Detalhe da pesquisa
1.
Expanding the repertoire reveals recurrent, cryptic, and hematopoietic HLA class I minor histocompatibility antigens.
Blood
; 143(18): 1856-1872, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427583
2.
SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.
BMC Genomics
; 24(1): 305, 2023 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37280537
3.
A powerful global test for spliceQTL effects.
Biom J
; 65(1): e2100123, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35818126
4.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Hum Mutat
; 43(6): 717-733, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35178824
5.
Metabolomic predictors of phenotypic traits can replace and complement measured clinical variables in population-scale expression profiling studies.
BMC Genomics
; 23(1): 546, 2022 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907790
6.
Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood.
BMC Med
; 20(1): 395, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36352383
7.
Benchmarking deep learning splice prediction tools using functional splice assays.
Hum Mutat
; 42(7): 799-810, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942434
8.
Personalized Proteome: Comparing Proteogenomics and Open Variant Search Approaches for Single Amino Acid Variant Detection.
J Proteome Res
; 20(6): 3353-3364, 2021 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33998808
9.
De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data.
J Biomed Inform
; 122: 103897, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34454078
10.
Computational approaches for the analysis of RNA-protein interactions: A primer for biologists.
J Biol Chem
; 294(1): 1-9, 2019 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30455357
11.
RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting.
BMC Biol
; 17(1): 50, 2019 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31234833
12.
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.
Hum Mutat
; 40(10): 1797-1812, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231902
13.
The distinct transcriptomes of slow and fast adult muscles are delineated by noncoding RNAs.
FASEB J
; 32(3): 1579-1590, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29141996
14.
Transcriptome and genome sequencing uncovers functional variation in humans.
Nature
; 501(7468): 506-11, 2013 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24037378
15.
Cyclic Peptides to Improve Delivery and Exon Skipping of Antisense Oligonucleotides in a Mouse Model for Duchenne Muscular Dystrophy.
Mol Ther
; 26(1): 132-147, 2018 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29103911
16.
Immune stimuli shape the small non-coding transcriptome of extracellular vesicles released by dendritic cells.
Cell Mol Life Sci
; 75(20): 3857-3875, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29808415
17.
A SNP panel for identification of DNA and RNA specimens.
BMC Genomics
; 19(1): 90, 2018 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29370748
18.
Alternative mRNA transcription, processing, and translation: insights from RNA sequencing.
Trends Genet
; 31(3): 128-39, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25648499
19.
Meta-analysis of polycystic kidney disease expression profiles defines strong involvement of injury repair processes.
Am J Physiol Renal Physiol
; 312(4): F806-F817, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28148532
20.
SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing.
Nucleic Acids Res
; 43(12): e80, 2015 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25800735