Detalhe da pesquisa
1.
A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.
bioRxiv
; 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38712026
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992506
3.
Molecular profiling of CNS tumors for the treatment and management of disease.
J Clin Neurosci
; 71: 311-315, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31859178
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754995