Detalhe da pesquisa
1.
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Genet Med
; 24(6): 1316-1327, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35311657
2.
Blood functional assay for rapid clinical interpretation of germline TP53 variants.
J Med Genet
; 58(12): 796-805, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051313
3.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992191
4.
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.
Hum Mol Genet
; 26(14): 2591-2602, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369373
5.
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.
Hum Mol Genet
; 26(14): 2812, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28472496
6.
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.
Eur J Hum Genet
; 26(11): 1597-1602, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967336
7.
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
Clin Chim Acta
; 481: 1-8, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29476731