CNRGH
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
Le Guennec K. et al.
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
Mol Psychiatry. (2016) Dec 13
doi: 10.1038/mp.2016.226
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.
doi: 10.1007/s00401-017-1748-0
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.
doi: 10.1136/jmedgenet-2017-104748
Flachsbart F. et al.
Identification and characterization of two functional variants in the human longevity gene FOXO3.
Nat Commun. 2017 Dec. 8(1):2063.
doi: 10.1038/s41467-017-02183-y
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