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1.
Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.
Hum Mutat
; 40(11): 2044-2056, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31237724
2.
RNA-Seq for the detection of gene fusions in solid tumors: development and validation of the JAX FusionSeq™ 2.0 assay.
J Mol Med (Berl)
; 100(2): 323-335, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35013752
3.
Molecular profiling of gynecologic cancers for treatment and management of disease - demonstrating clinical significance using the AMP/ASCO/CAP guidelines for interpretation and reporting of somatic variants.
Cancer Genet
; 242: 25-34, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31992506
4.
Molecular profiling of CNS tumors for the treatment and management of disease.
J Clin Neurosci
; 71: 311-315, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31859178
5.
Mutation Yield of a Custom 212-Gene Next-Generation Sequencing Panel for Solid Tumors: Clinical Experience of the First 260 Cases Tested Using the JAX ActionSeq™ Assay.
Mol Diagn Ther
; 24(1): 103-111, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31754995
6.
Evaluating gene fusions in solid tumors - Clinical experience using an RNA based 53 gene next-generation sequencing panel.
Cancer Genet
; 233-234: 32-42, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31109592
7.
Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitorTM Assay.
Biomark Insights
; 14: 1177271919826545, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30745794
8.
Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.
Epilepsy Res
; 144: 53-61, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29778030
9.
Genomic Profiling of Two Histologically Distinct Rare Urothelial Cancers in a Clinical Setting to Identify Potential Therapeutic Options for Treatment and Management of Disease.
Case Rep Oncol
; 11(1): 196-205, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29681821
10.
Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel.
J Genet
; 96(4): 681-685, 2017 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-28947717
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