CNRGH
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17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
Mol Psychiatry. (2016) Dec 13
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Biancalana V. et al.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol. (2017) Dec. 134(6):889-904.
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Bruel AL. et al.
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
J Med Genet. (2017) Dec. 54(12):830-835.
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Flachsbart F. et al.
Identification and characterization of two functional variants in the human longevity gene FOXO3.
Nat Commun. 2017 Dec. 8(1):2063.
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Renault V. et al.
aCNViewer: Comprehensive genome-wide visualization of absolute copy number and copy neutral variations.
PLoS One (2017) Dec. 12(12):e0189334.
doi: 10.1371/journal.pone.0189334
Cerino M. et al.
Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Muscle Nerve (2017) Nov. 56(5):993-997.
doi: 10.1002/mus.25638
Fleischer T. et al.
DNA methylation at enhancers identifies distinct breast cancer lineages.
Nat Commun. (2017) Nov. 8(1):1379.
doi: 10.1038/s41467-017-00510-x
Letouze E. et al.
Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis.
Nat Commun. (2017) Nov. 8(1):1315.
doi: 10.1038/s41467-017-01358-x
Machiela MJ. et al.
Genetic variants related to longer telomere length are associated with increased risk of Renal Cell Carcinoma.
Europ. Urol. (2017) Nov. 72 (5): 747-754
doi: 10.1016/j.eururo.2017.07.015
Manes G. et al.
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
Hum Mol Genet. (2017) Nov. 26(22):4367-4374.
doi: 10.1093/hmg/ddx322