Detalhe da pesquisa
1.
A comparative benchmark of classic DNA motif discovery tools on synthetic data.
Brief Bioinform
; 22(6)2021 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34351399
2.
MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits.
Nucleic Acids Res
; 49(D1): D1282-D1288, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300029
3.
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants.
Hum Mutat
; 43(9): 1201-1215, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35583122
4.
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.
J Med Genet
; 58(11): 783-788, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32938693
5.
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
PLoS Genet
; 15(3): e1008075, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30917130
6.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Clin Genet
; 100(3): 268-279, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988253
7.
Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy.
Ann Noninvasive Electrocardiol
; 26(4): e12813, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33151022
8.
A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.
Int J Mol Sci
; 22(15)2021 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360843
9.
Dissecting molecular mechanisms of resistance to NOTCH1-targeted therapy in T-cell acute lymphoblastic leukemia xenografts.
Haematologica
; 105(5): 1317-1328, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31467126
10.
Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.
Ann Noninvasive Electrocardiol
; 25(3): e12687, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31524317
11.
A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System-A Close Look at Chromosome 15.
Int J Mol Sci
; 21(5)2020 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32182809
12.
Sodium-glucose cotransporter-2 inhibitors: A potential novel treatment for Lafora disease?
Pharmacol Res
; 199: 107012, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38036198
13.
Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete.
J Electrocardiol
; 53: 95-99, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30716529
14.
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Hum Mutat
; 39(12): 1885-1900, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30161288
15.
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.
Am J Hum Genet
; 97(1): 177-85, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26073777
16.
New clinical features in an adult patient with Skraban-Deardorff syndrome.
Am J Med Genet A
; 191(1): 306-309, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36269129
17.
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
Am J Med Genet A
; 176(2): 391-398, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193617
18.
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE.
PLoS Comput Biol
; 13(6): e1005628, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640805
19.
Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer.
Nucleic Acids Res
; 44(9): 4025-36, 2016 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27067546
20.
Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role.
J Electrocardiol
; 51(5): 809-813, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30177317