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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

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Title: Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
Authors: van Loggerenberg W; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada., Sowlati-Hashjin S; Institute Biomedical Engineering, University of Toronto, Toronto, ON M5S 3G9, Canada., Weile J; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada., Hamilton R; Advanced Academic Programs, Johns Hopkins University, Washington, DC 20036, USA., Chawla A; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada., Sheykhkarimli D; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada., Gebbia M; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada., Kishore N; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada., Frésard L; Invitae Corp, San Francisco, CA 94103, USA., Mustajoki S; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland., Pischik E; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland., Di Pierro E; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Unit of Medicine and Metabolic Diseases, 20122 Milano, Italy., Barbaro M; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, 17176 Stockholm, Sweden., Floderus Y; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, 17176 Stockholm, Sweden., Schmitt C; Centre français des porphyries, hôpital Louis-Mourier, Assistance Publique-Hopitaux de Paris, 92701 Colombes, France; Centre de recherche sur l'inflammation, Université Paris Cité, UMR1149 INSERM, 75018 Paris, France., Gouya L; Centre français des porphyries, hôpital Louis-Mourier, Assistance Publique-Hopitaux de Paris, 92701 Colombes, France; Centre de recherche sur l'inflammation, Université Paris Cité, UMR1149 INSERM, 75018 Paris, France., Colavin A; Invitae Corp, San Francisco, CA 94103, USA., Nussbaum R; Invitae Corp, San Francisco, CA 94103, USA., Friesema ECH; Porphyria Expertcenter Rotterdam, Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus MC, 3015 Rotterdam, the Netherlands., Kauppinen R; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland., To-Figueras J; Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, University of Barcelona, 08036 Barcelona, Spain., Aarsand AK; Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, 5021 Bergen, Norway., Desnick RJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Garton M; Institute Biomedical Engineering, University of Toronto, Toronto, ON M5S 3G9, Canada. Electronic address: michael.garton@utoronto.ca., Roth FP; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada. Electronic address: fritz.roth@utoronto.ca.
Source: American journal of human genetics [Am J Hum Genet] 2023 Oct 05; Vol. 110 (10), pp. 1769-1786. Date of Electronic Publication: 2023 Sep 19.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
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  Data: <searchLink fieldCode="AU" term="%22van+Loggerenberg+W%22">van Loggerenberg W</searchLink>; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada.<br /><searchLink fieldCode="AU" term="%22Sowlati-Hashjin+S%22">Sowlati-Hashjin S</searchLink>; Institute Biomedical Engineering, University of Toronto, Toronto, ON M5S 3G9, Canada.<br /><searchLink fieldCode="AU" term="%22Weile+J%22">Weile J</searchLink>; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada.<br /><searchLink fieldCode="AU" term="%22Hamilton+R%22">Hamilton R</searchLink>; Advanced Academic Programs, Johns Hopkins University, Washington, DC 20036, USA.<br /><searchLink fieldCode="AU" term="%22Chawla+A%22">Chawla A</searchLink>; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.<br /><searchLink fieldCode="AU" term="%22Sheykhkarimli+D%22">Sheykhkarimli D</searchLink>; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.<br /><searchLink fieldCode="AU" term="%22Gebbia+M%22">Gebbia M</searchLink>; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.<br /><searchLink fieldCode="AU" term="%22Kishore+N%22">Kishore N</searchLink>; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.<br /><searchLink fieldCode="AU" term="%22Frésard+L%22">Frésard L</searchLink>; Invitae Corp, San Francisco, CA 94103, USA.<br /><searchLink fieldCode="AU" term="%22Mustajoki+S%22">Mustajoki S</searchLink>; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Pischik+E%22">Pischik E</searchLink>; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Di+Pierro+E%22">Di Pierro E</searchLink>; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Unit of Medicine and Metabolic Diseases, 20122 Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Barbaro+M%22">Barbaro M</searchLink>; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, 17176 Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Floderus+Y%22">Floderus Y</searchLink>; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, 17176 Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Schmitt+C%22">Schmitt C</searchLink>; Centre français des porphyries, hôpital Louis-Mourier, Assistance Publique-Hopitaux de Paris, 92701 Colombes, France; Centre de recherche sur l'inflammation, Université Paris Cité, UMR1149 INSERM, 75018 Paris, France.<br /><searchLink fieldCode="AU" term="%22Gouya+L%22">Gouya L</searchLink>; Centre français des porphyries, hôpital Louis-Mourier, Assistance Publique-Hopitaux de Paris, 92701 Colombes, France; Centre de recherche sur l'inflammation, Université Paris Cité, UMR1149 INSERM, 75018 Paris, France.<br /><searchLink fieldCode="AU" term="%22Colavin+A%22">Colavin A</searchLink>; Invitae Corp, San Francisco, CA 94103, USA.<br /><searchLink fieldCode="AU" term="%22Nussbaum+R%22">Nussbaum R</searchLink>; Invitae Corp, San Francisco, CA 94103, USA.<br /><searchLink fieldCode="AU" term="%22Friesema+ECH%22">Friesema ECH</searchLink>; Porphyria Expertcenter Rotterdam, Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus MC, 3015 Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kauppinen+R%22">Kauppinen R</searchLink>; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22To-Figueras+J%22">To-Figueras J</searchLink>; Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, University of Barcelona, 08036 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Aarsand+AK%22">Aarsand AK</searchLink>; Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, 5021 Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Desnick+RJ%22">Desnick RJ</searchLink>; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.<br /><searchLink fieldCode="AU" term="%22Garton+M%22">Garton M</searchLink>; Institute Biomedical Engineering, University of Toronto, Toronto, ON M5S 3G9, Canada. Electronic address: michael.garton@utoronto.ca.<br /><searchLink fieldCode="AU" term="%22Roth+FP%22">Roth FP</searchLink>; Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada. Electronic address: fritz.roth@utoronto.ca.
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