Detalhe da pesquisa
1.
Anchored multiplex PCR for targeted next-generation sequencing reveals recurrent and novel USP6 fusions and upregulation of USP6 expression in aneurysmal bone cyst.
Genes Chromosomes Cancer
; 56(4): 266-277, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27910166
2.
Simultaneously Detection of 50 Mutations at 20 Sites in the BRAF and RAS Genes by Multiplexed Single-Nucleotide Primer Extension Assay Using Fine-Needle Aspirates of Thyroid Nodules.
Yale J Biol Med
; 88(4): 351-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26604858
3.
Identification of KIT activating mutations in paediatric solitary mastocytoma.
Histopathology
; 64(2): 218-25, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24128084
4.
A simple and cost-effective method of DNA extraction from small formalin-fixed paraffin-embedded tissue for molecular oncologic testing.
BMC Clin Pathol
; 14: 30, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25067909
5.
DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose.
Sci Adv
; 9(7): eabq7744, 2023 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36800423
6.
Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.
J Mol Diagn
; 23(11): 1506-1514, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34384893
7.
Simultaneous detection of single-nucleotide variant, deletion/insertion, and fusion in lung and thyroid carcinoma using cytology specimen and an RNA-based next-generation sequencing assay.
Cancer Cytopathol
; 126(3): 158-169, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29364576
8.
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Skelet Muscle
; 8(1): 17, 2018 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29855340
9.
The NAB2-STAT6 gene fusion in solitary fibrous tumor can be reliably detected by anchored multiplexed PCR for targeted next-generation sequencing.
Cancer Genet
; 209(7-8): 303-12, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27292373
10.
Multiplatform comparison of molecular oncology tests performed on cytology specimens and formalin-fixed, paraffin-embedded tissue.
Cancer Cytopathol
; 123(1): 30-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25186473