Detalhe da pesquisa
1.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Am J Hum Genet
; 108(10): 1907-1923, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34597585
2.
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Brain
; 145(3): 1029-1037, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34983064
3.
Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.
Int J Mol Sci
; 24(14)2023 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511329
4.
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.
Hum Mutat
; 43(3): 316-327, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34882875
5.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
6.
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
Genet Med
; 24(11): 2308-2317, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36056923
7.
SpliceLauncher: a tool for detection, annotation and relative quantification of alternative junctions from RNAseq data.
Bioinformatics
; 36(5): 1634-1636, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31617569
8.
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
9.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(15): 7913-7923, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750258
10.
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
Mod Pathol
; 31(6): 974-983, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29410489
11.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 48(3): 1600-1601, 2020 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863589
12.
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
Hum Mol Genet
; 23(9): 2440-6, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334767
13.
Complete Penetrance and Absence of Intrafamilial Variability in a Large Family with Hereditary Leiomyomatosis and Renal Cell Carcinoma.
Dermatology
; 232(3): 293-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27161211
14.
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(21): 11656-11657, 2018 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30321405
15.
Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.
Genes (Basel)
; 12(12)2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946825
16.
Evidence of mosaicism in SPAST variant carriers in four French families.
Eur J Hum Genet
; 29(7): 1158-1163, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958741
17.
Response to systemic therapy in fumarate hydratase-deficient renal cell carcinoma.
Eur J Cancer
; 151: 106-114, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33975058
18.
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.
Hum Mutat
; 31(4): 369-79, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358582
19.
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Cancer Res
; 80(7): 1374-1386, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32046981
20.
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Cancer Res
; 80(17): 3593-3605, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641407