Publications
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
Marion Imbert-Bouteille et al.
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
European Journal of Medical Genetics 2018, vol. 62, issue 3
doi: 10.1016/j.ejmg.2018.07.003
Irene Jiménez et al.
Circulating tumor DNA analysis enables molecular characterization of pediatric renal tumors at diagnosis
International Journal of Cancer 2018, vol. 144, issue 1
doi: 10.1002/ijc.31620
L. Mondoulet et al.
Gata3 hypermethylation and Foxp3 hypomethylation are associated with sustained protection and bystander effect following epicutaneous immunotherapy in peanut‐sensitized mice
Allergy 2018, vol. 74, issue 1
doi: 10.1111/all.13479
Bénédicte Stengel et al.
Risk profile, quality of life and care of patients with moderate and advanced CKD: The French CKD-REIN Cohort Study
Nephrology Dialysis Transplantation 2018, vol. 34, issue 2
doi: 10.1093/ndt/gfy058
Kaori Sakai et al.
Combining laser-assisted microdissection (LAM) and RNA-seq allows to perform a comprehensive transcriptomic analysis of epidermal cells of Arabidopsis embryo
Plant Methods 2018, vol. 14, issue 1
doi: 10.1186/s13007-018-0275-x
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
Kopylova E. et al.
Deciphering metatranscriptomic data.
Methods in molecular biology (Clifton, NJ), (2015) 1269:279-291.
doi: 10.1007/978-1-4939-2291-8_17
Prasad MK et al.
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
J Med Genet. Epub 2015 Oct 26.
doi: 10.1136/jmedgenet-2015-103302
Crottès D.et al.
SIGMAR1 Regulates Membrane Electrical Activity in Response to Extracellular Matrix Stimulation to Drive Cancer Cell Invasiveness.
Cancer Res. 76(3):607-18.
doi: 10.1158/0008-5472.CAN-15-1465
Portal MM. et al.
TARDIS, a targeted RNA directional sequencing method for rare RNA discovery.
Nat Protoc. (2015) (12):1915-38.
doi: 10.1038/nprot.2015.120
Mirzaa GM et al.
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Lancet Neurol. (2015)
doi: 10.1016/S1474-4422(15)00278-1
Chevalier B et al.
miR-34/449 control apical actin network formation during multicilio genesis through small GTPase pathways.
Nat Commun. (2015)
doi: 10.1038/ncomms9386
Grünewald TGP. et al.
Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite.
Nature Genetics (2015)
doi: 10.1038/ng.3363
Vembar SS et al.
A. The PfAlba1 RNA-binding protein is an important regulator of translational timing in Plasmodium falciparum blood stages.
Genome Biol. (2015)
doi: 10.1186/s13059-015-0771-5
Chen H et al.
Reinforcement of STAT3 activity reprogrammes human embryonic stem cells to naive-like pluripotency.
Nat Commun. (2015)
doi: 10.1038/ncomms8095
Saintamand A. et al.
Elucidation of IgH 3′ region regulatory role during class switch recombination via germline deletion.
Nat Commun. (2015) 6:7084.
doi: 10.1038/ncomms8084
Rodier G. et al.
The transcription factor E4F1 coordinates CHK1-dependent checkpoint and mitochondrial functions.
Cell Rep. (2015) 11:220-33
doi: doi.org/10.1016/j.celrep.2015.03.024
Zacarias-Cabeza,J. et al.
Transcription-Dependent Generation of a Specialized Chromatin Structure at the TCRbeta Locus.
J. Immunol. (2015) 194, 3432-3443.
doi: 10.4049/jimmunol.1400789
Vanhille L. et al.
(2015). High-throughput and quantitative assessment of enhancer activity in mammals by CapStarr-seq.
Nat Commun.
doi: 10.1038/ncomms7905
Roux PF.et al.
Combined QTL and selective sweep mappings with coding SNP annotation and cis-eQTL analysis revealed PARK2 and JAG2 as new candidate genes for adiposity regulation.
G3 (Bethesda). (2015) 5(4):517-29.
doi: 10.1534/g3.115.016865
Laurette P. et al.
Transcription factor MITF and remodeller BRG1 define chromatin organisation at regulatory elements in melanoma cells.
Elife. (2015) 4.
doi: 10.7554/eLife.06857
Al Adhami H et al.
A systems-level approach to parental genomic imprinting: the imprinted gene network includes extracellular matrix genes and regulates cell cycle exit and differentiation.
Genome Res. (2015)
doi: 10.1101/gr.175919.114