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

Apr 03, 2023

ABOUT THE EXPERTS

  • Alisa Mo

    Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.

    Emuna Paz-Ebstein

    Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.

    Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

    Shira Yanovsky-Dagan

    Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.

    Abbe Lai

    Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Boston, Massachusetts, USA.

    Hagar Mor-Shaked

    Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.

    Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

    Tal Gilboa

    Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

    Pediatric Neurology Unit, Hadassah Medical Center, Jerusalem, Israel.

    Edward Yang

    Department of Radiology, Boston Children’s Hospital, Boston, Massachusetts, USA.

    Diane D Shao

    Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.

    Christopher A Walsh

    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.

    Tamar Harel

    Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.

    Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

REFERENCES & ADDITIONAL READING

PubMed

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