Detalhe da pesquisa
1.
Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.
Nature
; 555(7696): 371-376, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29489755
2.
Inherited cancer predisposing mutations in patients with therapy-related myeloid neoplasms.
Br J Haematol
; 200(4): 489-493, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36349721
3.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Hum Mutat
; 42(3): 223-236, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300245
4.
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.
Hum Mol Genet
; 28(10): 1620-1628, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30608580
5.
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Hum Mutat
; 41(7): 1263-1279, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196822
6.
C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma.
Nature
; 506(7489): 451-5, 2014 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24553141
7.
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Hum Mutat
; 39(11): 1581-1592, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311380
8.
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 20(9): 1099-1102, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388939
9.
Novel mutations target distinct subgroups of medulloblastoma.
Nature
; 488(7409): 43-8, 2012 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22722829
10.
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia.
Nature
; 481(7380): 157-63, 2012 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237106
11.
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 19(2): 224-235, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27513193
12.
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Ann Neurol
; 80(4)2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27543892
13.
PAX5 is a tumor suppressor in mouse mutagenesis models of acute lymphoblastic leukemia.
Blood
; 125(23): 3609-17, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25855603
14.
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
BMC Med Genet
; 16: 102, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26542245
15.
Real-world Evidence of Diagnostic Testing and Treatment Patterns in US Patients With Breast Cancer With Implications for Treatment Biomarkers From RNA Sequencing Data.
Clin Breast Cancer
; 21(4): e340-e361, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33446413
16.
Sequence fingerprint and structural analysis of the SCOR enzyme A3DFK9 from Clostridium thermocellum.
Proteins
; 78(3): 603-13, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19774618
17.
Tumor Mutational Burden From Tumor-Only Sequencing Compared With Germline Subtraction From Paired Tumor and Normal Specimens.
JAMA Netw Open
; 3(2): e200202, 2020 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32108894
18.
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
JAMA Oncol
; 5(1): 51-57, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30128536
19.
Integrated genomic profiling expands clinical options for patients with cancer.
Nat Biotechnol
; 37(11): 1351-1360, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570899
20.
Clinical validation of the tempus xT next-generation targeted oncology sequencing assay.
Oncotarget
; 10(24): 2384-2396, 2019 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31040929