CNRGH

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

Neto OA. et al.
Nonlethal CHRNA1-related congenital Myasthenic Syndrome with a homozygous null mutation.
Canadian Journal of Neurological Sciences (2017) Jan. 44 (1):125-127
doi: 10.1017/cjn.2016.322

Nelson I. et al.
Novel recessive splice site mutation in POPDC1 (BVES) is associated with first-degree atrioventricular block and muscular dystrophy.
Neuromus. Dis. (2017) Oct. 27: S139-S140.
doi: 10.1016/j.nmd.2017.06.172

Mauger F. et al.
COLD-PCR technologies in the area of personalized medicine: Methodology and Applications.
Mol Diagn Ther. (2017) Jun. 21(3):269-283.
doi: 10.1007/s40291-016-0254-8

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

Troudet R. et al.
RNA signature and prediction to treatment response in first episode schizophrenia.
European Neuropsychopharm. (2017) Oct. 27: S597-S597.
doi: 10.1016/S0924-977X(17)31139-2

Saultier P. et al.
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
Haematologica (2017) Jun. 102(6):1006-1016.
doi: 10.3324/haematol.2016.153577

Lornage X. et al.
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Ann Neurol. 2017 Mar. 81(3):467-473.
doi: 10.1002/ana.24900

Ivanova ELet al.
Homozygous truncating variants in TBC1D23 cause Pontocerebellar Hypoplasia and alter cortical development.
Am J Hum Genet. (2017) Sep. 101(3):428-440.
doi: 10.1016/j.ajhg.2017.07.010

Scelo G. et al.
Genome-wide association study identifies multiple risk loci for renal cell carcinoma.
Nat Commun. (2017) Jun. 8:15724.
doi: 10.1038/ncomms15724