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American Journal of Human Genetics|October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentationsIrit Hochberg, Leigh A M Demain, Julie Richer, et al.
Nature Communications|July 2, 2025
Phage therapy with nebulized cocktail BX004-A for chronic Pseudomonas aeruginosa infections in cystic fibrosis: a randomized first-in-human trialIddo Weiner, Maya Kahan-Hanum, Nufar Buchstab, et al.
Epilepsia|April 23, 2025
Updated classification of epileptic seizures: Position paper of the International League Against EpilepsySándor Beniczky, Eugen Trinka, Elaine Wirrell, et al.
Molecular Ecology|December 11, 2023
Population genomic structure of a widespread, urban-dwelling mammal: The eastern grey squirrel (Sciurus carolinensis)Nicole A Fusco, Bradley J Cosentino, James P Gibbs, et al.
Annals of Neurology|November 7, 2025
Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body DiseaseMarios Gavrielatos, Michael G Heckman, Alexandra I Soto-Beasley, et al.
Neuroimage|June 4, 2013
The CONNECT project: Combining macro- and micro-structureYaniv Assaf, Daniel C Alexander, Derek K Jones, et al.
Science Translational Medicine|May 29, 2020
Brain delivery and activity of a lysosomal enzyme using a blood-brain barrier transport vehicle in miceJulie C Ullman, Annie Arguello, Jennifer A Getz, et al.
JAMA|July 1, 2026
Neonatal Survival After Serial Amnioinfusions for Anhydramnios Due to Fetal Kidney Failure: The RAFT Clinical TrialJena L Miller, Ahmet A Baschat, Anthony Johnson, et al.
Nature|October 22, 2020
Exome sequencing and characterization of 49,960 individuals in the UK BiobankCristopher V Van Hout, Ioanna Tachmazidou, Joshua D Backman, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 5, 2002
Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophreniaIlya Chumakov, Marta Blumenfeld, Oxana Guerassimenko, et al.
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