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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approachAmerican Journal of Human Genetics, 2021, 108 (10), pp.1907-1923. ⟨10.1016/j.ajhg.2021.09.003⟩
Journal articles
hal-03375857v1
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A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1PLoS Genetics, 2016, 12 (2), pp.e1005888. ⟨10.1371/journal.pgen.1005888⟩
Journal articles
hal-01286009v1
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A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expressionNature Communications, 2021, 12 (1), pp.1-20. ⟨10.1038/s41467-021-25792-0⟩
Journal articles
hal-03374490v1
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Mosaicism and prenatal diagnosis options: insights from retinoblastomaEuropean Journal of Human Genetics, 2017, 25 (3), pp.381-383. ⟨10.1038/ejhg.2016.174⟩
Journal articles
pasteur-03105162v1
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