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JCI Insight|December 7, 2018
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemiaIrini Manoli, Justin R Sysol, Madeline W Epping, et al.Cell Reports|April 23, 2024
Mapping of susceptibility loci for Ebola virus pathogenesis in miceAlexandra Schäfer, Andrea Marzi, Wakako Furuyama, et al.Circulation|November 27, 2019
Unlocking the Secrets of Mitochondria in the Cardiovascular System: Path to a Cure in Heart Failure—A Report from the 2018 National Heart, Lung, and Blood Institute WorkshopRong Tian, Wilson S. Colucci, Zoltan Arany, et al.American Journal of Medical Genetics. Part A|February 14, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndromeYuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.American Journal of Human Genetics|July 16, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromesDmitrijs Rots, Sanaa Choufani, Victor Faundes, et al.Pageof 23