Detalhe da pesquisa
1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38118446
2.
CHARR efficiently estimates contamination from DNA sequencing data.
Am J Hum Genet
; 110(12): 2068-2076, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38000370
3.
GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.
Nucleic Acids Res
; 50(5): 2522-2535, 2022 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35234913
4.
Investigating an in silico approach for prioritizing antidepressant drug prescription based on drug-induced expression profiles and predicted gene expression.
Pharmacogenomics J
; 21(1): 85-93, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32943772
5.
Whole Blood Transcriptome Characterization of 3xTg-AD Mouse and Its Modulation by Transcranial Direct Current Stimulation (tDCS).
Int J Mol Sci
; 22(14)2021 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34299250
6.
GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.
Bioinformatics
; 34(17): 3038-3040, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29668842
7.
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.
Hum Mutat
; 39(9): 1203-1213, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29882371
8.
Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variables.
BMC Genomics
; 19(1): 963, 2018 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30587120
9.
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.
J Med Genet
; 59(4): 366-369, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547136
10.
Genomic and biochemical characterization of sialic acid acetylesterase (siae) in zebrafish.
Glycobiology
; 27(10): 938-946, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28922741
11.
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
Am J Med Genet A
; 173(1): 169-176, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27739212
12.
Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies.
Hum Genet
; 135(5): 499-511, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27003585
13.
Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease.
Biochim Biophys Acta
; 1842(4): 665-75, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24463171
14.
Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme.
Glycobiology
; 25(9): 992-1006, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26022516
15.
Computational and functional analysis of biopharmaceutical drugs in zebrafish: Erythropoietin as a test model.
Pharmacol Res
; 102: 12-21, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26361727
16.
Substrate-immobilized HIV-1 Tat drives VEGFR2/α(v)ß(3)-integrin complex formation and polarization in endothelial cells.
Arterioscler Thromb Vasc Biol
; 32(5): e25-34, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22362758
17.
Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder.
World J Biol Psychiatry
; 24(2): 135-148, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35615967
18.
CHARR efficiently estimates contamination from DNA sequencing data.
bioRxiv
; 2023 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425834
19.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Genome Med
; 15(1): 94, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37946251
20.
The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.
J Endocr Soc
; 6(7): bvac079, 2022 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35668994