Sacharow, Stephanie
Marche Polytechnic University · Boston Children's Hospital · Harvard University · Italian Institute of Technology
2 papers on CoChatORCID 0000-0001-5249-5840
Most cited papers
- Verified
De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder
Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics
Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways
Cited by 110
- Verified
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis
Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., McDonald, K., Baker, J., Bhambhani, V., et al. (2022) · Brain
ATP Synthase and ATPases ResearchGenetics and Neurodevelopmental Disorders
Cited by 34
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