Alison M. Muir

机构：GenVec · ORCID：0000-0002-9420-085X

发表论文 41 篇 · 总被引 1797 次 · h-index 23

代表论文

• ATP1A2- and ATP1A3- associated early profound epileptic encephalopathy and polymicrogyria (2021 · Brain · 被引 67)
• Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders (2019 · Nature Communications · 被引 65)
• NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns (2020 · Genetics in Medicine · 被引 56)
• Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy (2022 · Brain · 被引 44)
• Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome (2022 · The American Journal of Human Genetics · 被引 43)
• Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia (2021 · Genetics in Medicine · 被引 36)