Fassihi, Hiva

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

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Fassihi, H., Sethi, M., Fawcett, H., Wing, J., Chandler, N., Mohammed, S., Craythorne, E., Morley, A. M. S., Lim, R., Turner, S., et al. (2016) · Proceedings of the National Academy of Sciences

DNA Repair MechanismsGenetic and rare skin diseases.

Cited by 199

Ectodermal dysplasia–skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1

Ersoy-Evans, S., Erkin, G., Fassihi, H., Chan, I., Paller, A. S., Sürücü, S., & McGrath, J. A. (2006) · Journal of the American Academy of Dermatology

Skin and Cellular Biology ResearchGenetic and rare skin diseases.

Cited by 48