Publications
2020
Article in a journal
DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies.
- A. Bruel
- B. Gerard
- A. Piton
- F. Tran Mau-Them
- A. Sorlin
- A. Sorly
- D. Lacombe
- S. Manouvrier
- P. Edery
- Nicole Philip
- D. Genevieve
- A. Verloes
- S. Odent
- J. Thevenon
- A. Toutain
- D. Bonneau
- S. El Chehadeh
- M. Doco-Fenzy
- B. Isidor
- A. Goldenberg
- ...
European Journal of Human Genetics ; Volume: 28 ; Page: 333-334
Article in a journal
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
- Sandra Donkervoort
- Carl Kutzner
- Ying Hu
- Xavière Lornage
- John Rendu
- Tanya Stojkovic
- Jonathan Baets
- Sarah Neuhaus
- Jantima Tanboon
- Reza Maroofian
- Véronique Bolduc
- Magdalena Mroczek
- Stefan Conijn
- Nancy Kuntz
- Ana Töpf
- Soledad Monges
- Fabiana Lubieniecki
- Riley Mccarty
- Katherine Chao
- Serena Governali
- ...
American Journal of Human Genetics ; Volume: 107 ; Page: 1078-1095
Article in a journal
FFAT motif phosphorylation controls formation and lipid transfer function of inter‐organelle contacts
- Thomas Di Mattia
- Arthur Martinet
- Souade Ikhlef
- Alastair G Mcewen
- Yves Nominé
- Corinne Wendling
- Pierre Poussin‐courmontagne
- Laetitia Voilquin
- Pascal Eberling
- Frank Ruffenach
- Jean Cavarelli
- John Slee
- Timothy P Levine
- Guillaume Drin
- Catherine Tomasetto
- Fabien Alpy
EMBO Journal ; Volume: 39
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
Dissociation in reactive and proactive inhibitory control in Myoclonus dystonia
- Cyril Atkinson-Clement
- Clément Tarrano
- Camille-Albane Porte
- Nicolas Wattiez
- Cecile Delorme
- Eavan Mcgovern
- Vanessa Brochard
- Stéphane Thobois
- Christine Tranchant
- David Grabli
- Bertrand Degos
- Jean Christophe Corvol
- Jean Michel Pedespan
- Pierre Krystkoviak
- Jean-Luc Houeto
- Adrian Degardin
- Luc Defebvre
- Romain Valabregue
- Charlotte Rosso
- Emmanuelle Apartis
- ...
Scientific Reports ; Volume: 10
Article in a journal
Local retinoic acid signaling directs emergence of the extraocular muscle functional unit
- Glenda Evangelina Comai
- Markéta Tesařová
- Valerie Dupé
- Muriel Rhinn
- Pedro Vallecillo-García
- Fabio da Silva
- Betty Feret
- Katherine Exelby
- Pascal Dollé
- Leif Carlsson
- Brian Pryce
- François Spitz
- Sigmar Stricker
- Tomáš Zikmund
- Jozef Kaiser
- James Briscoe
- Andreas Schedl
- Norbert B. Ghyselinck
- Ronen Schweitzer
- Shahragim Tajbakhsh
PLoS Biology ; Volume: 18 ; Page: e3000902
Article in a journal
In vivo RyR1 reduction in muscle triggers a core-like myopathy
- Laurent Pelletier
- Anne Petiot
- Julie Brocard
- Benoit Giannesini
- Diane Giovannini
- Colline Sanchez
- Lauriane Travard
- Mathilde Chivet
- Mathilde Beaufils
- Candice Kutchukian
- David Bendahan
- Daniel Metzger
- Clara Franzini Armstrong
- Norma Romero
- John Rendu
- Vincent Jacquemond
- Julien Fauré
- Isabelle Marty
Acta Neuropathologica Communications ; Volume: 8 ; Page: 192
Article in a journal
In vivo RyR1 reduction in muscle triggers a core-like myopathy
- Laurent Pelletier
- Anne Petiot
- Julie Brocard
- Benoit Giannesini
- Diane Giovannini
- Colline Sanchez
- Lauriane Travard
- Mathilde Chivet
- Mathilde Beaufils
- Candice Kutchukian
- David Bendahan
- Daniel Metzger
- Clara Franzini Armstrong
- Norma B Romero
- John Rendu
- Vincent Jacquemond
- Julien Fauré
- Isabelle Marty
Acta Neuropathologica Communications ; Volume: 8
Pre-publication, Working Document
KAT2-mediated acetylation switches the mode of PALB2 chromatin association to safeguard genome integrity
- Marjorie Fournier
- Jean-Yves Bleuyard
- Anthony Couturier
- Jessica Ellins
- Svenja Hester
- Stephen Smerdon
- Làszlo Tora
- Fumiko Esashi
Pre-publication, Working Document
Global regulatory transitions at core promoters demarcate the mammalian germline cycle
- Nevena Cvetesic
- Malgorzata Borkowska
- Yuki Hatanaka
- Harry Leitch
- Ferenc Müller
- Changwei Yu
- Stéphane Vincent
- Làszlo Tora
- Petra Hajkova
- Boris Lenhard