Smith, Janice L.

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay

Burnside, R. D., Pasion, R., Mikhail, F. M., Carroll, A. J., Robin, N. H., Youngs, E. L., Gadi, I. K., Keitges, E., Jaswaney, V. L., Papenhausen, P. R., et al. (2011) · Human Genetics

Genomic variations and chromosomal abnormalitiesGenetic Syndromes and Imprinting

Cited by 257

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 110

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 19