Sophie Kaltenbach

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 2

Top Topics

Intellectual Disability

Systematic Review

Top Venues

American journal of medical genetics. Part A

The Journal of experimental medicine

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

Publications

Charles Bayard, Eleonora Segna, Maxime Taverne, Antoine Fraissenon, Quentin Hennocq, Baptiste Periou, Lola Zerbib, Sophia Ladraa, Célia Chapelle, Clément Hoguin, Sophie Kaltenbach, Patrick Villarese, Vahid Asnafi, Christine Broissand, Ivan Nemazanyy, Gwennhael Autret, Nicolas Goudin, Christophe M Legendre, François Jérôme Authier, Thomas Viel, Bertrand Tavitian, Cyril Gitiaux, Sylvie Fraitag, Jean-Paul Duong Van Huyen, Clarisse Delcros, Bernard Sergent, Arnaud Picard, Michael Dussiot, Laurent Guibaud, Roman Hossein Khonsari, Guillaume Canaud
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition. The Journal of experimental medicine 220 (11) (2023)
Ahmed El Mouatani, Geraldine van Winckel, Khaoula Zaafrane-Khachnaoui, Sandra Whalen, Amale Achaiaa, Sophie Kaltenbach, Andrea Superti-Furga, Michel Vekemans, Heidi Fodstad, Fabienne Giuliano, Tania Attie-Bitach
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly. American journal of medical genetics. Part A 185 (12) (2021)