Archives Publications
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
Potaczek DP. et al.
Epigenetics and allergy: from basic mechanisms to clinical applications.
Epigenomics (2017) Apr. 9(4):539-571.
doi: 10.2217/epi-2016-0162
Mercati O. et al.
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
Mol Psychiatry (2017) Apr. 22(4):625-633.
doi: 10.1038/mp.2016.61
Fradin D. et al.
Genome-wide methylation analysis identifies specific epigenetic marks in severely obese children.
Sci Rep. (2017) Apr. 7:46311.
doi: 10.1038/srep46311
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
Badouin H. et al.
Widespread selective sweeps throughout the genome of model plant pathogenic fungi and identification of effector candidates.
Mol Ecol. (2017) Apr. 26(7):2041-2062.
doi: 10.1111/mec.13976
Dupont H. et al.
Structural alteration of OmpR as a source of ertapenem resistance in a CTX-M-15-producing Escherichia coli O25b:H4 sequence type 131 clinical isolate.
Antimicrob Agents Chemother. (2017) Apr. 61(5). pii: e00014-17.
doi: 10.1128/AAC.00014-17
Quartier A. et al.
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.
Eur J Hum Genet. (2017)
doi: 10.1038/ejhg.2016.204
Arguel M.J. et al.
A cost effective 5?selective single cell transcriptome profiling approach with improved UMI design.
Nucleic Acids Res. (2017) Apr. 45(7):e48.
doi: 10.1093/nar/gkw1242
Tarabay Y. et al.
Tex19 paralogs are new members of the piRNA pathway controlling retrotransposon suppression.
J Cell Sci. (2017) Apr. 130(8):1463-1474.
doi: 10.1242/jcs.188763