Detalhe da pesquisa
1.
Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity.
BMC Genomics
; 25(1): 122, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38287261
2.
Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.
Am J Med Genet A
; : e63788, 2024 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38864234
3.
EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors.
Genes Chromosomes Cancer
; 62(1): 17-26, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35801295
4.
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review.
Genes Chromosomes Cancer
; 62(1): 39-46, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716171
5.
Detection of brain somatic variation in epilepsy-associated developmental lesions.
Epilepsia
; 63(8): 1981-1997, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35687047
6.
Novel morphologic findings in PLAG1-rearranged soft tissue tumors.
Genes Chromosomes Cancer
; 60(8): 577-585, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33893698
7.
Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence.
Genes Chromosomes Cancer
; 60(9): 640-646, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041825
8.
Discovery of clinically relevant fusions in pediatric cancer.
BMC Genomics
; 22(1): 872, 2021 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863095
9.
Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion.
J Natl Compr Canc Netw
; 19(10): 1116-1121, 2021 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34666310
10.
CD163L1+CXCL10+ Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients.
J Surg Res
; 267: 527-535, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34256195
11.
COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon.
J Surg Res
; 267: 397-403, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34225052
12.
Multifocal Versus Conventional Unifocal Diverticulitis: A Comparison of Clinical and Transcriptomic Characteristics.
Dig Dis Sci
; 64(11): 3143-3151, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30511196
13.
RNA-seq implicates deregulation of the immune system in the pathogenesis of diverticulitis.
Am J Physiol Gastrointest Liver Physiol
; 313(3): G277-G284, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28619727
14.
Development of a total colectomy and ileorectal anastomosis rat model to evaluate colonic metaplasia.
J Surg Res
; 218: 217-225, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28985852
15.
De novo primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) NFIA/CBFA2T3 translocation.
Haematologica
; 105(4): e194-e197, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949013
16.
A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition.
Neurooncol Adv
; 6(1): vdad163, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38213835
17.
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Mol Genet Genomic Med
; 12(3): e2349, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263869
18.
CHEK2 Alterations in Pediatric Malignancy: A Single-Institution Experience.
Cancers (Basel)
; 15(6)2023 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980535
19.
Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements.
Cancers (Basel)
; 15(17)2023 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37686670
20.
Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature.
Case Rep Dermatol Med
; 2022: 8076649, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35154835