Detalhe da pesquisa
1.
Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle.
Pharmacogenomics J
; 22(1): 75-81, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34741133
2.
A single QTL with large effect is associated with female functional virginity in an asexual parasitoid wasp.
Mol Ecol
; 30(9): 1979-1992, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33638236
3.
Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing.
Hum Mutat
; 38(3): 310-316, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28044414
4.
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Hum Mutat
; 38(7): 870-879, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28378423
5.
Coping with living in the soil: the genome of the parthenogenetic springtail Folsomia candida.
BMC Genomics
; 18(1): 493, 2017 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28659179
6.
Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation.
Hum Mutat
; 37(10): 1106-9, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27363592
7.
Complete genome sequence of the Clostridium difficile laboratory strain 630Δerm reveals differences from strain 630, including translocation of the mobile element CTn5.
BMC Genomics
; 16: 31, 2015 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25636331
8.
TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes.
Bioinformatics
; 30(12): 1651-9, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24532718
9.
A novel feed-forward loop between ARIH2 E3-ligase and PABPN1 regulates aging-associated muscle degeneration.
Am J Pathol
; 184(4): 1119-1131, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24486325
10.
The genomic landscape of the verrucomicrobial methanotroph Methylacidiphilum fumariolicum SolV.
BMC Genomics
; 15: 914, 2014 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25331649
11.
Aging as accelerated accumulation of somatic variants: whole-genome sequencing of centenarian and middle-aged monozygotic twin pairs.
Twin Res Hum Genet
; 16(6): 1026-32, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24182360
12.
Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.
Hum Mol Genet
; 19(11): 2191-207, 2010 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20207626
13.
Interspecies translation of disease networks increases robustness and predictive accuracy.
PLoS Comput Biol
; 7(11): e1002258, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072955
14.
Toward predicting CYP2D6-mediated variable drug response from CYP2D6 gene sequencing data.
Sci Transl Med
; 13(603)2021 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34290055
15.
Ex vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.
Thromb Haemost
; 120(11): 1569-1579, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803740
16.
What Is in Umbilicaria pustulata? A Metagenomic Approach to Reconstruct the Holo-Genome of a Lichen.
Genome Biol Evol
; 12(4): 309-324, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32163141
17.
Resolving the complete genome of Kuenenia stuttgartiensis from a membrane bioreactor enrichment using Single-Molecule Real-Time sequencing.
Sci Rep
; 8(1): 4580, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29545612
18.
Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing.
Genome Biol
; 19(1): 46, 2018 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29598823
19.
Gene Family Evolution Reflects Adaptation to Soil Environmental Stressors in the Genome of the Collembolan Orchesella cincta.
Genome Biol Evol
; 8(7): 2106-17, 2016 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27289101
20.
Decay of Sexual Trait Genes in an Asexual Parasitoid Wasp.
Genome Biol Evol
; 8(12): 3685-3695, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28172869