Ashley Andrews

机构：University of Utah · ORCID：0000-0001-7032-4594

发表论文 82 篇 · 总被引 1220 次 · h-index 21

代表论文

• Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy (2022 · Neurology · 被引 43)
• 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)
• 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)
• 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)
• Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment (2023 · npj Genomic Medicine · 被引 19)