
Scientific publications
Publications
-
2023
-
Article in a journal
Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S -related myopathy
- Yukari Endo
- Linda Groom
- Sabrina Wang
- Emanuela Pannia
- Nigel Griffiths
- Jenica van Gennip
- Brian Ciruna
- Jocelyn Laporte
- Robert Dirksen
- James Dowling
Human Molecular Genetics ; Volume: 33 ; Page: 254-269
-
Article in a journal
Ikaros is a principal regulator of Aire + mTEC homeostasis, thymic mimetic cell diversity, and central tolerance
- Jun Hyung Sin
- Juliana Sucharov
- Sujit Kashyap
- Yi Wang
- Irina Proekt
- Xian Liu
- Audrey Parent
- Alexander Gupta
- Philippe Kastner
- Susan Chan
- James Gardner
- Vasilis Ntranos
- Corey Miller
- Mark Anderson
- Hilde Schjerven
- Michael Waterfield
Science Immunology ; Volume: 8
-
Article in a journal
A novel ΔNp63-dependent immune mechanism improves prognosis of HPV-related head and neck cancer
- Jana Mourtada
- Christelle Lony
- Anaïs Nicol
- Justine de Azevedo
- Cyril Bour
- Christine Macabre
- Patrick Roncarati
- Sonia Ledrappier
- Philippe Schultz
- Christian Borel
- Mickaël Burgy
- Bohdan Wasylyk
- Georg Mellitzer
- Michaël Herfs
- Christian Gaiddon
- Alain C. Jung
Frontiers in Immunology ; Volume: 14 ; Page: 1264093
-
Article in a journal
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
- Thomas Husson
- François Lecoquierre
- Gaël Nicolas
- Anne-Claire Richard
- Alexandra Afenjar
- Séverine Audebert-Bellanger
- Catherine Badens
- Frédéric Bilan
- Varoona Bizaoui
- Anne Boland
- Marie-Noëlle Bonnet-Dupeyron
- Elise Brischoux-Boucher
- Céline Bonnet
- Marie Bournez
- Odile Boute
- Perrine Brunelle
- Roseline Caumes
- Perrine Charles
- Nicolas Chassaing
- Nicolas Chatron
- ...
European Journal of Human Genetics ; Volume: 32 ; Page: 190 - 199
-
Chapter of the book
Synthesis, Biochemical, and Cellular Evaluation of HDAC6 Targeting Proteolysis Targeting Chimeras
- Salma Darwish
- Tino Heimburg
- Johannes Ridinger
- Daniel Herp
- Matthias Schmidt
- Christophe Romier
- Manfred Jung
- Ina Oehme
- Wolfgang Sippl
HDAC/HAT Function Assessment and Inhibitor Development ; Volume: 2589 ; Page: 179-193
-
Article in a journal
1.4 nm gold nanoparticle-antibody conjugates for in situ gold immunolabelling after transduction into living human cells
- Nadja Groysbeck
- Anne Marie Haeberlé
- Stéphane Ory
- Victor Hanss
- Mikhael Eltsov
- Patrick Schultz
- Guy Zuber
Comptes Rendus. Chimie ; Volume: 26 ; Page: 1 - 14
-
Article in a journal
Dihydrofolate reductase activity controls neurogenic transitions in the developing neocortex
- Sulov Saha
- Thomas Jungas
- David Ohayon
- Christophe Audouard
- Tao Ye
- Mohamad-Ali Fawal
- Alice Davy
Development (Cambridge, England) ; Volume: 150 ; Page: dev201696
-
Chapter of the book
An RNA-ligation-based RACE-PAT assay to monitor poly(A) tail length of mRNAs of interest
- Fabienne Mauxion
- Bertrand Séraphin
Methods in Molecular Biology ; Page: 113-123
-
Article in a journal
Clinical outcomes after MRI connectivity-guided radiofrequency thalamotomy for tremor
- Thomas Wirth
- Taco Goedemans
- Ali Rajabian
- Viswas Dayal
- Hazem Abuhusain
- Nirosen Vijiaratnam
- Dilan Athauda
- Marwan Hariz
- Thomas Foltynie
- Patricia Limousin
- Harith Akram
- Ludvic Zrinzo
Journal of Neurosurgery ; Volume: 140 ; Page: 1148-1154