Beryl Royer-Bertrand

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 4

Top Topics

Transcription Factor

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Molecular autism

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

Publications

Beryl Royer-Bertrand, Sebastien Lebon, Ailsa Craig, Johanna Maeder, Laureane Mittaz-Crettol, Heidi Fodstad, Andrea Superti-Furga, Jean-Marc Good
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother. American journal of medical genetics. Part A (2023)
Beryl Royer-Bertrand, Sebastien Lebon, Ailsa Craig, Johanna Maeder, Laureane Mittaz-Crettol, Heidi Fodstad, Andrea Superti-Furga, Jean-Marc Good
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother. American journal of medical genetics. Part A (2023)
Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill Anne Rosenfeld, Jennifer A Bassetti, Oana Moldovan, Emily O'Heir, Lindsay C Burrage, Jake Allen, Lisa T Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, null null, Nadia Chabane, Elaine H Zackai, Sebastien Lebon, Beth Keena, Elizabeth Joyce Bhoj, Muhammad Umair, Dong Li, Kirsten Ann Donald, Andrea Superti-Furga
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Molecular autism 12 (1) (2021)
Beryl Royer-Bertrand, Katarina Cisarova, Florence Niel Bütschi, Giovanni Foletti, Vincent Guinchat, Christel Tran, Andrea Superti-Furga, Jean-Marc Good
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures. American journal of medical genetics. Part A 185 (8) (2021)