Detalhe da pesquisa
1.
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Genet Med
; 25(3): 100348, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36571464
2.
High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.
Am J Med Genet A
; 191(6): 1518-1524, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36924216
3.
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.
Am J Hum Genet
; 105(4): 734-746, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585106
4.
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Genet Med
; 23(10): 1882-1888, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040190
5.
Acute graft-versus-host disease following lung transplantation in a patient with a novel TERT mutation.
Thorax
; 73(5): 489-492, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29382801
6.
Clinical Targeted Next-Generation Sequencing Shows Increased Mutational Load in Endometrioid-type Endometrial Adenocarcinoma With Deficient DNA Mismatch Repair.
Int J Gynecol Pathol
; 37(6): 581-589, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29084048
7.
Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.
Mod Pathol
; 30(12): 1739-1747, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28752844
8.
Prenatal Allospecific NK Cell Tolerance Hinges on Instructive Allorecognition through the Activating Receptor during Development.
J Immunol
; 195(4): 1506-16, 2015 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26136432
9.
Prenatal Allogeneic Tolerance in Mice Remains Stable Despite Potent Viral Immune Activation.
J Immunol
; 195(8): 4001-9, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26363051
10.
Perforin plays an unexpected role in regulating T-cell contraction during prolonged Listeria monocytogenes infection.
Eur J Immunol
; 42(3): 629-40, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22161269
11.
Multivariate analysis of associations between clinical sequencing and outcome in glioblastoma.
Neurooncol Adv
; 4(1): vdac002, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35156038
12.
Glycosylation contributes to variability in expression of murine cytomegalovirus m157 and enhances stability of interaction with the NK-cell receptor Ly49H.
Eur J Immunol
; 40(9): 2618-31, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20662096
13.
Concurrent MPL W515L and Y591D mutations in a patient with myelofibrosis.
Blood Cells Mol Dis
; 60: 1-2, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519934
14.
A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broader Clinicopathologic Spectrum of Disease.
J Mol Diagn
; 23(2): 200-211, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217554
15.
Identification of challenges and a framework for implementation of the AMP/ASCO/CAP classification guidelines for reporting somatic variants.
Pract Lab Med
; 21: e00170, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32548229
16.
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Kidney360
; 1(8): 772-780, 2020 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35372954
17.
Optimization of Population Frequency Cutoffs for Filtering Common Germline Polymorphisms from Tumor-Only Next-Generation Sequencing Data.
J Mol Diagn
; 21(5): 903-912, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31251990
18.
Beyond sequence variation: assessment of copy number variation in adult glioblastoma through targeted tumor somatic profiling.
Hum Pathol
; 86: 170-181, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30594748
19.
Natural Killer Cell Recruitment to the Lung During Influenza A Virus Infection Is Dependent on CXCR3, CCR5, and Virus Exposure Dose.
Front Immunol
; 9: 781, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29719539
20.
Targeted Next-Generation Sequencing in Molecular Subtyping of Lower-Grade Diffuse Gliomas: Application of the World Health Organization's 2016 Revised Criteria for Central Nervous System Tumors.
J Mol Diagn
; 19(2): 328-337, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28042970