Grand Projet

Valentina Boeva et al.
Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries
Nature Genetics 2017, vol. 49, issue 9
doi: 10.1038/ng.3921

Stéphanie Guey et al.
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians
European Journal of Human Genetics 2017, vol. 25, issue 8
doi: 10.1038/ejhg.2017.92

Alain Meyer et al.
IFN-β-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis
Acta Neuropathologica 2017, vol. 134, issue 4
doi: 10.1007/s00401-017-1731-9

Pierre-Antoine Juge et al.
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis
European Respiratory Journal 2017, vol. 49, issue 5
doi: 10.1183/13993003.02314-2016

Legendre M. et al.
In-depth study of Mollivirus sibericum, a new 30,000-y-old giant virus infecting Acanthamoeba
Proc Nat Acad Sci U.S.A. 2015 112(38) :E5327-E5335.
doi: 10.1073/pnas.1510795112

Merlevede J. et al.
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents
Nat Commun. (2016) 7: 10767
doi: 10.1038/ncomms10767

Nicolas G. et al.
CNR-MAJ collaborators. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease
Mol Psychiatry. (2016) 21(6):831-6
doi: 10.1038/mp.2015.121

O'Grady GL. et al.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Am J Hum Genet. (2016) .99(5):1086-1105
doi: 10.1016/j.ajhg.2016.09.005

Le Guennec K. et al.
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
Mol Psychiatry. (2016) Dec 13
doi: 10.1038/mp.2016.226

Dos Santos RS. et al.
dUTPase (DUT) is mutated in a novel monogenic syndrome with diabetes and bone marrow failure.
Diabetes (2017) Apr. 66(4):1086-1096.
doi: 10.2337/db16-0839