Donkervoort, Sandra

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Deng, H.-X., Chen, W., Hong, S.-T., Boycott, K. M., Gorrie, G. H., Siddique, N., Yang, Y., Fecto, F., Shi, Y., Zhai, H., et al. (2011) · Nature

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 1,174

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Cummings, B. B., Marshall, J. L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A. R., Bolduc, V., Waddell, L. B., Sandaradura, S. A., O’Grady, G. L., et al. (2017) · Science Translational Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 831

The Role of PIEZO2 in Human Mechanosensation

Chesler, A. T., Szczot, M., Bharucha-Goebel, D., Čeko, M., Donkervoort, S., Laubacher, C., Hayes, L. H., Alter, K., Zampieri, C., Stanley, C., et al. (2016) · New England Journal of Medicine

Tactile and Sensory InteractionsIon Channels and Receptors

Cited by 462

An ultrafast system for signaling mechanical pain in human skin

Nagi, S. S., Marshall, A. G., Makdani, A., Jarocka, E., Liljencrantz, J., Ridderström, M., Shaikh, S., O’Neill, F., Saade, D., Donkervoort, S., et al. (2019) · Science Advances

Pain Mechanisms and TreatmentsIon Channels and Receptors

Cited by 140

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Burns, D. T., Donkervoort, S., Müller, J. S., Knierim, E., Bharucha-Goebel, D., Faqeih, E. A., Bell, S. K., AlFaifi, A. Y., Monies, D., Millan, F., et al. (2018) · The American Journal of Human Genetics

RNA Research and SplicingGenomics and Rare Diseases

Cited by 88

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 47

Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

Case, L. K., Liljencrantz, J., Madian, N., Necaise, A., Tubbs, J., McCall, M., Bradson, M. L., Szczot, M., Pitcher, M. H., Ghitani, N., et al. (2021) · Nature Communications

Tactile and Sensory InteractionsIon Channels and Receptors

Cited by 38