Genome
Le Guennec K et al.
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient
Journal of Alzheimers Disease 2018 62(2)
doi: 10.3233/jad-170981
Mary L et al.
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
European Journal of Human Genetics 2018 26(7)
doi: 10.1038/s41431-018-0096-4
Pierron D et al.
Strong selection during the last millennium for African ancestry in the admixed population of Madagascar
Nature Communications 2018 9(1)
doi: 10.1038/s41467-018-03342-5
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