Simpson, Michael

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

Simpson, M. A., Cross, H., Proukakis, C., Priestman, D. A., Neville, D. C. A., Reinkensmeier, G., Wang, H., Wiznitzer, M., Gurtz, K., Verganelaki, A., et al. (2004) · Nature Genetics

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

Cited by 389

Diagnostic strategies in CADASIL

Markus, H. S., Martin, R. J., Simpson, M. A., Dong, Y. B., Ali, N., Crosby, A. H., & Powell, J. F. (2002) · Neurology

Cerebrovascular and genetic disordersMigraine and Headache Studies

Cited by 335

Systematic Review of Deep Learning Image Analyses for the Diagnosis and Monitoring of Skin Disease

Choy, S. P., Kim, B. J., Paolino, A., Tan, W. R., Lim, S. M. L., Seo, J., Tan, S. P., Francis, L., Tsakok, T., Simpson, M., et al. (2023) · npj Digital Medicine

Cutaneous Melanoma Detection and ManagementDermatology and Skin Diseases

Cited by 105

MAGI2 Mutations Cause Congenital Nephrotic Syndrome

Bierzynska, A., Soderquest, K., Dean, P., Colby, E., Rollason, R., Jones, C., Inward, C. D., McCarthy, H. J., Simpson, M. A., Lord, G. M., et al. (2017) · Journal of the American Society of Nephrology

Renal Diseases and GlomerulopathiesRenal and related cancers

Cited by 82

A genome-wide association study for extremely high intelligence

Zabaneh, D., Krapohl, E., Gaspar, H. A., Curtis, C., Lee, S. H., Patel, H., Newhouse, S., Wu, H. M., Simpson, M. A., Putallaz, M., et al. (2018) · Molecular Psychiatry

Genetic Associations and EpidemiologyCognitive Abilities and Testing

Cited by 71

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 41

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Glasgow, R. I. C., Thompson, K., Barbosa, I. A., He, L., Alston, C. L., Deshpande, C., Simpson, M. A., Morris, A. A. M., Neu, A., Löbel, U., et al. (2017) · neurogenetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 17