Shilpa N. Kobren

机构：Harvard University, Stanford University · ORCID：0000-0003-1264-6098

发表论文 56 篇 · 总被引 440 次 · h-index 13

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)
• Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases (2025 · npj Digital Medicine · 被引 31)
• RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci (2024 · Genome biology · 被引 21)
• HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder (2023 · The American Journal of Human Genetics · 被引 21)
• A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024 · The American Journal of Human Genetics · 被引 15)
• Simulation of undiagnosed patients with novel genetic conditions (2023 · Nature Communications · 被引 11)