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Open Access
Peer-reviewed
Research Article
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation
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Amy E. O’Connell,
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Visualization, Writing – original draft
Affiliations Division of Newborn Medicine, Boston Children’s Hospital, Boston, Massachusetts, United States of America, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America
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Maxim V. Gerashchenko,
Roles Investigation
Affiliation Division of Genetics, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Marie-Francoise O’Donohue,
Roles Data curation, Funding acquisition, Investigation, Writing – original draft
Affiliation Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France
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Samantha M. Rosen,
Roles Conceptualization, Data curation, Visualization, Writing – original draft, Writing – review & editing
Affiliations Division of Newborn Medicine, Boston Children’s Hospital, Boston, Massachusetts, United States of America, Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, Massachusetts, United States of America
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Eric Huntzinger,
Roles Funding acquisition, Investigation
Affiliations Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France, Université de Strasbourg, Centre National de La Recherche Scientifique UMR 7104, INSERM U964, Strasbourg, France
⨯ - Diane Gleeson,
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Antonella Galli,
Roles Data curation, Investigation
Affiliation Wellcome Sanger Institute, Cambridge, United Kingdom
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Edward Ryder,
Roles Data curation, Investigation
Affiliation Wellcome Sanger Institute, Cambridge, United Kingdom
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Siqi Cao,
Roles Investigation
Affiliations Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, Massachusetts, United States of America
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Quinn Murphy,
Roles Investigation
Affiliations Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, Massachusetts, United States of America
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Shideh Kazerounian,
Roles Formal analysis, Methodology
Affiliations Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, Massachusetts, United States of America
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Sarah U. Morton,
Roles Formal analysis
Affiliations Division of Newborn Medicine, Boston Children’s Hospital, Boston, Massachusetts, United States of America, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America
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Klaus Schmitz-Abe,
Roles Data curation, Validation
Affiliations Division of Newborn Medicine, Boston Children’s Hospital, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, Massachusetts, United States of America, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America
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Vadim N. Gladyshev,
Roles Funding acquisition, Supervision
Affiliation Division of Genetics, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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Pierre-Emmanuel Gleizes,
Roles Funding acquisition, Supervision
Affiliation Laboratoire de Biologie Moléculaire Eucaryote, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France
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Bertrand Séraphin,
Roles Funding acquisition, Supervision
Affiliations Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France, Université de Strasbourg, Centre National de La Recherche Scientifique UMR 7104, INSERM U964, Strasbourg, France
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Pankaj B. Agrawal
Roles Conceptualization, Data curation, Funding acquisition, Methodology, Project administration, Supervision, Writing – review & editing
* E-mail: pagrawal@enders.tch.harvard.edu
Affiliations Division of Newborn Medicine, Boston Children’s Hospital, Boston, Massachusetts, United States of America, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America, Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, United States of America, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, Massachusetts, United States of America, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America
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Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation
- Amy E. O’Connell,
- Maxim V. Gerashchenko,
- Marie-Francoise O’Donohue,
- Samantha M. Rosen,
- Eric Huntzinger,
- Diane Gleeson,
- Antonella Galli,
- Edward Ryder,
- Siqi Cao,
- Quinn Murphy
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- Published: February 1, 2019
- https://doi.org/10.1371/journal.pgen.1007917