Génome
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
de Haan HG et al.
Genome-Wide Association Study Identifies a Novel Genetic Risk Factor for Recurrent Venous Thrombosis
Circulation: Genomic and Precision Medicine 2018 11(2
doi: 10.1161/circgen.117.001827
Geoffroy V et al.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Human Mutation 2018 39(7)
doi: 10.1002/humu.23539
Girard E et al.
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
International Journal of Cancer 2018 144(8)
doi: 10.1002/ijc.31921
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