Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans.

Autor: Fletcher SC; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Hall C; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Kennedy TJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Pajusalu S; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Wojcik MH; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Boora U; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Li C; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Oja KT; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Hendrix E; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Westrip CA; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Andrijes R; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Piasecka SK; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Singh M; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., El-Asrag ME; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Faculty of Science, Benha University, Benha, Egypt., Ptasinska A; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Tillmann V; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Higgs MR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Carere DA; GeneDx, Gaithersburg, Maryland, USA., Beggs AD; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Langone Medical Center, New York, New York, USA., Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Langone Medical Center, New York, New York, USA., Smerdon SJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Coleman ML; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2023 Apr 03; Vol. 133 (7). Date of Electronic Publication: 2023 Apr 03.