Publications
2024
Article in a journal
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes
- Tanja Zdolšek Draksler
- Arianne Bouman
- Alenka Guček
- Erik Novak
- Pauline Burger
- Florent Colin
- Tjitske Kleefstra
European Journal of Medical Genetics ; Volume: 72 ; Page: 104974
Article in a journal
Molecular basis of mRNA delivery to the bacterial ribosome
- Michael Webster
- Adrien Chauvier
- Huma Rahil
- Andrea Graziadei
- Kristine Charles
- Nataliya Miropolskaya
- Maria Takacs
- Charlotte Saint-André
- Juri Rappsilber
- Nils Walter
- Albert Weixlbaumer
Science ; Volume: 386
Article in a journal
MODOMICS: a database of RNA modifications and related information. 2023 update
- Andrea Cappannini
- Angana Ray
- Elżbieta Purta
- Sunandan Mukherjee
- Pietro Boccaletto
- S Naeim Moafinejad
- Antony Lechner
- Charles Barchet
- Bruno P. Klaholz
- Filip Stefaniak
- Janusz M Bujnicki
Nucleic Acids Research ; Volume: 52 ; Page: D239 - D244
Article in a journal
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome
- Efil Bayam
- Peggy Tilly
- Stephan Collins
- José Rivera Alvarez
- Meghna Kannan
- Lucile Tonneau
- Elena Brivio
- Bruno Rinaldi
- Romain Lecat
- Noémie Schwaller
- Ludovica Cotellessa
- Sateesh Maddirevula
- Fabiola Monteiro
- Carlos Guardia
- João Paulo Kitajima
- Fernando Kok
- Mitsuhiro Kato
- Ahlam Hamed
- Mustafa Salih
- Saeed Al Tala
- ...
EMBO Molecular Medicine ; Volume: 17 ; Page: 129-168
Article in a journal
Remodelling of Rea1 linker domain drives the removal of assembly factors from pre-ribosomal particles
- Johan Busselez
- Geraldine Koenig
- Carine Dominique
- Torben Klos
- Deepika Velayudhan
- Piotr Sosnowski
- Nils Marechal
- Corinne Crucifix
- Hugo Gizardin-Fredon
- Sarah Cianferani
- Benjamin Albert
- Yves Henry
- Anthony K Henras
- Helgo Schmidt
Nature Communications ; Volume: 15 ; Page: 10309
Pre-publication, Working Document
Evolutionary conservation of the Gcm/Glide cascade: of glia and beyond
- Sara Monticelli
- Angela Giangrande
Article in a journal
Le tamoxifène, une molécule à fort potentiel thérapeutique pour toutes les myopathies centronucléaires, Tamoxifen, a high-potential molecule to treat all centronuclear myopathies
- Charlotte Gineste
- Jocelyn Laporte
Médecine/Sciences ; Volume: 40 ; Page: 34-39
Article in a journal
Epidermal maintenance of Langerhans cells relies on autophagy-regulated lipid metabolism
- Florent Arbogast
- Raquel Sal-Carro
- Wacym Boufenghour
- Quentin Frenger
- Delphine Bouis
- Louise Filippi de la Palavesa
- Jean-Daniel Fauny
- Olivier Griso
- Hélène Puccio
- Rebecca Fima
- Thierry Huby
- Emmanuel L Gautier
- Anne Molitor
- Raphaël Carapito
- Seiamak Bahram
- Nikolaus Romani
- Björn E Clausen
- Benjamin Voisin
- Christopher G Mueller
- Frédéric Gros
- ...
Journal of Cell Biology ; Volume: 224
Article in a journal
Srs2/PARI DNA helicase mediates abscission inhibition in response to chromatin bridges in yeast and human cells
- Monica Dam
- Nicola Brownlow
- Audrey Furst
- Coralie Spiegelhalter
- Manuel Mendoza
BioRxiv
Article in a journal
A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice
- Laura Pérez-Guàrdia
- Emma Lafabrie
- Nadège Diedhiou
- Coralie Spiegelhalter
- Jocelyn Laporte
- Johann Böhm
Cells ; Volume: 13 ; Page: 1829