Detalhe da pesquisa
1.
Genetic heterogeneity and enrichment of variants in DNA-repair genes in ameloblastoma.
J Oral Pathol Med
; 52(3): 263-270, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36715450
2.
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Clin Chem
; 68(9): 1177-1183, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869940
3.
Altered subcellular localization of transcription factor TEAD4 regulates first mammalian cell lineage commitment.
Proc Natl Acad Sci U S A
; 109(19): 7362-7, 2012 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22529382
4.
Hepatocyte nuclear factor 4 alpha deletion promotes diethylnitrosamine-induced hepatocellular carcinoma in rodents.
Hepatology
; 57(6): 2480-90, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315968
5.
Using dried blood spots for variant analysis for patients with haemophilia.
Haemophilia
; 25(5): e339-e341, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31361374
6.
POLR3A variants in hereditary spastic paraplegia and ataxia.
Brain
; 141(1): e1, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228109
7.
Evaluation of Hi-C sequencing for the detection of gene fusions in hematologic and solid pediatric cancer samples.
medRxiv
; 2024 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38765974
8.
Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads.
medRxiv
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585974
9.
RNA-sequencing quantification of hepatic ontogeny and tissue distribution of mRNAs of phase II enzymes in mice.
Drug Metab Dispos
; 41(4): 844-57, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23382457
10.
RNA-sequencing quantification of hepatic ontogeny of phase-I enzymes in mice.
Drug Metab Dispos
; 41(12): 2175-86, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24080161
11.
Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours.
Cancer Genet
; 274-275: 10-20, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917897
12.
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Nat Commun
; 14(1): 3090, 2023 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37248219
13.
RNA sequencing reveals dynamic changes of mRNA abundance of cytochromes P450 and their alternative transcripts during mouse liver development.
Drug Metab Dispos
; 40(6): 1198-209, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22434873
14.
Curated variation benchmarks for challenging medically relevant autosomal genes.
Nat Biotechnol
; 40(5): 672-680, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132260
15.
Benchmarking challenging small variants with linked and long reads.
Cell Genom
; 2(5)2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36452119
16.
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing.
J Mol Diagn
; 23(5): 651-657, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631350
17.
A diploid assembly-based benchmark for variants in the major histocompatibility complex.
Nat Commun
; 11(1): 4794, 2020 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32963235
18.
Decitabine and Vorinostat with Chemotherapy in Relapsed Pediatric Acute Lymphoblastic Leukemia: A TACL Pilot Study.
Clin Cancer Res
; 26(10): 2297-2307, 2020 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31969338
19.
Clinical detection of deletion structural variants in whole-genome sequences.
NPJ Genom Med
; 1: 16026, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-29263817
20.
Deciphering the Developmental Dynamics of the Mouse Liver Transcriptome.
PLoS One
; 10(10): e0141220, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26496202