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European Journal of Human Genetics : EJHG|September 15, 2017
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancerGrégoire Davy, Antoine Rousselin, Nicolas Goardon, et al.
Annales D'Endocrinologie|July 7, 2014
p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?Cecile Nozières, Chang-Xian Zhang, Alexandre Buffet, et al.
Human Molecular Genetics|December 17, 2013
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomasLuis Jaime Castro-Vega, Alexandre Buffet, Aguirre A De Cubas, et al.
Brain Communications|June 30, 2025
Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of <i>HTT</i> associated with an early disease onset in <i>C9orf72</i> carriersMathieu Barbier, Thomas Gareau, Agnès Camuzat, et al.
Human Mutation|December 9, 2021
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type IMolka Sebai, David Tulasne, Sandrine M Caputo, et al.
Cancer Research|February 13, 2020
Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12Laëtitia Meulemans, Romy L S Mesman, Sandrine M Caputo, et al.
BMC Genomics|January 30, 2020
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variantsRaphaël Leman, Hélène Tubeuf, Sabine Raad, et al.
Oncotarget|May 1, 2018
Full in-frame exon 3 skipping of <i>BRCA2</i> confers high risk of breast and/or ovarian cancerSandrine M Caputo, Mélanie Léone, Francesca Damiola, et al.
Nucleic Acids Research|May 12, 2018
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortRaphaël Leman, Pascaline Gaildrat, Gérald Le Gac, et al.
Human Mutation|October 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingRaphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
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