Snape, Katie

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

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

Sukalo, M., Tilsen, F., Kayserili, H., Müller, D., Tüysüz, B., Ruddy, D. M., Wakeling, E., Ørstavik, K. H., Snape, K. M., Trembath, R., et al. (2015) · Human Mutation

Congenital limb and hand anomaliesGenomics and Rare Diseases

Cited by 50

The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2

Philpott, S., Raikou, M., Manchanda, R., Lockley, M., Singh, N., Scott, M., Evans, D. G., Adlard, J., Ahmed, M., Edmondson, R., et al. (2023) · Journal of Medical Genetics

BRCA gene mutations in cancerOvarian cancer diagnosis and treatment

Cited by 19

Availability of benign missense variant ‘truthsets’ for validation of functional assays: current status and a systematic approach

Rowlands, C. F., Allen, S., Garrett, A., Durkie, M., Burghel, G. J., Robinson, R., Callaway, A., Field, J., Frugtniet, B., Palmer-Smith, S., et al. (2025) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 6