Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies

Autor: Yauy, K., Baux, D., Pegeot, H., Van Goethem, C., Mathieu, C., Guignard, T., Morales, R. Juntas, Lacourt, D., Krahn, Martin, Lektokari, V., Bonne, G., Tuffery-Giraud, S., Koenig, M., Cossee, M.

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 2019, 27 (1), pp.339. ⟨10.1038/s41431-019-0404-7⟩
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (1), pp.339. ⟨10.1038/s41431-019-0404-7⟩

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, JUN 16-19, 2018

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9e34ce3babb38d7e54040a4edcd86a5a
https://amu.hal.science/hal-02461436

The effect of pressure on phase selection during nucleation in undercooled bismuth.

Autor: Yoon, W., Paik, J. S., LaCourt, D., Perepezko, J. H.

Publikováno v: Journal of Applied Physics; 11/15/1986, Vol. 60 Issue 10, p3489, 6p, 2 Diagrams, 8 Graphs

P.329 - Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases

Autor: Lacourt, D., Yauy, K., Walther-Louvier, U., Juntas-Morales, R., Cances, C., Espil, C., Sole, G., Arné-Bes, M., Cintas, P., Uro-coste, E., Negrier, M. Martin, Rigau, V., Bieth, E., Goizet, C., Koenig, M., Rivier, F., Cossée, M.

Publikováno v: In Neuromuscular Disorders October 2017 27 Supplement 2:S195-S195

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