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Cell Metabolism|April 19, 2023
FALCON systematically interrogates free fatty acid biology and identifies a novel mediator of lipotoxicityNicolas Wieder, Juliana Coraor Fried, Choah Kim, et al.Nature Medicine|May 29, 2020
The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.Nature|July 19, 2023
An atlas of healthy and injured cell states and niches in the human kidneyBlue B Lake, Rajasree Menon, Seth Winfree, et al.Science Translational Medicine|January 22, 2016
Quantifying prion disease penetrance using large population control cohortsEric Vallabh Minikel, Sonia M Vallabh, Monkol Lek, et al.Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.Pageof 4