Lopez, E., Berenguer, M., Tingaud-Sequeira, A., Marlin, S., Toutain, A., Denoyelle, F., Picard, A., Charron, S., Mathieu, G., de Belvalet, H., Arveiler, B., Babin, P.J., Lacombe, D., Rooryck, C. (2016) Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.. Journal of Medical Genetics. 53(11):752-760
|
Tingaud-Sequeira, A., Trimouille, A., Marlin, S., Lopez, E., Berenguer, M., Gherbi, S., Arveiler, B., Lacombe, D., Rooryck, C. (2020) Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS. Molecular genetics & genomic medicine. 8(10):e1375
|
Tingaud-Sequeira, A., Trimouille, A., Salaria, M., Stapleton, R., Claverol, S., Plaisant, C., Bonneu, M., Lopez, E., Arveiler, B., Lacombe, D., Rooryck, C. (2021) A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum. Human genetics. 140(6):933-944
|
Wang, Y., Ping, L., Luan, X., Chen, Y., Fan, X., Li, L., Liu, Y., Wang, P., Zhang, S., Zhang, B., Chen, X. (2020) A Mutation in VWA1, Encoding von Willebrand Factor A Domain-Containing Protein 1, Is Associated With Hemifacial Microsomia. Frontiers in cell and developmental biology. 8:571004
|