CNRGH

Laustriat D. et al.
In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin
Mol Ther Nucleic Acids. 2015, 4p. e26
doi: 10.1038/mtna.2015.35

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, 14 (12): p. 1182-1195
doi: 10.1016/S1474-4422(15)00278

Chalhoub B. et al
Early allopolyploid evolution in the post-Neolithic Brassica napus oilseed genome
Science. 2014 Aug 22,345(6199):950-3
doi: 10.1126/science.1253435

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

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

Gargaun E. et al.
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome
J Neurol. (2016) 263(7):1456-8
doi: 10.1007/s00415-016-8153-9

Colin E. et al.
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
Am J Hum Genet. (2016) 99(3):695-703
doi: 10.1016/j.ajhg.2016.06.030

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

Schartner V. et al.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Acta Neuropathol. (2016) Dec 23
doi: 10.1007/s00401-016-1656-8