Detalhe da pesquisa
1.
Is it time to reassess variant annotation?
Trends Genet
; 38(6): 521-523, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35232614
2.
How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease.
J Biol Chem
; 299(2): 102839, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36581210
3.
Pharmacogenetics of weight gain following switch from efavirenz- to integrase inhibitor-containing regimens.
Pharmacogenet Genomics
; 34(2): 25-32, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37910437
4.
Alternative Applications of Genotyping Array Data Using Multivariant Methods.
Trends Genet
; 36(11): 857-867, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32773169
5.
Cancer-specific expression quantitative loci are affected by expression dysregulation.
Brief Bioinform
; 21(1): 338-347, 2020 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30475999
6.
EditPredict: Prediction of RNA editable sites with convolutional neural network.
Genomics
; 113(6): 3864-3871, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34562567
7.
Non-canonical RNA-DNA differences and other human genomic features are enriched within very short tandem repeats.
PLoS Comput Biol
; 16(6): e1007968, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32511223
8.
Power and sample size calculations for high-throughput sequencing-based experiments.
Brief Bioinform
; 19(6): 1247-1255, 2018 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28605403
9.
Strategies for processing and quality control of Illumina genotyping arrays.
Brief Bioinform
; 19(5): 765-775, 2018 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334151
10.
Quality and concordance of genotyping array data of 12,064 samples from 5840 cancer patients.
Genomics
; 111(4): 950-957, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29902512
11.
Reply to Record et al. "The role of PMP22 T118M in Charcot-Marie-Tooth disease remains unsolved".
J Biol Chem
; 299(10): 105181, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37716137
12.
Architectures and accuracy of artificial neural network for disease classification from omics data.
BMC Genomics
; 20(1): 167, 2019 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30832569
13.
Mitochondrial DNA Haplogroups and Delirium During Sepsis.
Crit Care Med
; 47(8): 1065-1071, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31306254
14.
OSBPL10, RXRA and lipid metabolism confer African-ancestry protection against dengue haemorrhagic fever in admixed Cubans.
PLoS Pathog
; 13(2): e1006220, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28241052
15.
The Role of Mitochondrial DNA Variation in Age-Related Decline in Gait Speed Among Older Men Living With Human Immunodeficiency Virus.
Clin Infect Dis
; 67(5): 778-784, 2018 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29481608
16.
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Hum Mol Genet
; 25(5): 1031-41, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26740552
17.
Mitochondria sequence mapping strategies and practicability of mitochondria variant detection from exome and RNA sequencing data.
Brief Bioinform
; 17(2): 224-32, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26249222
18.
StrandScript: evaluation of Illumina genotyping array design and strand correction.
Bioinformatics
; 33(15): 2399-2401, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28402386
19.
Mutation-specific effects in germline transmission of pathogenic mtDNA variants.
Hum Reprod
; 33(7): 1331-1341, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29850888
20.
Tri-allelic heteroplasmies, DNA-RNA differences and their polynucleotide tract associations in the mitochondrial genome.
Genomics
; 2017 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-28970049