CNRGH

Anttila V et al.
Analysis of shared heritability in common disorders of the brain
Science 2018 360(6395)
doi: 10.1126/science.aap8757

Assoum M et al.
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
American Journal of Medical Genetics Part A 2018 176(11)
doi: 10.1002/ajmg.a.40357

Aubart M et al.
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
European Journal of Human Genetics 2018 26(12)
doi: 10.1038/s41431-018-0164-9

Ávila-Polo R et al.
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Journal of Neuropathology & Experimental Neurology 2018 77(12)
doi: 10.1093/jnen/nly095

Baudrin LG et al.
Molecular and Computational Methods for the Detection of Microsatellite Instability in Cancer
Frontiers in Oncology 2018 8
doi: 10.3389/fonc.2018.00621

Baudrin LG et al.
Improved Microsatellite Instability Detection and Identification by Nuclease-Assisted Microsatellite Instability Enrichment Using HSP110 T17
Clinical Chemistry 2018 64(8)
doi: 10.1373/clinchem.2018.287490

Bayard Q et al.
Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress
Nature Communications 2018 9(1)
doi: 10.1038/s41467-018-07552-9

Ben Hafsa A et al.
Status of potato viruses in Tunisia and molecular characterization of Tunisian Potato Virus X (PVX isolates)
European Journal of Plant Pathology 2017 151(3)
doi: 10.1007/s10658-017-1407-2

Bis JC et al.
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation
Molecular Psychiatry 2018
doi: 10.1038/s41380-018-0112-7

Böhm J et al.
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
Journal of Medical Genetics 2018, vol. 56, issu 9
doi: 10.1136/jmedgenet-2018-105390