Taylor, Jenny C.

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

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Ibañez, K., Polke, J., Hagelstrom, R. T., Dolzhenko, E., Pasko, D., Thomas, E. R. A., Daugherty, L. C., Kasperaviciute, D., Smith, K. R., McDonagh, E. M., et al. (2022) · The Lancet Neurology

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 187

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Balestrini, S., Milh, M., Castiglioni, C., Lüthy, K., Finelli, M. J., Verstreken, P., Cardon, A., Stražišar, B. G., Holder, J. L., Lesca, G., et al. (2016) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 124

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

Ormondroyd, E., Mackley, M. P., Blair, E., Craft, J., Knight, J. C., Taylor, J. C., Taylor, J., & Watkins, H. (2018) · Genetics in Medicine

Genomics and Rare DiseasesMedical and Health Sciences Research

Cited by 70

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

Davies, B., Brown, L. A., Cais, O., Watson, J., Clayton, A. J., Chang, V. T., Biggs, D., Preece, C., Hernandez-Pliego, P., Krohn, J., et al. (2017) · Human Molecular Genetics

Sleep and Wakefulness ResearchCircadian rhythm and melatonin

Cited by 48