2018

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

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

Busato F et al.
Quantitative DNA Methylation Analysis at Single-Nucleotide Resolution by Pyrosequencing®
Springer New York 2017
doi: 10.1007/978-1-4939-7481-8_22

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

Ceyzériat K et al.
Modulation of astrocyte reactivity improves functional deficits in mouse models of Alzheimer's disease
Acta Neuropathologica Communications 2018 6(1)
doi: 10.1186/s40478-018-0606-1

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

Czimmerer Z et al.
The Transcription Factor STAT6 Mediates Direct Repression of Inflammatory Enhancers and Limits Activation of Alternatively Polarized Macrophages
Immunity 2018 48(1)
doi: 10.1016/j.immuni.2017.12.010