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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. 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
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Greene D; Genomics England Research Consortium; Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys BL, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E. Greene D, et al. Nat Med. 2023 Mar;29(3):679-688. doi: 10.1038/s41591-023-02211-z. Epub 2023 Mar 16. Nat Med. 2023. PMID: 36928819 Free PMC article.