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
Inglês
| MEDLINE | ID: mdl-38531366
2.
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Hum Genomics
; 17(1): 45, 2023 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37269011
3.
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Int J Mol Sci
; 25(5)2024 Mar 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38474159
4.
Atypical Mutational Spectrum of SARS-CoV-2 Replicating in the Presence of Ribavirin.
Antimicrob Agents Chemother
; 67(1): e0131522, 2023 01 24.
Artigo
Inglês
| MEDLINE | ID: mdl-36602354
5.
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
Inglês
| MEDLINE | ID: mdl-36881176
6.
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Clin Genet
; 103(4): 448-452, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36719180
7.
CSVS, a crowdsourcing database of the Spanish population genetic variability.
Nucleic Acids Res
; 49(D1): D1130-D1137, 2021 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32990755
8.
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
Inglês
| MEDLINE | ID: mdl-36675087
9.
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.
Int J Mol Sci
; 24(2)2023 Jan 14.
Artigo
Inglês
| MEDLINE | ID: mdl-36675175
10.
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
Inglês
| MEDLINE | ID: mdl-36675122
11.
Comparison of Extracellular Vesicle Isolation Methods for miRNA Sequencing.
Int J Mol Sci
; 24(15)2023 Jul 29.
Artigo
Inglês
| MEDLINE | ID: mdl-37569568
12.
IL-6-based mortality prediction model for COVID-19: Validation and update in multicenter and second wave cohorts.
J Allergy Clin Immunol
; 147(5): 1652-1661.e1, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33662370
13.
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
Inglês
| MEDLINE | ID: mdl-35955564
14.
Targeted Therapy Modulates the Secretome of Cancer-Associated Fibroblasts to Induce Resistance in HER2-Positive Breast Cancer.
Int J Mol Sci
; 22(24)2021 Dec 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34948097
15.
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
Inglês
| MEDLINE | ID: mdl-34884523
16.
Asthma diagnosis using integrated analysis of eosinophil microRNAs.
Allergy
; 74(3): 507-517, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30040124
17.
Dosimetry-based high-activity therapy with 131I-metaiodobenzylguanidine (131I-mIBG) and topotecan for the treatment of high-risk refractory neuroblastoma.
Eur J Nucl Med Mol Imaging
; 46(7): 1567-1575, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-30838430
18.
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
Inglês
| MEDLINE | ID: mdl-37402845
19.
Systematic identification of phosphorylation-mediated protein interaction switches.
PLoS Comput Biol
; 13(3): e1005462, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28346509
20.
PTMcode v2: a resource for functional associations of post-translational modifications within and between proteins.
Nucleic Acids Res
; 43(Database issue): D494-502, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25361965