Detalhe da pesquisa
1.
ctDNA predicts clinical T1a to pathological T3a upstaging after partial nephrectomy.
Cancer Sci
; 115(5): 1680-1687, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38475661
2.
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
3.
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
4.
Utility of Plasma Microbial Cell-Free DNA Whole-Genome Sequencing for Diagnosis of Invasive Aspergillosis in Patients With Hematologic Malignancy or COVID-19.
J Infect Dis
; 228(4): 444-452, 2023 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317030
5.
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
6.
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
7.
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
8.
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
9.
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
Hum Mol Genet
; 29(18): 2989-3002, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32744312
10.
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
Hum Genet
; 141(3-4): 915-927, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34519870
11.
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
12.
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
13.
Application of CRISPR/Cas9-based mutant enrichment technique to improve the clinical sensitivity of plasma EGFR testing in patients with non-small cell lung cancer.
Cancer Cell Int
; 22(1): 82, 2022 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35168603
14.
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
15.
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
16.
Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation.
Dis Colon Rectum
; 65(6): 793-803, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897210
17.
Effects of light wavelength exposure during in vitro blastocyst production on preimplantation development of mouse embryos.
Reprod Fertil Dev
; 34(16): 1052-1057, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36109872
18.
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
19.
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
20.
Glucose in a maturation medium with reduced NaCl improves oocyte maturation and embryonic development after somatic cell nuclear transfer and in vitro fertilization in pigs.
Zygote
; 29(4): 293-300, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33653431