Detalhe da pesquisa
1.
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Hum Genomics
; 17(1): 45, 2023 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37269011
2.
Germline gain-of-function MMP11 variant results in an aggressive form of colorectal cancer.
Int J Cancer
; 152(2): 283-297, 2023 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36093604
3.
VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
Hum Genet
; 142(4): 495-506, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36881176
4.
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Clin Genet
; 103(4): 448-452, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36719180
5.
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.
Int J Mol Sci
; 24(2)2023 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675087
6.
Analysis of Differentially Expressed MicroRNAs in Serum and Lung Tissues from Individuals with Severe Asthma Treated with Oral Glucocorticoids.
Int J Mol Sci
; 24(2)2023 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675122
7.
Comparison of Extracellular Vesicle Isolation Methods for miRNA Sequencing.
Int J Mol Sci
; 24(15)2023 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37569568
8.
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
Int J Mol Sci
; 23(15)2022 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955564
9.
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Int J Mol Sci
; 22(23)2021 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884523
10.
Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
Hum Genet
; 142(7): 995, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37402845
11.
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Am J Ophthalmol
; 254: 87-103, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37327959
12.
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.
Sci Rep
; 12(1): 10369, 2022 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35725860
13.
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
NPJ Genom Med
; 7(1): 7, 2022 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35087072