CNRGH
Nadine AME van der Beek et al.
A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1
European Journal of Human Genetics 2018, vol. 27, issue 3
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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
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Laustriat D. et al.
In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin
Mol Ther Nucleic Acids. 2015, 4p. e26
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Chalhoub B. et al
Early allopolyploid evolution in the post-Neolithic Brassica napus oilseed genome
Science. 2014 Aug 22,345(6199):950-3
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Mirzaa GM et al.
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
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Merlevede J. et al.
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents
Nat Commun. (2016) 7: 10767
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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
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Gargaun E. et al.
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome
J Neurol. (2016) 263(7):1456-8
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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
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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