Sylvie Mazoyer

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 14

Top Venues

Proceedings of the National Academy of Sciences of the United States of America

Nucleic acids research

Clinical genetics

RNA (New York, N.Y.)

INSERM

This page only lists publications with an associated author ORCID identifier.

Affiliation History

INSERM Apr 01 1997

France

Research scientist :: CRNL U1028

Publications

Lucas W Gauthier, Morgane Gossez, Christophe Malcus, Sébastien Viel, Guillaume Monneret, Remy Bordonné, Linda Pons, Sara Cabet, Marion Delous, Sylvie Mazoyer, Audrey Putoux, Patrick Edery
B-cell immune deficiency in twin sisters expands the phenotype of MOPDI. Clinical genetics 106 (4) (2024)
Lucas W Gauthier, Morgane Gossez, Christophe Malcus, Sébastien Viel, Guillaume Monneret, Remy Bordonné, Linda Pons, Sara Cabet, Marion Delous, Sylvie Mazoyer, Audrey Putoux, Patrick Edery
B-cell immune deficiency in twin sisters expands the phenotype of MOPDI. Clinical genetics (2024)
Fatimat Almentina Ramos Shidi, Audric Cologne, Marion Delous, Alicia Besson, Audrey Putoux, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer, Rémy Bordonné
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex. Nucleic acids research 51 (2) (2023)
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish. Proceedings of the National Academy of Sciences of the United States of America 120 (9) (2023)
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish. Proceedings of the National Academy of Sciences of the United States of America 120 (9) (2023)
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish. Proceedings of the National Academy of Sciences of the United States of America 120 (9) (2023)
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish. Proceedings of the National Academy of Sciences of the United States of America 120 (9) (2023)
Fatimat Almentina Ramos Shidi, Audric Cologne, Marion Delous, Alicia Besson, Audrey Putoux, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer, Rémy Bordonné
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex. Nucleic acids research 51 (2) (2023)
Fatimat Almentina Ramos Shidi, Audric Cologne, Marion Delous, Alicia Besson, Audrey Putoux, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer, Rémy Bordonné
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex. Nucleic acids research 51 (2) (2023)
Fatimat Almentina Ramos Shidi, Audric Cologne, Marion Delous, Alicia Besson, Audrey Putoux, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer, Rémy Bordonné
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex. Nucleic acids research (2022)
Gorka Ruiz de Garibay, Ignacio Fernandez-Garcia, Sylvie Mazoyer, Flavia Leme de Calais, Pietro Ameri, Sangeetha Vijayakumar, Haydeliz Martinez-Ruiz, Francesca Damiola, Laure Barjhoux, Mads Thomassen, Lars V B Andersen, Carmen Herranz, Francesca Mateo, Luis Palomero, Roderic Espín, Antonio Gómez, Nadia García, Daniel Jimenez, Núria Bonifaci, Ana I Extremera, Julio Castaño, Angel Raya, Eduardo Eyras, Xose S Puente, Joan Brunet, Conxi Lázaro, null null, null null, Paolo Radice, Daniel R Barnes, Antonis C Antoniou, Amanda B Spurdle, Miguel de la Hoya, Diana Baralle, Mary Helen Barcellos-Hoff, Miguel Angel Pujana
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants. Human mutation 42 (11) (2021)
Christine Lonjou, Séverine Eon-Marchais, Thérèse Truong, Marie-Gabrielle Dondon, Mojgan Karimi, Yue Jiao, Francesca Damiola, Laure Barjhoux, Dorothée Le Gal, Juana Beauvallet, Noura Mebirouk, Eve Cavaciuti, Jean Chiesa, Anne Floquet, Séverine Audebert-Bellanger, Sophie Giraud, Thierry Frebourg, Jean-Marc Limacher, Laurence Gladieff, Isabelle Mortemousque, Hélène Dreyfus, Sophie Lejeune-Dumoulin, Christine Lasset, Laurence Venat Bouvet, Yves-Jean Bignon, Pascal Pujol, Christine M Maugard, Elisabeth Luporsi, Valérie Bonadona, Catherine Noguès, Pascaline Berthet, Capucine Delnatte, Paul Gesta, Alain Lortholary, Laurence Faivre, Bruno Buecher, Olivier Caron, Marion Gauthier-Villars, Isabelle Coupier, Sylvie Mazoyer, Luis-Cristobal Monraz, Maria Kondratova, Inna Kuperstein, Pascal Guénel, Emmanuel Barillot, Dominique Stoppat-Lyonnet, Nadine Andrieu, Fabienne Lesueur
Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility. International journal of cancer 148 (8) (2021)
Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Claire Benetollo, Clément Saccaro, Justine Guguin, Gabriel Sala, Audric Cologne, Marion Delous, Gaetan Lesca, Richard A Padgett, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene. PloS one 15 (7) (2020)
Audric Cologne, Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Amandine Campan-Fournier, Michael B Bober, Christine E M De Die-Smulders, Aimée D C Paulussen, Lucile Pinson, Annick Toutain, Chaim M Roifman, Anne-Louise Leutenegger, Sylvie Mazoyer, Patrick Edery, Vincent Lacroix
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients. RNA (New York, N.Y.) 25 (9) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Sylvie Mazoyer