal disease.
J Med Genet
; 53(11): 761-767, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27208204
19.
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.
Am J Hum Genet
; 93(2): 321-9, 2013 Aug 08.
Article
in English
| MEDLINE | ID: mdl-23849777
20.
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Am J Hum Genet
; 93(6): 1143-50, 2013 Dec 05.
Article
in English
| MEDLINE | ID: mdl-24290379