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Science Translational Medicine|July 29, 2016
Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1Raymond D Hickey, Shennen A Mao, Jaime Glorioso, et al.American Journal of Human Genetics|December 2, 2019
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal DysfunctionJulia Wang, Justine Rousseau, Emily Kim, et al.Immunity|November 5, 2013
Anthracyclines induce DNA damage response-mediated protection against severe sepsisNuno Figueiredo, Angelo Chora, Helena Raquel, et al.Med (New York, N.Y.)|April 15, 2023
The DNA methylome of human vascular endothelium and its use in liquid biopsiesAyelet Peretz, Netanel Loyfer, Sheina Piyanzin, et al.Human Mutation|July 12, 2016
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular CarcinomaPatrick R Blackburn, Raymond D Hickey, Rebecca A Nace, et al.Human Molecular Genetics|February 2, 2011
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypesShawna M Pyott, Ulrike Schwarze, Helena E Christiansen, et al.Gastroenterology|February 19, 2013
Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiencyKenneth D R Setchell, James E Heubi, Sohela Shah, et al.Cell Reports|September 14, 2022
Human hepatocyte PNPLA3-148M exacerbates rapid non-alcoholic fatty liver disease development in chimeric miceMohammad Kabbani, Eleftherios Michailidis, Sandra Steensels, et al.Proceedings of the National Academy of Sciences of the United States of America|March 16, 2016
Identification of tissue-specific cell death using methylation patterns of circulating DNARoni Lehmann-Werman, Daniel Neiman, Hai Zemmour, et al.Journal of Lipid Research|February 22, 2005
A comprehensive classification system for lipidsEoin Fahy, Shankar Subramaniam, H Alex Brown, et al.Pageof 31