Portmann, Thomas

MicroRNA-mediated conversion of human fibroblasts to neurons

Yoo, A. S., Sun, A. X., Li, L., Shcheglovitov, A., Portmann, T., Li, Y., Lee-Messer, C., Dolmetsch, R. E., Tsien, R. W., & Crabtree, G. R. (2011) · Nature

Pluripotent Stem Cells ResearchNeurogenesis and neuroplasticity mechanisms

Cited by 989

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

Paşca, S. P., Portmann, T., Voineagu, I., Yazawa, M., Shcheglovitov, A., Paşca, A. M., Cord, B., Palmer, T. D., Chikahisa, S., Nishino, S., et al. (2011) · Nature Medicine

Pluripotent Stem Cells ResearchGenetics and Neurodevelopmental Disorders

Cited by 585

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

Shcheglovitov, A., Shcheglovitova, O., Yazawa, M., Portmann, T., Shu, R., Sebastiano, V., Krawisz, A., Froehlich, W., Bernstein, J. A., Hallmayer, J. F., et al. (2013) · Nature

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 470

Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome

Portmann, T., Yang, M., Mao, R., Panagiotakos, G., Ellegood, J., Dolen, G., Bader, P. L., Grueter, B. A., Goold, C., Fisher, E., et al. (2014) · Cell Reports

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 245

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

Sun, Y., Paşca, S. P., Portmann, T., Goold, C., Worringer, K. A., Guan, W., Chan, K. C., Gai, H., Vogt, D., Chen, Y.-J. J., et al. (2016) · eLife

Epilepsy research and treatmentIon channel regulation and function

Cited by 141

16p11.2 deletion syndrome mice display sensory and ultrasonic vocalization deficits during social interactions

Yang, M., Mahrt, E. J., Lewis, F., Foley, G., Portmann, T., Dolmetsch, R. E., Portfors, C. V., & Crawley, J. N. (2015) · Autism Research

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 96