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De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.

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Title: De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.
Authors: Villamor-Payà M; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain.; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA., Sanchiz-Calvo M; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain., Smak J; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA., Pais L; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Sud M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Shankavaram U; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA., Lovgren AK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA 02115, USA., Gay M; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain., Vilaseca M; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain., Arauz-Garofalo G; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain., Palenzuela L; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain., VanNoy G; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., O'Donnell-Luria A; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Stracker TH; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain.; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA.
Source: IScience [iScience] 2024 May 18; Vol. 27 (6), pp. 109984. Date of Electronic Publication: 2024 May 18 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.
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  Data: <searchLink fieldCode="AU" term="%22Villamor-Payà+M%22">Villamor-Payà M</searchLink>; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain.; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Sanchiz-Calvo+M%22">Sanchiz-Calvo M</searchLink>; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Smak+J%22">Smak J</searchLink>; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Pais+L%22">Pais L</searchLink>; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Sud+M%22">Sud M</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Shankavaram+U%22">Shankavaram U</searchLink>; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Lovgren+AK%22">Lovgren AK</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Austin-Tse+C%22">Austin-Tse C</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Gay+M%22">Gay M</searchLink>; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Vilaseca+M%22">Vilaseca M</searchLink>; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Arauz-Garofalo+G%22">Arauz-Garofalo G</searchLink>; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Palenzuela+L%22">Palenzuela L</searchLink>; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22VanNoy+G%22">VanNoy G</searchLink>; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22Stracker+TH%22">Stracker TH</searchLink>; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain.; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA.
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  Data: <searchLink fieldCode="JN" term="%22101724038%22">IScience</searchLink> [iScience] 2024 May 18; Vol. 27 (6), pp. 109984. <i>Date of Electronic Publication: </i>2024 May 18 (<i>Print Publication: </i>2024).
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