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A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.
Richter F, Rutherford KD, Cooke AJ, Meshkati M, Eddy-Abrams V, Greene D, Kosowsky J, Park Y, Aggarwal S, Burke RJ, Chang W, Connors J, Giannone PJ, Hays T, Khattar D, Polak M, Senaldi L, Smith-Raska M, Sridhar S, Steiner L, Swanson JR, Tauber KA, Barbosa M, Guttmann KF, Turro E. Richter F, et al. Among authors: rutherford kd. Am J Kidney Dis. 2024 Jan 10:S0272-6386(24)00010-6. doi: 10.1053/j.ajkd.2023.12.011. Online ahead of print. Am J Kidney Dis. 2024. PMID: 38211685
Revised fission yeast gene and allele nomenclature guidelines for machine readability.
Lera-Ramírez M, Bähler J, Mata J, Rutherford K, Hoffman CS, Lambert S, Oliferenko S, Martin SG, Gould KL, Du LL, Sabatinos SA, Forsburg SL, Nielsen O, Nurse P, Wood V. Lera-Ramírez M, et al. Among authors: rutherford k. Genetics. 2023 Nov 1;225(3):iyad143. doi: 10.1093/genetics/iyad143. Genetics. 2023. PMID: 37758508 Free PMC article.
Rapid identification of Salmonella serovars Enteritidis and Typhimurium using whole cell matrix assisted laser desorption ionization - Time of flight mass spectrometry (MALDI-TOF MS) coupled with multivariate analysis and artificial intelligence.
Gao A, Fischer-Jenssen J, Slavic D, Rutherford K, Lippert S, Wilson E, Chen S, Leon-Velarde CG, Martos P. Gao A, et al. Among authors: rutherford k. J Microbiol Methods. 2023 Oct;213:106827. doi: 10.1016/j.mimet.2023.106827. Epub 2023 Sep 23. J Microbiol Methods. 2023. PMID: 37748653
181 results