Detalhe da pesquisa
1.
A Pan-cancer Transcriptome Analysis Reveals Pervasive Regulation through Alternative Promoters.
Cell
; 178(6): 1465-1477.e17, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491388
2.
Genomic basis for RNA alterations in cancer.
Nature
; 578(7793): 129-136, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32025019
3.
Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.
PLoS Genet
; 18(4): e1010068, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35363781
4.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
EMBO J
; 39(23): e105364, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128823
5.
Author Correction: Genomic basis for RNA alterations in cancer.
Nature
; 614(7948): E37, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36697831
6.
Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues.
Nucleic Acids Res
; 49(22): 12757-12768, 2021 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34850165
7.
HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor.
Nucleic Acids Res
; 45(D1): D698-D706, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899581
8.
A new score which includes ultrasound-assessed tongue thickness to predict difficult intubation in morbidly obese patients: A prospective observational cohort study.
Eur J Anaesthesiol
; 39(4): 388-390, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35232935
9.
A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest.
Hum Genet
; 135(1): 121-36, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26621530
10.
MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing.
Bioinformatics
; 30(21): 3115-7, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25028726
11.
Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data.
BMC Genomics
; 15 Suppl 3: S2, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25077682
12.
Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.
Hum Mol Genet
; 21(17): 3753-64, 2012 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22589247
13.
HmtDB, a genomic resource for mitochondrion-based human variability studies.
Nucleic Acids Res
; 40(Database issue): D1150-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22139932
14.
Obesity Surgery Mortality Risk Score as a Predictor for Intensive Care Unit Admission in Patients Undergoing Laparoscopic Bariatric Surgery.
J Clin Med
; 13(8)2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673525
15.
A platform independent RNA-Seq protocol for the detection of transcriptome complexity.
BMC Genomics
; 14: 855, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24308330
16.
An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.
Nat Genet
; 53(7): 982-993, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34002094
17.
Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission.
Sci Adv
; 7(50): eabi5657, 2021 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34878831
18.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
BMJ
; 375: e066288, 2021 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34732400
19.
Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases.
Nat Med
; 27(9): 1564-1575, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34426706
20.
Defining needs and goals of post-ICU care for trauma patients: preliminary study.
Minerva Anestesiol
; 82(1): 22-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25875924