ZFIN ID: ZDB-PERS-140716-1
Baas, Frank
Email: f.baas@amc.uva.nl
URL:
Affiliation: Baas Lab
Address: Meibergdreef 9, 1105AZ, Amsterdam, The Netherlands
Country: Netherlands
Phone: +31-205663846
Fax: +31-205669312
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
Weterman, M.A.J., Kuo, M., Kenter, S.B., Gordillo, S., Karjosukarso, D.W., Takase, R., Bronk, M., Oprescu, S., Ruissen, F., Witteveen, R.J.W., Bienfait, H.M.E., Breuning, M., Verhamme, C., Hou, Y.M., Visser, M., Antonellis, A., Baas, F. (2018) Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. Human molecular genetics. 27(23):4036-4050
Marin-Valencia, I., Gerondopoulos, A., Zaki, M.S., Ben-Omran, T., Almureikhi, M., Demir, E., Guemez-Gamboa, A., Gregor, A., Issa, M.Y., Appelhof, B., Roosing, S., Musaev, D., Rosti, B., Wirth, S., Stanley, V., Baas, F., Barr, F.A., Gleeson, J.G. (2017) Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. American journal of human genetics. 101(3):441-450
Lardelli, R.M., Schaffer, A.E., Eggens, V.R., Zaki, M.S., Grainger, S., Sathe, S., Van Nostrand, E.L., Schlachetzki, Z., Rosti, B., Akizu, N., Scott, E., Silhavy, J.L., Heckman, L.D., Rosti, R.O., Dikoglu, E., Gregor, A., Guemez-Gamboa, A., Musaev, D., Mande, R., Widjaja, A., Shaw, T.L., Markmiller, S., Marin-Valencia, I., Davies, J.H., de Meirleir, L., Kayserili, H., Altunoglu, U., Freckmann, M.L., Warwick, L., Chitayat, D., Blaser, S., Çağlayan, A.O., Bilguvar, K., Per, H., Fagerberg, C., Christesen, H.T., Kibaek, M., Aldinger, K.A., Manchester, D., Matsumoto, N., Muramatsu, K., Saitsu, H., Shiina, M., Ogata, K., Foulds, N., Dobyns, W.B., Chi, N.C., Traver, D., Spaccini, L., Bova, S.M., Gabriel, S.B., Gunel, M., Valente, E.M., Nassogne, M.C., Bennett, E.J., Yeo, G.W., Baas, F., Lykke-Andersen, J., Gleeson, J.G. (2017) Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics. 49(3):457-464
Schaffer, A.E., Eggens, V.R., Caglayan, A.O., Reuter, M.S., Scott, E., Coufal, N.G., Silhavy, J.L., Xue, Y., Kayserili, H., Yasuno, K., Rosti, R.O., Abdellateef, M., Caglar, C., Kasher, P.R., Cazemier, J.L., Weterman, M.A., Cantagrel, V., Cai, N., Zweier, C., Altunoglu, U., Satkin, N.B., Aktar, F., Tuysuz, B., Yalcinkaya, C., Caksen, H., Bilguvar, K., Fu, X.D., Trotta, C.R., Gabriel, S., Reis, A., Gunel, M., Baas, F., Gleeson, J.G. (2014) CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration. Cell. 157:651-63

NON-ZEBRAFISH PUBLICATIONS