Fuki Marie Hisama

机构：University of California, Irvine, University of California, Irvine Medical Center · ORCID：0000-0001-7772-7855

发表论文 197 篇 · 总被引 9256 次 · h-index 40

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)
• Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition (2025 · Nature Genetics · 被引 40)
• Bi-allelic variants in INTS11 are associated with a complex neurological disorder (2023 · The American Journal of Human Genetics · 被引 40)
• SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia (2022 · Brain · 被引 38)
• Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases (2022 · Journal of Medical Genetics · 被引 27)
• HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder (2023 · The American Journal of Human Genetics · 被引 22)