Publications Grand Projet
Julie Ferreira de Carvalho et al.
Cytonuclear interactions remain stable during allopolyploid evolution despite repeated whole‐genome duplications in Brassica
The Plant Journal 2019, vol. 98, issue 3
doi: 10.1111/tpj.14228
Delphine Mieulet et al.
Unleashing meiotic crossovers in crops
Nature Plants 2018, vol. 4, issue 12
doi: 10.1038/s41477-018-0311-x
Franc-Christophe Baurens et al.
Recombination and Large Structural Variations Shape Interspecific Edible Bananas Genomes
Molecular Biology and Evolution 2018, vol. 36, issue 1
doi: 10.1093/molbev/msy199
Artem Kim et al.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly
Brain 2018, vol. 142, issue 1
doi: 10.1093/brain/awy290
Caroline Belser et al.
Chromosome-scale assemblies of plant genomes using nanopore long reads and optical maps
Nature Plants 2018, vol. 4, issue 11
doi: 10.1038/s41477-018-0289-4
Miguel M. Pinto et al.
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3 ‐related type 1 pontocerebellar hypoplasia
Muscle & Nerve 2018
doi: 10.1002/mus.26305
Maria-Teresa Dotti et al.
Discordant manifestations in Italian brothers with GNE myopathy
Journal of the Neurological Sciences 2018, vol. 386
doi: 10.1016/j.jns.2018.01.002
Jérôme Audoux et al.
DE-kupl: exhaustive capture of biological variation in RNA-seq data through k-mer decomposition
Genome Biology 2017, vol. 18, issue 1
doi: 10.1186/s13059-017-1372-2
Gustave Djedatin et al.
DuplicationDetector , a light weight tool for duplication detection using NGS data
Current Plant Biology 2017, vol. 9-10
doi: 10.1016/j.cpb.2017.07.001
Florence Rufflé et al.
New chimeric RNAs in acute myeloid leukemia
F1000Research 2017, vol. 6
doi: 10.12688/f1000research.11352.1
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
Biancalana V. et al.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol. (2017) Dec. 134(6):889-904.
doi: 10.1007/s00401-017-1748-0
Abath Neto O. et al.
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Neuromuscul Disord. (2017) Nov. 27(11):975-985.
doi: 10.1016/j.nmd.2017.05.016
Terrat S. et al.
Mapping and predictive variations of soil bacterial richness across France.
PLoS One (2017) Oct. 12(10):e0186766.
doi: 10.1371/journal.pone.0186766
Bellenguez C. et al.
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.
Neurobiol. Aging (2017) Jul. pii: S0197-4580(17)30232-4.
doi: 10.1016/j.neurobiolaging.2017.07.001
Echaniz-Laguna A. et al.
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
Acta Neuropathol. (2017) Jul.134(1):163-165.
doi: 10.1007/s00401-017-1724-8
Fragoso CA. et al.
Genetic architecture of a rice nested association mapping population.
G3 (2017) Jun. 7(6):1913-1926.
doi: 10.1534/g3.117.041608
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
Schartner V. et al.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol. (2017) Apr. 133(4):517-533.
doi: 10.1007/s00401-016-1656-8
Leroy T. et al.
Extensive recent secondary contacts between four European white oak species.
New Phytol. (2017) Apr. 214(2):865-878.
doi: 10.1111/nph.14413
Bohm J. et al.
ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy.
Human Mutation (2017).Mar. 38 (4): 426-438
doi: 10.1002/humu.23172
Lornage X. et al.
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Ann Neurol. 2017 Mar. 81(3):467-473.
doi: 10.1002/ana.24900