Detalhe da pesquisa
1.
Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
Am J Hum Genet
; 110(6): 979-988, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37141891
2.
Genetic and transcriptional evolution alters cancer cell line drug response.
Nature
; 560(7718): 325-330, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30089904
3.
Loss of heterozygosity does not occur in BRCA1/2 mutant pediatric solid and central nervous system tumors.
Pediatr Blood Cancer
; 70(11): e30643, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37596911
4.
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex.
J Med Genet
; 59(9): 920-923, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34635572
5.
Implementation of a prostate cancer-specific targeted sequencing panel for credentialing of patient-derived cell lines and genomic characterization of patient samples.
Prostate
; 82(5): 584-597, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35084050
6.
Adverse prognostic impact of the loss of STAG2 protein expression in patients with newly diagnosed localised Ewing sarcoma: A report from the Children's Oncology Group.
Br J Cancer
; 127(12): 2220-2226, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221002
7.
Genomic analyses of PMBL reveal new drivers and mechanisms of sensitivity to PD-1 blockade.
Blood
; 134(26): 2369-2382, 2019 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31697821
8.
Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma.
Genet Med
; 22(8): 1366-1373, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32341571
9.
Correction: Detection of circulating tumour DNA is associated with inferior outcomes in Ewing sarcoma and osteosarcoma: a report from the Children's Oncology Group.
Br J Cancer
; 120(8): 869, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30880335
10.
Detection of Mutations in Barrett's Esophagus Before Progression to High-Grade Dysplasia or Adenocarcinoma.
Gastroenterology
; 155(1): 156-167, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29608884
11.
Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Genet Med
; 21(11): 2639-2643, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160751
12.
Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.
Genet Med
; 21(1): 213-223, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961768
13.
Unique, dual-indexed sequencing adapters with UMIs effectively eliminate index cross-talk and significantly improve sensitivity of massively parallel sequencing.
BMC Genomics
; 19(1): 30, 2018 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29310587
14.
Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion-negative rhabdomyosarcoma: A report from the Children's Oncology Group.
Cancer
; 124(9): 1973-1981, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29461635
15.
Detection of circulating tumour DNA is associated with inferior outcomes in Ewing sarcoma and osteosarcoma: a report from the Children's Oncology Group.
Br J Cancer
; 119(5): 615-621, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30131550
16.
Diffuse large B-cell lymphoma patient-derived xenograft models capture the molecular and biological heterogeneity of the disease.
Blood
; 127(18): 2203-13, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26773040
17.
Targetable genetic features of primary testicular and primary central nervous system lymphomas.
Blood
; 127(7): 869-81, 2016 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26702065
18.
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
PLoS Genet
; 11(11): e1005637, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26540169
19.
BreaKmer: detection of structural variation in targeted massively parallel sequencing data using kmers.
Nucleic Acids Res
; 43(3): e19, 2015 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25428359
20.
Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Genet Med
; 23(10): 2022, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33353975