Detalhe da pesquisa
1.
Novel genes and sex differences in COVID-19 severity.
Hum Mol Genet
; 31(22): 3789-3806, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35708486
2.
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
3.
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Int J Mol Sci
; 25(5)2024 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38474159
4.
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
5.
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
6.
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
Clin Genet
; 103(2): 236-241, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250766
7.
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.
J Med Genet
; 59(5): 428-437, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33782094
8.
CSVS, a crowdsourcing database of the Spanish population genetic variability.
Nucleic Acids Res
; 49(D1): D1130-D1137, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32990755
9.
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
10.
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
em Inglês
| MEDLINE | ID: mdl-36675175
11.
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
12.
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
13.
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
J Med Genet
; 58(8): 570-578, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817297
14.
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
em Inglês
| MEDLINE | ID: mdl-33662370
15.
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
16.
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Exp Eye Res
; 212: 108761, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34492281
17.
Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells.
Int J Mol Sci
; 22(4)2021 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33672445
18.
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
19.
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
Hum Genet
; 139(10): 1209-1231, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32274568
20.
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
J Hum Genet
; 65(5): 487-491, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015378