Longman, Cheryl

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

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of -dystroglycan

Longman, C. (2003) · Human Molecular Genetics

Muscle Physiology and DisordersGlycosylation and Glycoproteins Research

Cited by 416

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

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy

Brockington, M., Torelli, S., Prandini, P., Boito, C., Dolatshad, N. F., Longman, C., Brown, S. C., & Muntoni, F. (2005) · Human Molecular Genetics

Muscle Physiology and DisordersGlycosylation and Glycoproteins Research

Cited by 103

A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease

Graham, C. D., Weinman, J., Sadjadi, R., Chalder, T., Petty, R., Hanna, M. G., Turner, C., Parton, M., Maddison, P., Radunovic, A., et al. (2014) · Clinical Rehabilitation

Cancer survivorship and careOptimism, Hope, and Well-being

Cited by 47

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 30