Caswell, Richard

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

Martins Custodio, H., Clayton, L. M., Bellampalli, R., Pagni, S., Silvennoinen, K., Caswell, R., Genomics England Research Consortium, Ambrose, J. C., Arumugam, P., Bevers, R., et al. (2023) · Brain

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 62

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

Ellard, S., Kivuva, E., Turnpenny, P., Stals, K., Johnson, M., Xie, W., Caswell, R., & Lango Allen, H. (2015) · European Journal of Human Genetics

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 59

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Hamilton, M. J., Caswell, R. C., Canham, N., Cole, T., Firth, H. V., Foulds, N., Heimdal, K., Hobson, E., Houge, G., Joss, S., et al. (2018) · Journal of Medical Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 43

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction

De Franco, E., Caswell, R., Johnson, M. B., Wakeling, M. N., Zung, A., Dũng, V. C., Bích Ngọc, C. T., Goonetilleke, R., Vivanco Jury, M., El-Khateeb, M., et al. (2020) · Diabetes

Diabetes and associated disordersPancreatic function and diabetes

Cited by 39

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Muir, A. M., Gardner, J. F., van Jaarsveld, R. H., de Lange, I. M., van der Smagt, J. J., Wilson, G. N., Dubbs, H., Goldberg, E. M., Zitano, L., Bupp, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 35