Lauren C. Briere
机构：Massachusetts General Hospital · ORCID：0000-0002-6599-2907
发表论文 110 篇 · 总被引 3161 次 · h-index 32
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 41)
- A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024 · The American Journal of Human Genetics · 被引 15)
- An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 13)
- De novo variants in DENND5B cause a neurodevelopmental disorder (2024 · The American Journal of Human Genetics · 被引 11)
- Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability (2024 · The American Journal of Human Genetics · 被引 8)
- Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability (2024 · Proceedings of the National Academy of Sciences · 被引 7)