Publications
2024
Article in a journal
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
- Yvan de Feraudy
- Marie Vandroux
- Norma Beatriz Romero
- Raphaël Schneider
- Safaa Saker
- Anne Boland
- Jean-François Deleuze
- Jean‐françois Deleuze
- Valérie Biancalana
- Johann Böhm
- Jocelyn Laporte
Genome Medicine ; Volume: 16 ; Page: 87
Article in a journal
Neuronal A2A receptor exacerbates synapse loss and memory deficits in APP/PS1 mice
- Victoria Gomez-Murcia
- Agathe Launay
- Kévin Carvalho
- Anaëlle Burgard
- Céline Meriaux
- Raphaëlle Caillierez
- Sabiha Eddarkaoui
- Devrim Kilinc
- Dolores Siedlecki-Wullich
- Mélanie Besegher
- Séverine Bégard
- Bryan Thiroux
- Matthieu Jung
- Ouada Nebie
- Maxence Wisztorski
- Nicole Déglon
- Claire Montmasson
- Alexis-Pierre Bemelmans
- Malika Hamdane
- Thibaud Lebouvier
- ...
Brain - A Journal of Neurology ; Volume: 147 ; Page: 2691–2705
Article in a journal
Piggybacking functionalized DNA nanostructures into live-cell nuclei
- Golbarg Roozbahani
- P. Colosi
- Attila Oravecz
- Elena Sorokina
- Wolfgang Pfeifer
- Siamak Shokri
- Yin Wei
- Pascal Didier
- Marcello Deluca
- Gaurav Arya
- László Tora
- Melike Lakadamyali
- Michael Poirier
- Carlos Castro
Science Advances ; Volume: 10
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
Chapter of the book
A Time and Cost-Effective Pipeline for Expression Screening and Protein Production in Insect Cells Based on the HR-Bac Toolbox to Generate Recombinant Baculoviruses
- Jules Loup-Forest
- Manon Matuchet
- Charlotte Schnitzler
- Simon Pichard
- Arnaud Poterszman
Baculovirus. Methods and Protocols ; Volume: 2829 ; Page: 21-48
Article in a journal
Recurrent non-rheumatic streptococcal myocarditis: 18F-FDG PET/CMR findings
- Philippe Baltzinger
- Soraya El Ghannudi
- Marine Germaini
- Jean-Jacques von Hunolstein
- Floriane Zeyons
- Alessio Imperiale
QJM: An International Journal of Medicine ; Volume: 117 ; Page: 457-459
Article in a journal
Defining a vitamin A5/X specific deficiency – vitamin A5/X as a critical dietary factor for mental health
- Diána Bánáti
- Julian Hellman-Regen
- Isabelle Mack
- Hayley A. Young
- David Benton
- Manfred Eggersdorfer
- Sascha Rohn
- Joanna Dulińska-Litewka
- Wojciech Krężel
- Ralph Rühl
International Journal for Vitamin and Nutrition Research ; Volume: 94 ; Page: 443-475
Article in a journal
Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability
- Claire E L Smith
- Virginie Laugel-Haushalter
- Ummey Hany
- Sunayna Best
- Rachel L Taylor
- James A Poulter
- Saskia B Wortmann
- Rene G Feichtinger
- Johannes A Mayr
- Suhaila Al Bahlani
- Georgios Nikolopoulos
- Alice Rigby
- Graeme C Black
- Christopher M Watson
- Sahar Mansour
- Chris F Inglehearn
- Alan J Mighell
- Agnès Bloch-Zupan
Journal of Medical Genetics ; Volume: 61 ; Page: 689-698
Article in a journal
Protein arginine methyltransferase 2 controls inflammatory signaling in acute myeloid leukemia
- Camille Sauter
- Thomas Morin
- Fabien Guidez
- John Simonet
- Cyril Fournier
- Céline Row
- Denis Masnikov
- Baptiste Pernon
- Anne Largeot
- Aziza Aznague
- Yann Hérault
- Guy Sauvageau
- Marc Maynadié
- Mary Callanan
- Jean-Noël Bastie
- Romain Aucagne
- Laurent Delva
Communications Biology ; Volume: 7 ; Page: 753
Article in a journal
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
- Didier Lacombe
- Agnès Bloch-Zupan
- Cecilie Bredrup
- Edward Cooper
- Sofia Douzgou Houge
- Sixto García-Miñaúr
- Hülya Kayserili
- Lidia Larizza
- Vanesa Lopez Gonzalez
- Leonie Menke
- Donatella Milani
- Francesco Saettini
- Cathy Stevens
- Lloyd Tooke
- Jill van der Zee
- Maria van Genderen
- Julien Van-Gils
- Jane Waite
- Jean-Louis Adrien
- Oliver Bartsch
- ...
Journal of Medical Genetics ; Volume: 61 ; Page: 503-519