Baheti, Saurabh

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Ioannidis, N. M., Rothstein, J. H., Pejaver, V., Middha, S., McDonnell, S. K., Baheti, S., Musolf, A., Li, Q., Holzinger, E., Karyadi, D., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 2,908

Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

Porath, B., Gainullin, V. G., Cornec-Le Gall, E., Dillinger, E. K., Heyer, C. M., Hopp, K., Edwards, M. E., Madsen, C. D., Mauritz, S. R., Banks, C. J., et al. (2016) · The American Journal of Human Genetics

Genetic and Kidney Cyst DiseasesGlycogen Storage Diseases and Myoclonus

Cited by 475

Genome-wide detection of tandem DNA repeats that are expanded in autism

Trost, B., Engchuan, W., Nguyen, C. M., Thiruvahindrapuram, B., Dolzhenko, E., Backstrom, I., Mirceta, M., Mojarad, B. A., Yin, Y., Dov, A., et al. (2020) · Nature

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 238

Large‐scale deep proteomic analysis in Alzheimer's disease brain regions across race and ethnicity

Seifar, F., Fox, E. J., Shantaraman, A., Liu, Y., Dammer, E. B., Modeste, E., Duong, D. M., Yin, L., Trautwig, A. N., Guo, Q., et al. (2024) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 52