Scientific publications
Publications
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2020
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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
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µgreen-db: a reference database for the 23S rRNA gene of eukaryotic plastids and cyanobacteria
- Christophe Djemiel
- Damien Plassard
- Sébastien Terrat
- Olivier Crouzet
- Joana Sauze
- Samuel Mondy
- Virginie Nowak
- Lisa Wingate
- Jérôme Ogée
- Pierre-Alain Maron
Scientific Reports ; Volume: 10 ; Page: 1-11
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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
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High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models
- Brahim Belbellaa
- Laurence Reutenauer
- Nadia Messaddeq
- Laurent Monassier
- Hélène Puccio
Molecular Therapy - Methods and Clinical Development ; Volume: 19 ; Page: 120-138
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Mechanism of cystathionine-β-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II)
- Karim Zuhra
- Theodora Panagaki
- Elisa Randi
- Fiona Augsburger
- Marc Blondel
- Gaelle Friocourt
- Yann Herault
- Csaba Szabo
Biochemical Pharmacology ; Volume: 182 ; Page: 114267
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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
- Sandra Donkervoort
- Carl E. Kutzner
- Ying Hu
- Xavière Lornage
- John Rendu
- Tanya Stojkovic
- Jonathan Baets
- Sarah B. Neuhaus
- Jantima Tanboon
- Reza Maroofian
- Véronique Bolduc
- Magdalena Mroczek
- Stefan Conijn
- Nancy L. Kuntz
- Ana Töpf
- Soledad Monges
- Fabiana Lubieniecki
- Riley M. Mccarty
- Katherine R. Chao
- Serena Governali
- ...
American Journal of Human Genetics ; Volume: 107 ; Page: 1078-1095
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Dichloromethane Degradation Pathway from Unsequenced Hyphomicrobium sp. MC8b Rapidly Explored by Pan-Proteomics
- Karim Hayoun
- Emilie Geersens
- Cédric C Laczny
- Rashi Halder
- Carmen Lázaro Sánchez
- Abhijit Manna
- Françoise Bringel
- Michaël Ryckelynck
- Paul Wilmes
- Emilie Muller
- Béatrice Alpha-Bazin
- J. Armengaud
- Stéphane Vuilleumier
Microorganisms ; Volume: 8
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An Integrated Analysis of miRNA and Gene Expression Changes in Response to an Obesogenic Diet to Explore the Impact of Transgenerational Supplementation with Omega 3 Fatty Acids
- Karla Fabiola Corral-Jara
- Laura Cantini
- Nathalie Poupin
- Tao Ye
- Jean-Paul Rigaudière
- Sarah de Saint Vincent
- Alexandre Pinel
- Béatrice Morio
- Frédéric Capel
Nutrients ; Volume: 12 ; Page: 3864
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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
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Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome
- Alexey Epanchintsev
- Marc-Alexander Rauschendorf
- Federico Costanzo
- Nadege Calmels
- Cathy Obringer
- Alain Sarasin
- Frédéric Coin
- Vincent Laugel
- Jean‐marc Egly
Scientific Reports ; Volume: 10 ; Page: 1105
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