Detalhe da pesquisa
1.
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Am J Hum Genet
; 111(2): 393-402, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272031
2.
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Am J Hum Genet
; 111(4): 701-713, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531366
3.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Nature
; 592(7852): 93-98, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568816
4.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Hum Mol Genet
; 32(4): 595-607, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084042
5.
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
Am J Hum Genet
; 109(3): 457-470, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35120630
6.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Am J Hum Genet
; 109(11): 2029-2048, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243009
7.
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
Hum Mol Genet
; 31(12): 1970-1978, 2022 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999892
8.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Genet Med
; 26(6): 101106, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38420906
9.
Genetic profile of syndromic retinitis pigmentosa in Portugal.
Graefes Arch Clin Exp Ophthalmol
; 262(6): 1883-1897, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38189974
10.
The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.
Ophthalmic Res
; 67(1): 107-114, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38016437
11.
Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
Ophthalmic Res
; 67(1): 172-182, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160664
12.
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
Am J Hum Genet
; 107(5): 802-814, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022222
13.
A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.
Ophthalmic Res
; 66(1): 878-884, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37094557
14.
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases.
Proc Natl Acad Sci U S A
; 117(5): 2710-2716, 2020 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31964843
15.
Genomic and transcriptomic landscape of conjunctival melanoma.
PLoS Genet
; 16(12): e1009201, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33383577
16.
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Hum Mol Genet
; 29(13): 2250-2260, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533184
17.
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.
Hum Mol Genet
; 29(4): 618-623, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31903486
18.
Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness.
Ophthalmic Res
; 65(1): 104-110, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34781300
19.
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
PLoS Genet
; 15(8): e1008315, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31425546
20.
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Hum Mutat
; 42(3): 261-271, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300174