Scientific publications
Publications
-
2019
-
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
- Martin Krahn
- Valérie Biancalana
- Mathieu Cerino
- Aurélien Perrin
- Laurence Michel-Calemard
- Juliette Nectoux
- France Leturcq
- Céline Bouchet-Séraphin
- Cécile Acquaviva-Bourdain
- Emmanuelle Campana-Salort
- Annamaria Molon
- Jon Andoni Urtizberea
- Frédérique Audic
- Brigitte Chabrol
- Jean Pouget
- Roseline Froissart
- Judith Melki
- John Rendu
- François Petit
- Corinne Metay
- ...
European Journal of Human Genetics ; Volume: 27 ; Page: 349-352
-
In situ mapping of the reactivity of chemical sensitizers in reconstructed human epidermis using high-resolution magic angle spinning (HRMAS) NMR technique. SOT 58th Annual Meeting (Society of Toxicology), Baltimore, États-Unis
- Hassanl Srour
- Francois-Marie Moussallieh
- Karim El Bayed
- Elena Giménez-Arnau
- Martina Klaric
- Jean-Pierre Lepoittevin
-
Combined small molecule and loss-of-function screen uncovers estrogen receptor alpha and CAD as host factors for HDV infection and antiviral targets
- Eloi R Verrier
- Amélie Weiss
- Charlotte Bach
- Laura Heydmann
- Vincent Turon-Lagot
- Arnaud Kopp
- Houssein El Saghire
- Emilie Crouchet
- Patrick Pessaux
- Thomas Garcia
- Patrick Pale
- Mirjam B. Zeisel
- Camille Sureau
- Catherine Schuster
- Laurent Brino
- Thomas F. Baumert
Gut ; Page: gutjnl-2018-317065
-
Intracellular and Plasma Membrane Cholesterol Labeling and Quantification Using Filipin and GFP-D4
- Léa Wilhelm
- Laetitia Voilquin
- Toshihide Kobayashi
- Catherine Tomasetto
- Fabien Alpy
Intracellular Lipid Transport ; Volume: 1949 ; Page: 137-152
-
Drosophila melanogaster as a Model to Study the Multiple Phenotypes, Related to Genome Stability of the Fragile-X Syndrome
- Valeria Specchia
- Antonietta Puricella
- Simona D’attis
- Serafina Massari
- Angela Giangrande
- Maria Pia Bozzetti
Frontiers in Genetics ; Volume: 10
-
Drosophila melanogaster as a Model to Study the Multiple Phenotypes, Related to Genome Stability of the Fragile-X Syndrome
- Valeria Specchia
- Antonietta Puricella
- Simona D’attis
- Serafina Massari
- Angela Giangrande
- Maria Pia Bozzetti
Frontiers in Genetics ; Volume: 10
-
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
- Raphael Carapito
- Ekaterina L. Ivanova
- Aurore Morlon
- Linyan Meng
- Anne Molitor
- Eva Erdmann
- Bruno Kieffer
- Angélique Pichot
- Lydie Naegely
- Aline Kolmer
- Nicodème Paul
- Antoine Hanauer
- Frédéric Tran Mau-Them
- Nolwenn Jean-Marçais
- Susan M. Hiatt
- Gregory M. Cooper
- Tatiana Tvrdik
- Alison M. Muir
- Clémantine Dimartino
- Maya Chopra
- ...
American Journal of Human Genetics ; Volume: 104 ; Page: 319 - 330
-
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation
- Amy O'Connell
- Maxim Gerashchenko
- Marie-Françoise O'Donohue
- Samantha Rosen
- Eric Huntzinger
- Diane Gleeson
- Antonella Galli
- Edward Ryder
- Siqi Cao
- Quinn Murphy
- Shideh Kazerounian
- Sarah Morton
- Klaus Schmitz-Abe
- Vadim Gladyshev
- Pierre-Emmanuel Gleizes
- Bertrand Séraphin
- Pankaj Agrawal
PLoS Genetics ; Volume: 15 ; Page: e1007917
-
Modulation of RXR-DNA complex assembly by DNA context
- Judit Osz
- Alastair G Mcewen
- Justine Wolf
- Pierre Poussin-Courmontagne
- Carole Peluso-Iltis
- Yassmine Chebaro
- Bruno Kieffer
- Natacha Rochel
Molecular and Cellular Endocrinology ; Volume: 481 ; Page: 44-52
-
Macrophage functionality and homeostasis in response to oligoethyleneglycol-coated IONPs: Impact of a dendritic architecture
- Anne Casset
- Julien Jouhannaud
- Antonio Garofalo
- Coralie Spiegelhalter
- Dinh-Vu Nguyen
- Delphine Felder-Flesch
- Geneviève Pourroy
- Françoise Pons
International Journal of Pharmaceutics ; Volume: 556 ; Page: 287-300
-