Anna Bican

发表论文 57 篇 · 总被引 2061 次 · h-index 26

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)
• Bi-allelic variants in INTS11 are associated with a complex neurological disorder (2023 · The American Journal of Human Genetics · 被引 39)
• SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia (2023 · Brain · 被引 36)
• TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system (2023 · Proceedings of the National Academy of Sciences · 被引 31)
• 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)
• Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment (2023 · npj Genomic Medicine · 被引 18)