Musante, Luciana

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 965

Germline KRAS mutations cause Noonan syndrome

Schubbert, S., Zenker, M., Rowe, S. L., Böll, S., Klein, C., Bollag, G., van der Burgt, I., Musante, L., Kalscheuer, V., Wehner, L.-E., et al. (2006) · Nature Genetics

Protein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

Cited by 730

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Hartmann, B., Wai, T., Hu, H., MacVicar, T., Musante, L., Fischer-Zirnsak, B., Stenzel, W., Gräf, R., van den Heuvel, L., Ropers, H.-H., et al. (2016) · eLife

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 124