Mohammed, Shehla

Mutation of the RAD51C gene in a Fanconi anemia–like disorder

Vaz, F., Hanenberg, H., Schuster, B., Barker, K., Wiek, C., Erven, V., Neveling, K., Endt, D., Kesterton, I., Autore, F., et al. (2010) · Nature Genetics

DNA Repair MechanismsBlood disorders and treatments

Cited by 408

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

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Reijnders, M. R. F., Ansor, N. M., Kousi, M., Yue, W. W., Tan, P. L., Clarkson, K., Clayton-Smith, J., Corning, K., Jones, J. R., Lam, W. W. K., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 168

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Ebstein, F., Küry, S., Most, V., Rosenfelt, C., Scott-Boyer, M.-P., van Woerden, G. M., Besnard, T., Papendorf, J. J., Studencka-Turski, M., Wang, T., et al. (2023) · Science Translational Medicine

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 36