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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
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  Data: A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.
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  Data: <searchLink fieldCode="AU" term="%22Richter+F%22">Richter F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rutherford+KD%22">Rutherford KD</searchLink>; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.<br /><searchLink fieldCode="AU" term="%22Cooke+AJ%22">Cooke AJ</searchLink>; Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.<br /><searchLink fieldCode="AU" term="%22Meshkati+M%22">Meshkati M</searchLink>; Division of Newborn Medicine, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York.<br /><searchLink fieldCode="AU" term="%22Eddy-Abrams+V%22">Eddy-Abrams V</searchLink>; Division of Newborn Medicine, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York.<br /><searchLink fieldCode="AU" term="%22Greene+D%22">Greene D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kosowsky+J%22">Kosowsky J</searchLink>; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.<br /><searchLink fieldCode="AU" term="%22Park+Y%22">Park Y</searchLink>; Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.<br /><searchLink fieldCode="AU" term="%22Aggarwal+S%22">Aggarwal S</searchLink>; Division of Neonatology, Department of Pediatrics, Stony Brook Children's Hospital, New York, New York.<br /><searchLink fieldCode="AU" term="%22Burke+RJ%22">Burke RJ</searchLink>; Department of Pediatrics, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Chang+W%22">Chang W</searchLink>; Department of Neonatology, Pediatrics, East Carolina University, Greenville, North Carolina.<br /><searchLink fieldCode="AU" term="%22Connors+J%22">Connors J</searchLink>; Division of Neonatology, The Children's Hospital at Montefiore, Bronx, New York.<br /><searchLink fieldCode="AU" term="%22Giannone+PJ%22">Giannone PJ</searchLink>; Division of Neonatology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky.<br /><searchLink fieldCode="AU" term="%22Hays+T%22">Hays T</searchLink>; Division of Neonatology, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Khattar+D%22">Khattar D</searchLink>; Division of Neonatology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky.<br /><searchLink fieldCode="AU" term="%22Polak+M%22">Polak M</searchLink>; Department of Pediatrics, Division of Neonatology, West Virginia University School of Medicine, Morgantown, West Virginia.<br /><searchLink fieldCode="AU" term="%22Senaldi+L%22">Senaldi L</searchLink>; Division of Newborn Medicine, Department of Pediatrics, Weill Cornell Medicine, New York-Presbyterian Hospital, New York, New York.<br /><searchLink fieldCode="AU" term="%22Smith-Raska+M%22">Smith-Raska M</searchLink>; Division of Newborn Medicine, Department of Pediatrics, Weill Cornell Medicine, New York-Presbyterian Hospital, New York, New York.<br /><searchLink fieldCode="AU" term="%22Sridhar+S%22">Sridhar S</searchLink>; Division of Neonatology, Department of Pediatrics, Stony Brook Children's Hospital, New York, New York.<br /><searchLink fieldCode="AU" term="%22Steiner+L%22">Steiner L</searchLink>; Department of Pediatrics, University of Rochester, Rochester, New York.<br /><searchLink fieldCode="AU" term="%22Swanson+JR%22">Swanson JR</searchLink>; Division of Neonatology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.<br /><searchLink fieldCode="AU" term="%22Tauber+KA%22">Tauber KA</searchLink>; Department of Pediatrics, Albany Medical Center, Albany, New York.<br /><searchLink fieldCode="AU" term="%22Barbosa+M%22">Barbosa M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Guttmann+KF%22">Guttmann KF</searchLink>; Division of Newborn Medicine, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York.<br /><searchLink fieldCode="AU" term="%22Turro+E%22">Turro E</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%228110075%22">American journal of kidney diseases : the official journal of the National Kidney Foundation</searchLink> [Am J Kidney Dis] 2024 Jun; Vol. 83 (6), pp. 829-833. <i>Date of Electronic Publication: </i>2024 Jan 10.
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