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Showing 1–3 of 3 results
Advanced filters: Author: Pilar Cacheiro Clear advanced filters

  • Discovery of causal variants for monogenic disorders has been facilitated by whole exome and genome sequencing, but does not provide a diagnosis for all patients. Here, the authors propose a Full Spectrum of Intolerance to Loss-of-Function (FUSIL) categorization that integrates gene essentiality information to aid disease gene discovery.

    • Pilar Cacheiro
    • Violeta Muñoz-Fuentes
    • Coleen Kane
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-16

  • This Perspective discusses strategies and challenges for the Molecular Phenotypes of Null Alleles in Cells (MorPhiC) Consortium as it aims to catalogue the molecular and cellular phenotypes associated with null alleles of all human genes.

    • Mazhar Adli
    • Laralynne Przybyla
    • Justina ŽurauskienÄ—
    Reviews
    Nature
    Volume: 638, P: 351-359

  • SPTBN1 mutations cause a neurodevelopmental syndrome characterized by intellectual disability, language and motor delays, autism, seizures and other features. The variants disrupt βII-spectrin function and disturb cytoskeletal organization and dynamics.

    • Margot A. Cousin
    • Blake A. Creighton
    • Damaris N. Lorenzo
    Research
    Nature Genetics
    Volume: 53, P: 1006-1021