Publications
2022
Article in a journal
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models
- Hamid Meziane
- Marie-Christine Birling
- Olivia Wendling
- Sophie Leblanc
- Aline Dubos
- Mohammed Selloum
- Guillaume Pavlovic
- Tania Sorg
- Vera M. Kalscheuer
- Pierre Billuart
- Frédéric Laumonnier
- Jamel Chelly
- Hans van Bokhoven
- Yann Hérault
Biomedicines ; Volume: 10
Article in a journal
The E-cadherin-ESR1-GRPR axis defines a sex-specific metastatic pathway in melanoma
- Jérémy Raymond
- Marie Pouteaux
- Valérie Petit
- Zackie Aktary
- Flavie Luciani
- Maria Wehbe
- Patrick Gizzi
- Claire Bourban
- Igor Martianov
- Irwin Davidson
- Catherine-Laure Tomasetto
- Florence-Mahuteau Betzer
- Béatrice Vergier
- Lionel Larue
- Véronique Delmas
BioRxiv
Article in a journal
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes
- Kendall Higgins
- Bret A. Moore
- Zorana Berberovic
- Hibret A. Adissu
- Mohammad Eskandarian
- Ann M. Flenniken
- Andy Shao
- Denise M. Imai
- Dave Clary
- Louise Lanoue
- Susan Newbigging
- Lauryl M. J. Nutter
- David J. Adams
- Fatima Bosch
- Robert E. Braun
- Steve D. M. Brown
- Mary E. Dickinson
- Michael Dobbie
- Paul Flicek
- Xiang Gao
- ...
Scientific Reports ; Volume: 12
Article in a journal
Ts66Yah, a mouse model of Down syndrome with improved construct and face validity
- Arnaud Duchon
- Maria del Mar Muñiz Moreno
- Claire Chevalier
- Valérie Nalesso
- Philippe Andre
- Marta Fructuoso-Castellar
- Mary Mondino
- Chrystelle Po
- Vincent Noblet
- Marie-Christine Birling
- Marie-Claude Potier
- Yann Herault
Disease Models & Mechanisms ; Volume: 15 ; Page: dmm049721
Article in a journal
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy
- Arnaud Jacquier
- Julian Theuriet
- Fanny Fontaine
- Valentine Mosbach
- Nicolas Lacoste
- Shams Ribault
- Valérie Risson
- Julien Carras
- Laurent Coudert
- Thomas Simonet
- Philippe Latour
- Tanya Stojkovic
- Juliette Piard
- Anne Cosson
- Gaëtan Lesca
- Françoise Bouhour
- Stéphane Allouche
- Hélène Puccio
- Antoine Pegat
- Laurent Schaeffer
Brain - A Journal of Neurology
Article in a journal
HR-Bac, a toolbox based on homologous recombination for expression, screening and production of multiprotein complexes using the baculovirus expression system
- Olga Kolesnikova
- Amélie Zachayus
- Simon Pichard
- Judit Osz
- Natacha Rochel
- Paola Rossolillo
- Isabelle Kolb-Cheynel
- Nathalie Troffer-Charlier
- Emmanuel Compe
- Olivier Bensaude
- Imre Berger
- Arnaud Poterszman
Scientific Reports ; Volume: 12 ; Page: 2030
Article in a journal
Mutation update for the ACTN2 gene
- Johanna Ranta-Aho
- Montse Olive
- Marie Vandroux
- Giorgia Roticiani
- Cristina Dominguez
- Mridul Johari
- Annalaura Torella
- Johann Böhm
- Janina Turon
- Vincenzo Nigro
- Peter Hackman
- Jocelyn Laporte
- Bjarne Udd
- Marco Savarese
Human Mutation ; Volume: 43 ; Page: 1745-1756
Article in a journal
Thiol sensing: From current methods to nanoscale contribution
- Margaux Berthou
- Igor Clarot
- Jeremie Gouyon
- Damien Steyer
- Marie Anais Monat
- Ariane Boudier
- Arnaud Pallotta
Microchemical Journal ; Volume: 183 ; Page: 107994
Article in a journal
Further delineation of KIF21B-related neurodevelopmental disorders
- Dhanya Lakshmi Narayanan
- Jose Rivera Alvarez
- Peggy Tilly
- Michelle C. Do Rosario
- Vivekananda Bhat
- Juliette Godin
- Anju Shukla
Journal of Human Genetics ; Volume: 67 ; Page: 729-733
Article in a journal
Reply to: "GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype
- Thomas Wirth
- Giacomo Garone
- Manju A. Kurian
- Amélie Piton
- Emmanuel Roze
- Jean Pierre Lin
- Christine Tranchant
- Laura Cif
- Diane Doummar
- Mathieu Anheim
Movement Disorders ; Volume: 37 ; Page: 2466-2467