Génome
Husson T et al.
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing
Translational Psychiatry 2018 8(1)
doi: 10.1038/s41398-018-0291-7
Imbert-Bouteille M et al.
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
European Journal of Medical Genetics 2019 62(3)
doi: 10.1016/j.ejmg.2018.07.003
Jonson PH et al.
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families
European Journal of Neurology 2018 25(5)
doi: 10.1111/ene.13598
Laugel-Haushalter V et al.
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
Frontiers in Physiology 2018 9
doi: 10.3389/fphys.2018.01329
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