Barbara N. Pusey

机构：National Institutes of Health, Office of the Director

发表论文 60 篇 · 总被引 5352 次 · h-index 30

代表论文

• Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021 · Genetics in Medicine · 被引 50)
• An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (2020 · Genetics in Medicine · 被引 49)
• 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)
• Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases (2021 · Genetics in Medicine · 被引 34)
• 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)