| 2023 |
Tuckerman, J., Harper, K., Sullivan, T. R., Cuthbert, A. R., Fereday, J., Couper, J., . . . Marshall, H. S. (2023). Short Message Service Reminder Nudge for Parents and Influenza Vaccination Uptake in Children and Adolescents With Special Risk Medical Conditions: The Flutext-4U Randomized Clinical Trial.. JAMA Pediatr, 177(4), 337-344.
DOI Scopus15 WoS16 Europe PMC14 |
| 2022 |
El Chehadeh, S., Han, K. A., Kim, D., Jang, G., Bakhtiari, S., Lim, D., . . . Um, J. W. (2022). SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.. Nature Communications, 13(1), 4112-1-4112-19.
DOI Scopus15 WoS14 Europe PMC15 |
| 2022 |
Kayumi, S., Pérez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., . . . Corbett, M. A. (2022). Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genetics in Medicine, 24(11), 2351-2366.
DOI Scopus34 WoS36 Europe PMC30 |
| 2021 |
Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., . . . Kruer, M. C. (2021). Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.. Nat Genet, 53(3), 412.
DOI Scopus2 WoS1 Europe PMC1 |
| 2021 |
van Eyk, C. L., Webber, D. L., Minoche, A. E., Pérez-Jurado, L. A., Corbett, M. A., Gardner, A. E., . . . Gecz, J. (2021). Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. npj Genomic Medicine, 6(1), 74-1-74-11.
DOI Scopus27 WoS28 Europe PMC26 |
| 2021 |
Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., . . . Kruer, M. C. (2021). Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. American Journal of Human Genetics, 108(10), 2006-2016.
DOI Scopus17 WoS14 Europe PMC18 |
| 2020 |
Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., . . . Kruer, M. C. (2020). Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature Genetics, 52(10), 1046-1056.
DOI Scopus144 WoS126 Europe PMC110 |
| 2019 |
Corbett, M. A., van Eyk, C. L., Webber, D. L., Bent, S. J., Newman, M., Harper, K., . . . Gecz, J. (2019). Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy (npj Genomic Medicine, (2018), 3, 1, (33), 10.1038/s41525-018-0073-4). Npj Genomic Medicine, 4(1), 1 page.
DOI WoS2 Europe PMC3 |
| 2019 |
van Eyk, C. L., Corbett, M. A., Frank, M. S. B., Webber, D. L., Newman, M., Berry, J. G., . . . Gecz, J. (2019). Targeted resequencing identifies genes with recurrent variation in cerebral palsy. npj Genomic Medicine, 4(1), 27-1-27-11.
DOI Scopus27 WoS23 Europe PMC22 |
| 2018 |
Van Eyk, C., Corbett, M., Gardner, A., Van Bon, B., Broadbent, J., Harper, K., . . . Gecz, J. (2018). Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism. Translational Psychiatry, 8(1), 88 -1-88 -10.
DOI Scopus26 WoS26 Europe PMC23 |
| 2018 |
Corbett, M. A., van Eyk, C. L., Webber, D. L., Bent, S. J., Newman, M., Harper, K., . . . Gecz, J. (2018). Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy. npj Genomic Medicine, 3(1), 33-1-33-9.
DOI Scopus42 WoS36 Europe PMC31 |
