A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.

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Title: A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.
Authors: Richter F; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Rutherford KD; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Cooke AJ; Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Meshkati M; Division of Newborn Medicine, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York., Eddy-Abrams V; Division of Newborn Medicine, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York., Greene D; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Kosowsky J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Park Y; Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Aggarwal S; Division of Neonatology, Department of Pediatrics, Stony Brook Children's Hospital, New York, New York., Burke RJ; Department of Pediatrics, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania., Chang W; Department of Neonatology, Pediatrics, East Carolina University, Greenville, North Carolina., Connors J; Division of Neonatology, The Children's Hospital at Montefiore, Bronx, New York., Giannone PJ; Division of Neonatology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky., Hays T; Division of Neonatology, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Khattar D; Division of Neonatology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky., Polak M; Department of Pediatrics, Division of Neonatology, West Virginia University School of Medicine, Morgantown, West Virginia., Senaldi L; Division of Newborn Medicine, Department of Pediatrics, Weill Cornell Medicine, New York-Presbyterian Hospital, New York, New York., Smith-Raska M; Division of Newborn Medicine, Department of Pediatrics, Weill Cornell Medicine, New York-Presbyterian Hospital, New York, New York., Sridhar S; Division of Neonatology, Department of Pediatrics, Stony Brook Children's Hospital, New York, New York., Steiner L; Department of Pediatrics, University of Rochester, Rochester, New York., Swanson JR; Division of Neonatology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia., Tauber KA; Department of Pediatrics, Albany Medical Center, Albany, New York., Barbosa M; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Guttmann KF; Division of Newborn Medicine, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York., Turro E; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address: ernest.turro@mssm.edu.
Source: American journal of kidney diseases : the official journal of the National Kidney Foundation [Am J Kidney Dis] 2024 Jun; Vol. 83 (6), pp. 829-833. Date of Electronic Publication: 2024 Jan 10.
Publication Type: Journal Article; Case Reports; Research Support, N.I.H., Extramural
Journal Info: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 8110075 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-6838 (Electronic) Linking ISSN: 02726386 NLM ISO Abbreviation: Am J Kidney Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1523-6838
DOI:10.1053/j.ajkd.2023.12.011