Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf
Mapping variant effects on anti-tumor hallmarks of primary human T cells with base-editing screens.
Walsh ZH et al.
Nature Biotechnology, 2025
Massively parallel base editing screens to map variant effects on anti-tumor hallmarks of primary human T cells.
Walsh ZH et al.
Biorxiv : the Preprint Server for Biology, 2023
Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.
Belaid B et al.
Frontiers in Immunology, 2021
Intact B-Cell Signaling and Function With Host B-Cells 47 Years After Transplantation for X-SCID.
Deal C et al.
Frontiers in Immunology, 2020
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.
Puck JM et al.
Human Genetics, 1997
Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.
Feltes BC
Mutation Research. Reviews in Mutation Research, 0
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