Alicia Ljungdahl

机构：University of California, San Francisco, University of Oxford, University of San Francisco · ORCID：0000-0002-3742-7003

发表论文 15 篇 · 总被引 869 次 · h-index 6

代表论文

• Rare coding variation provides insight into the genetic architecture and phenotypic context of autism (2022 · Nature Genetics · 被引 644)
• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 128)
• Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism (2021 · medRxiv · 被引 35)
• AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms (2023 · bioRxiv (Cold Spring Harbor Laboratory) · 被引 23)
• Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants (2024 · The American Journal of Human Genetics · 被引 16)
• De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders (2024 · medRxiv · 被引 10)