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Sylvie Mazoyer

University of Lyon
Claude Bernard University Lyon 1

88

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4897

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Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.

2021 Breast Cancer Research
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Gene and pathway level analyses of iCOGS variants highlight novel signalling pathways underlying familial breast cancer susceptibility

2021 International Journal of Cancer
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5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.

2021 Cancers
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Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.

2021 Human Mutation
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Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.

2020 PLOS ONE
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A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.

2020 Human Genomics
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New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients

2019 RNA
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Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

2019 International Journal of Cancer
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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

2018 Nucleic Acids Research
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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.

2018 Nucleic Acids Research
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