Detalhe da pesquisa
1.
Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes.
Cancer Cell Int
; 24(1): 174, 2024 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38764048
2.
Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy.
Epilepsia
; 65(3): 766-778, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38073125
3.
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.
Hum Mol Genet
; 30(5): 331-342, 2021 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33517449
4.
Copy-number analysis by base-level normalization: An intuitive visualization tool for evaluating copy number variations.
Clin Genet
; 103(1): 35-44, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36152294
5.
Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing.
Cancer Cell Int
; 23(1): 106, 2023 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37248544
6.
The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.
Int J Mol Sci
; 24(4)2023 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36834714
7.
Real-world data on prognostic value of measurable residual disease assessment by fragment analysis or next-generation sequencing in multiple myeloma.
Br J Haematol
; 198(3): 503-514, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35505579
8.
Analytical and Clinical Validation of Cell-Free Circulating Tumor DNA Assay for the Estimation of Tumor Mutational Burden.
Clin Chem
; 68(12): 1519-1528, 2022 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36306340
9.
Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample.
Cancer Cell Int
; 22(1): 306, 2022 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36209207
10.
Applications of molecular barcode sequencing for the detection of low-frequency variants in circulating tumour DNA from hepatocellular carcinoma.
Liver Int
; 42(10): 2317-2326, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35776657
11.
Trajectory of genetic alterations associated with colistin resistance in Acinetobacter baumannii during an in-hospital outbreak of infection.
J Antimicrob Chemother
; 77(1): 69-73, 2021 12 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34609499
12.
Chimerism Assay Using Single Nucleotide Polymorphisms Adjacent and in Linkage-Disequilibrium Enables Sensitive Disease Relapse Monitoring after Hematopoietic Stem-Cell Transplantation.
Clin Chem
; 67(5): 781-787, 2021 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33582770
13.
Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome.
Epilepsia
; 62(7): 1656-1664, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34008866
14.
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Mol Vis
; 26: 26-35, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165824
15.
Detection of recurrent, rare, and novel gene fusions in patients with acute leukemia using next-generation sequencing approaches.
Hematol Oncol
; 38(1): 82-88, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31875988
16.
The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report.
BMC Med Genet
; 20(1): 57, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30935366
17.
PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans-Like Nystagmus.
J Neuroophthalmol
; 43(4): e316-e318, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35427297
18.
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
Mol Vis
; 23: 649-659, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28966547
19.
Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants.
Breast Cancer Res Treat
; 158(3): 433-40, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27383479
20.
Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.
J Med Genet
; 52(10): 706-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26044810