Sylvie Mazoyer
8PUBLICATIONS
46CO-AUTHORS
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Publications (8)
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|Dec 16, 2024
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.Justine Guguin, Ting-Yu Chen, Silvestre Cuinat
|Jun 05, 2024
B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.Lucas W Gauthier, Morgane Gossez, Christophe Malcus
|Feb 21, 2023
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.Deepak Khatri, Audrey Putoux, Audric Cologne
|Dec 20, 2022
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.Fatimat Almentina Ramos Shidi, Audric Cologne, Marion Delous
|Aug 22, 2021
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.Gorka Ruiz de Garibay, Ignacio Fernandez-Garcia, Sylvie Mazoyer
|Dec 28, 2020
Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.Christine Lonjou, Séverine Eon-Marchais, Thérèse Truong
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Frequent Collaborators
4 joint publications
Patrick Edery
3 joint publications
Marion Delous
2 joint publications
Audric Cologne
2 joint publications
Clara Benoit-Pilven
2 joint publications
Justine Guguin
2 joint publications
Rémy Bordonné
2 joint publications
Virginie Hamel
2 joint publications
Alicia Besson
2 joint publications
Anne-Louise Leutenegger
2 joint publications
Vincent Lacroix
