Génome

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.
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

M

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

Bonaventure A et al.
Genetic polymorphisms of Th2 interleukins, history of asthma or eczema and childhood acute lymphoid leukaemia: Findings from the ESCALE study (SFCE)
Cancer Epidemiology 2018
doi: 10.1016/j.canep.2018.05.004

Bonnet E et al.
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples
PLOS ONE 2018 13(4)
doi: 10.1371/journal.pone.0195471

Bourcier R et al.
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
The American Journal of Human Genetics 2018 102(1)
doi: 10.1016/j.ajhg.2017.12.006

Calderaro J et al.
Systemic AA Amyloidosis Caused by Inflammatory Hepatocellular Adenoma
New England Journal of Medicine 2018 379(12)
doi: 10.1056/NEJMc1805673

Coutton C et al.
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
Nature Communications 2018 9(1)
doi: 10.1038/s41467-017-02792-7