Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Genomic and transcriptomic landscape of conjunctival melanoma.
PLoS Genet
; 16(12): e1009201, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33383577
5.
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
6.
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
7.
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Clin Genet
; 99(6): 780-788, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33586135
8.
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Genet Med
; 21(12): 2734-2743, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31263216
9.
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Hum Mutat
; 43(12): 2326-2327, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317447
10.
Investigating the Ocular Surface Microbiome: What Can It Tell Us?
Clin Ophthalmol
; 17: 259-271, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36698849
11.
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
PNAS Nexus
; 2(3): pgad043, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909829
12.
A novel phenotype associated with the R162W variant in the KCNJ13 gene.
Ophthalmic Genet
; 43(4): 500-507, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35477418
13.
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.
Genes (Basel)
; 12(9)2021 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573379
14.
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
Sci Rep
; 11(1): 19332, 2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34588515
15.
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
Nat Commun
; 12(1): 518, 2021 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33483490
16.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
NPJ Genom Med
; 6(1): 53, 2021 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34188062
17.
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa.
Clin Dysmorphol
; 29(2): 86-89, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31634165
18.
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
Ophthalmic Genet
; 40(2): 177-181, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31012789
19.
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.
Genes (Basel)
; 11(1)2019 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31877759
20.
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy.
Ophthalmic Genet
; 43(4): 576-580, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35903041