Detalhe da pesquisa
1.
Phenotype-aware prioritisation of rare Mendelian disease variants.
Trends Genet
; 38(12): 1271-1283, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934592
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34260948
3.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758253
4.
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.
Brief Bioinform
; 23(5)2022 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35595299
5.
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Brain
; 146(7): 2869-2884, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36624280
6.
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Genet Med
; 25(11): 100922, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37403762
7.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
8.
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.
Hum Mutat
; 43(8): 1071-1081, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35391505
9.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 24(10): 2079-2090, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986737
10.
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic Acids Res
; 48(D1): D704-D715, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701156
11.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
; 47(D1): D1018-D1027, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476213
12.
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Hum Mutat
; 40(5): 578-587, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30710461
13.
The Human Phenotype Ontology in 2017.
Nucleic Acids Res
; 45(D1): D865-D876, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899602
14.
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Bioinformatics
; 33(15): 2421-2423, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334266
15.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 25(10): 100961, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650884
16.
Benign Yellow Dot Maculopathy: A New Macular Phenotype.
Ophthalmology
; 124(7): 1004-1013, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28366503
17.
Analysis of copy number variation at DMBT1 and age-related macular degeneration.
BMC Med Genet
; 17(1): 44, 2016 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27416785
18.
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
Hum Mol Genet
; 21(18): 4138-50, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22694956
19.
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
Ophthalmology
; 121(2): 580-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24199935
20.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
medRxiv
; 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196618