PRINCIPALES RÉALISATIONS
Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein. Kim A, Le Douce J, Diab F, Dubourg C, Odent S, Dupé V, David V, Diambra L, Watrin E, de Tayrac M. Brain. 2020 Jul.
Disrupted brain development in association with reduced sonic hedgehog signalling underlies the pathogenesis of NOTCH-deficiency. Hamdi-Rozé H, Ware M, Guyodo H, Rizzo A, Ratié L, Rupin M, Carré W, Kim A, Odent S, Dubourg C, David V, de Tayrac M, Dupé V. J Clin Endocrinol Metab. 2020 Sep.
Integrated Clinical and Omics Approach to Rare Diseases : Novel Genes and Oligogenic Inheritance in Holoprosencephaly. Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Le Douce J, Frex Consortium, GoNL Consortium, Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute 0, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Brain. 2019 Jan.