Study of copy number variants in autism spectrum disorders and their comorbidities
Team Leader : Christelle GOLZIO
Department : Translational medecine and neurogenetics
Christelle GOLZIO
Researcher
christelle.golzio@igbmc.fr
Research team(s)
Publications
2025
Article in a journal
Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant
- Marianne Victoria Lemée
- Maria Nicla Loviglio
- Tao Ye
- Peggy Tilly
- Céline Keime
- Chantal Weber
- Anastasiya Petrova
- Pernelle Klein
- Bastien Morlet
- Olivia Wendling
- Hugues Jacobs
- Mylène Tharreau
- David Geneviève
- Juliette Godin
- Christophe Romier
- Delphine Duteil
- Christelle Golzio
Nucleic Acids Research ; Volume: 53
Pre-publication, Working Document » Preprint/Prepublication
Structural analysis of HERC2/UBE3A and HERC2/DOCK10 complexes provides new insights into the molecular basis of Angelman, Angelman-like and Dup15q Syndromes
- Auguste Demenge
- Jiawen Lim
- Arpoudamarie Roc
- Boglarka Zambo
- Gergo Gogl
- Alexandra Cousido-Siah
- Alastair G Mcewen
- Anna Bonhoure
- Camille Kostmann
- Christine Fagotto-Kaufmann
- Pascal Eberling
- Judit Osz-Papai
- Alberto Podjarny
- Eduardo Howard
- Christelle Golzio
- Anne Debant
- Susanne Schmidt
- Gilles Travé
Article in a journal
SINEUP RNA rescues molecular phenotypes associated with CHD8 suppression in autism spectrum disorder model systems
- Francesca Di Leva
- Michele Arnoldi
- Stefania Santarelli
- Mathieu Massonot
- Marianne Victoria Lemée
- Carlotta Bon
- Miguel Pellegrini
- Maria Elena Castellini
- Giulia Zarantonello
- Andrea Messina
- Yuri Bozzi
- Raphael Bernier
- Silvia Zucchelli
- Simona Casarosa
- Erik Dassi
- Giuseppe Ronzitti
- Christelle Golzio
- Jasmin Morandell
- Stefano Gustincich
- Stefano Espinoza
- ...
Molecular Therapy ; Volume: 33 ; Page: 1180 - 1196
2024
Article in a journal
The cohesin ATPase cycle is mediated by specific conformational dynamics and interface plasticity of SMC1A and SMC3 ATPase domains
- Marina Vitoria Gomes
- Pauline Landwerlin
- Marie-Laure Diebold-Durand
- Tajith B Shaik
- Alexandre Durand
- Edouard Troesch
- Chantal Weber
- Karl Brillet
- Marianne V Lemée
- Christophe Decroos
- Ludivine Dulac
- Pierre Antony
- Erwan Watrin
- Eric Ennifar
- Christelle Golzio
- Christophe Romier
Cell Reports ; Volume: 43 ; Page: 114656
Article in a journal
A genetic-epigenetic interplay at 1q21.1 locus underlies CHD1L-mediated vulnerability to primary progressive multiple sclerosis
- Majid Pahlevan Kakhki
- Antonino Giordano
- Chiara Starvaggi Cucuzza
- Tejaswi Venkata S. Badam
- Samudyata Samudyata
- Marianne Victoria Lemée
- Pernilla Stridh
- Asimenia Gkogka
- Klementy Shchetynsky
- Adil Harroud
- Alexandra Gyllenberg
- Yun Liu
- Sanjaykumar Boddul
- Tojo James
- Melissa Sorosina
- Massimo Filippi
- Federica Esposito
- Fredrik Wermeling
- Mika Gustafsson
- Patrizia Casaccia
- ...
Nature Communications ; Volume: 15 ; Page: 6419
Article in a journal
Improving laboratory animal genetic reporting: LAG-R guidelines
- Lydia Teboul
- James Amos-Landgraf
- Fernando J Benavides
- Marie-Christine Birling
- Steve D M Brown
- Elizabeth Bryda
- Rosie Bunton-Stasyshyn
- Hsian-Jean Chin
- Martina Crispo
- Fabien Delerue
- Michael Dobbie
- Craig L Franklin
- Ernst-Martin Fuchtbauer
- Xiang Gao
- Christelle Golzio
- Rebecca Haffner
- Yann Hérault
- Martin Hrabe de Angelis
- Kevin C Kent Lloyd
- Terry R Magnuson
- ...
Nature Communications ; Volume: 15
2022
Article in a journal
Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance
- Gaëlle Hayot
- Mathieu Massonot
- Céline Keime
- Elodie Faure
- Christelle Golzio
Life Science Alliance ; Volume: 6
2020
Article in a journal
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
- Laure Asselin
- José Rivera Alvarez
- Solveig Heide
- Camille Bonnet
- Peggy Tilly
- Hélène Vitet
- Chantal Weber
- Carlos Bacino
- Kristin Baranaño
- Anna Chassevent
- Amy Dameron
- Laurence Faivre
- Neil Hanchard
- Sonal Mahida
- Kirsty Mcwalter
- Cyril Mignot
- Caroline Nava
- Agnès Rastetter
- Haley Streff
- Christel Thauvin-Robinet
- ...
Nature Communications ; Volume: 11
Article in a journal
A dominant vimentin variant causes a rare syndrome with premature aging
- Benjamin Cogné
- Jamal-Eddine Bouameur
- Gaëlle Hayot
- Xenia Latypova
- Sundararaghavan Pattabiraman
- Amandine Caillaud
- Karim Si-Tayeb
- Thomas Besnard
- Sébastien Küry
- Caroline Chariau
- Anne Gaignerie
- Laurent David
- Philippe Bordure
- Daniel Kaganovich
- Stéphane Bézieau
- Christelle Golzio
- Thomas Magin
- Bertrand Isidor
European Journal of Human Genetics ; Volume: 28 ; Page: 1218-1230
Article in a journal
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
- Francesca Mattioli
- Gaelle Hayot
- Nathalie Drouot
- Bertrand Isidor
- Jérémie Courraud
- Maria-Victoria Hinckelmann
- Frederic Tran Mau-Them
- Chantal Sellier
- Alica Goldman
- Aida Telegrafi
- Alicia Boughton
- Candace Gamble
- Sebastien Moutton
- Angélique Quartier
- Nolwenn Jean
- Paul van Ness
- Sarah Grotto
- Sophie Nambot
- Ganka Douglas
- Yue Cindy Si
- ...
American Journal of Human Genetics ; Volume: 106 ; Page: 438-452