CNRGH
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
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
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
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
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
Suchon P. et al.
Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk.
Sci Rep. (2017) Apr. 7:45507.
doi: 10.1038/srep45507
Tost J. et al.
Epigenetics of the immune system and alterations in inflammation and autoimmunity Foreword.
Epigenomics (2017) Apr. 9(4):371-373.
doi: 10.2217/epi-2017-0026
Mobuchon L. et al.
A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus.
NPJ Genom Med. (2017) Mar. 2. pii: 5.
doi: 10.1038/s41525-017-0008-5
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
Arseneault M. et al.
Loss of chromosome Y leads to down regulation of KDM5D and KDM6C epigenetic modifiers in clear cell renal cell carcinoma.
Sci Rep. (2017) Mar. 7:44876.
doi: 10.1038/srep44876