David R. Adams
机构：National Institutes of Health, National Human Genome Research Institute
发表论文 375 篇 · 总被引 16051 次 · h-index 60
代表论文
- Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans (2024 · The Journal of Experimental Medicine · 被引 39)
- Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee (2024 · European Journal of Medical Genetics · 被引 21)
- Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia (2024 · Journal of Clinical Immunology · 被引 16)
- De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders (2024 · medRxiv · 被引 10)
- De novo variants in DENND5B cause a neurodevelopmental disorder (2024 · The American Journal of Human Genetics · 被引 9)
- Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing (2024 · JIMD Reports · 被引 4)