Publication & Citation Trends
Publications
0 total
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
Cited by 71
Semantic Scholar
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant OA
Cited by 29
Semantic Scholar
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12 OA
Cited by 27
Semantic Scholar
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System OA
Cited by 20
Semantic Scholar
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants OA
Cited by 37
Semantic Scholar
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort OA
Cited by 89
Semantic Scholar
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer OA
Cited by 368
Semantic Scholar
Research Topics
BRCA gene mutations in cancer
(21)
RNA and protein synthesis mechanisms
(12)
Genomic variations and chromosomal abnormalities
(12)
RNA Research and Splicing
(11)
Genomics and Rare Diseases
(11)
Affiliations
Délégation Paris 5
Cedars-Sinai Medical Center
Centre National de la Recherche Scientifique
Karolinska University Hospital
Inserm