Génome

Vuillaume ML et al.
Whole genome sequencing identifies a de novo 2.1?Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability
Clinica Chimica Acta 2018 485
doi: 10.1016/j.cca.2018.06.048

Yauy K et al.
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
Genetics in Medicine 2017 20(2)
doi: 10.1038/gim.2017.109

Brucato N et al.
The Comoros Show the Earliest Austronesian Gene Flow into the Swahili Corridor
The American Journal of Human Genetics 2018 102(1)
doi: 10.1016/j.ajhg.2017.11.011

El-Saafin F et al.
Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription
Human Molecular Genetics 2018 27(12)
doi: 10.1093/hmg/ddy126

Janezic S et al.
Comparative Genomics of Clostridium difficile
Springer International Publishing 2018
doi: 10.1007/978-3-319-72799-8_5

Garneau JR et al.
High Prevalence and Genetic Diversity of Large phiCD211 (phiCDIF1296T)-Like Prophages in Clostridioides difficile
Applied and Environmental Microbiology 2017 84(3)
doi: 10.1128/AEM.02164-17

Randrianjatovo-Gbalou I et al.
Enzymatic synthesis of random sequences of RNA and RNA analogues by DNA polymerase theta mutants for the generation of aptamer libraries
Nucleic Acids Research 2018 46(12)
doi: 10.1093/nar/gky413

Plainvert C et al.
A clone of the emergent Streptococcus pyogenes emm89 clade responsible for a large outbreak in a post-surgery oncology unit in France
Medical Microbiology and Immunology 2018 207(5-6)
doi: 10.1007/s00430-018-0546-1

Ates LS et al.
Unexpected Genomic and Phenotypic Diversity of Mycobacterium africanum Lineage 5 Affects Drug Resistance, Protein Secretion, and Immunogenicity
Genome Biology and Evolution 2018 10(8)
doi: 10.1093/gbe/evy145

Weill FX et al.
Genomic insights into the 2016-2017 cholera epidemic in Yemen
Nature 2019 565(7738)
doi: 10.1038/s41586-018-0818-3