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A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.

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Title: A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
Authors: Mo A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Paz-Ebstein E; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Yanovsky-Dagan S; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel., Lai A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA., Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Gilboa T; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Pediatric Neurology Unit, Hadassah Medical Center, Jerusalem, Israel., Yang E; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts, USA., Shao DD; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Walsh CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA., Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Source: Clinical genetics [Clin Genet] 2023 Jul; Vol. 104 (1), pp. 73-80. Date of Electronic Publication: 2023 Apr 02.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
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  Data: <searchLink fieldCode="AU" term="%22Mo+A%22">Mo A</searchLink>; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Paz-Ebstein+E%22">Paz-Ebstein E</searchLink>; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Yanovsky-Dagan+S%22">Yanovsky-Dagan S</searchLink>; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Lai+A%22">Lai A</searchLink>; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Mor-Shaked+H%22">Mor-Shaked H</searchLink>; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Gilboa+T%22">Gilboa T</searchLink>; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Pediatric Neurology Unit, Hadassah Medical Center, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Yang+E%22">Yang E</searchLink>; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Shao+DD%22">Shao DD</searchLink>; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Walsh+CA%22">Walsh CA</searchLink>; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Harel+T%22">Harel T</searchLink>; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2023 Jul; Vol. 104 (1), pp. 73-80. <i>Date of Electronic Publication: </i>2023 Apr 02.
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  Data: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1111/cge.14335
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        Text: English
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      – TitleFull: A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
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              Text: 2023 Jul
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              Y: 2023
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