Detalhe da pesquisa
1.
Live-born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series-Spanning 52 years of experience in a single center.
Am J Med Genet A;
194(2): 253-267, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37807876
2.
An Integrated Approach Including CRISPR/Cas9-Mediated Nanopore Sequencing, Mate Pair Sequencing, and Cytogenomic Methods to Characterize Complex Structural Rearrangements in Acute Myeloid Leukemia.
Biomedicines;
12(3)2024 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38540211
3.
Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas.
Genes (Basel);
14(6)2023 05 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37372318
4.
Lynch syndrome caused by a novel deletion of the promoter and exons 1-13 of MLH1 gene.
Cancer Genet;
262-263: 91-94, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35149321
5.
Utility of targeted next-generation sequencing assay to detect 1p/19q co-deletion in formalin-fixed paraffin-embedded glioma specimens.
Hum Pathol;
126: 63-76, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35561840
6.
Concomitance of a novel RMDN2-ALK fusion and an EML4-ALK fusion in a lung adenocarcinoma.
Cancer Genet;
258-259: 18-22, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34233240
7.
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens.
J Mol Diagn;
23(10): 1343-1358, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34358677
8.
Clinical Utility of Targeted Next-Generation Sequencing Assay to Detect Copy Number Variants Associated with Myelodysplastic Syndrome in Myeloid Malignancies.
J Mol Diagn;
23(4): 467-483, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33577993
9.
A comprehensive approach to evaluate genetic abnormalities in multiple myeloma using optical genome mapping.
Blood Cancer J;
14(1): 78, 2024 May 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38702349