Detalhe da pesquisa
1.
Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus.
Lab Invest
; 103(8): 100160, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37088464
2.
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.
Ophthalmology
; 130(1): 68-76, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934205
3.
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
J Med Genet
; 59(8): 737-747, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716235
4.
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
J Med Genet
; 59(12): 1151-1164, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35764379
5.
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Mol Vis
; 28: 57-69, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35693420
6.
Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
Mol Vis
; 28: 48-56, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35693422
7.
New variants and in silico analyses in GRK1 associated Oguchi disease.
Hum Mutat
; 42(2): 164-176, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252155
8.
Defects in the Cell Signaling Mediator ß-Catenin Cause the Retinal Vascular Condition FEVR.
Am J Hum Genet
; 100(6): 960-968, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575650
9.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Genet Med
; 22(12): 2041-2051, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32753734
10.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(6): 1319-1329, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377383
11.
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(4): 1028, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607024
12.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Hum Mol Genet
; 25(20): 4546-4555, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173158
13.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-25983245
15.
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.
Retina
; 38(3): 620-628, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28234808
16.
Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort.
Am J Med Genet C Semin Med Genet
; 190(1): 5-8, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35289502
17.
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Am J Hum Genet
; 93(6): 1143-50, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24290379
18.
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
Proc Natl Acad Sci U S A
; 110(24): 9856-61, 2013 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23716654
19.
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
Hum Mol Genet
; 22(7): 1358-72, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23283079
20.
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
Mol Vis
; 21: 236-43, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25802487