Fry, Andrew

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 615

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., et al. (2017) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 445

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 131

SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

Zaman, T., Helbig, K. L., Clatot, J., Thompson, C. H., Kang, S. K., Stouffs, K., Jansen, A. E., Verstraete, L., Jacquinet, A., Parrini, E., et al. (2020) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 94

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Brock, S., Laquerriere, A., Marguet, F., Myers, S. J., Hongjie, Y., Baralle, D., Vanderhasselt, T., Stouffs, K., Keymolen, K., Kim, S., et al. (2023) · Journal of Medical Genetics

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 12

PSMC5 insufficiency and P320R mutation impair proteasome function

Yu, Z.-Q., Carmichael, J., Collins, G. A., D'Agostino, M. D., Lessard, M., Firth, H. V., Harijan, P., Fry, A. E., Dean, J., Zhang, J., et al. (2024) · Human Molecular Genetics

Ubiquitin and proteasome pathwaysGenetics and Neurodevelopmental Disorders

Cited by 4