Alicia Ljungdahl

2 months ago | digitalcommons.library.tmc.edu | Yuyang Chen |Ruebena Dawes |Hyung Chul Kim |Alicia Ljungdahl

KeywordsAdolescent, Child, Child, Preschool, Female, Humans, Infant, Male, Young Adult, Alleles, Brain, Heterozygote, Mutation, Neurodevelopmental Disorders, RNA Splice Sites, RNA, Small Nuclear, Spliceosomes, Syndrome, Rare Diseases, Gene Expression Regulation, DevelopmentalAbstractAround 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1.

May 22, 2024 | cell.com | Dina Silva |Marena Trinidad |Alicia Ljungdahl

SummaryHeterozygous variants in SLC6A1, encoding the GAT-1 GABA transporter, are associated with seizures, developmental delay, and autism. The majority of affected individuals carry missense variants, many of which are recurrent germline de novo mutations, raising the possibility of gain-of-function or dominant-negative effects. To understand the functional consequences, we performed an in vitro GABA uptake assay for 213 unique variants, including 24 control variants.

Sep 13, 2023 | cell.com | Stephan Sanders |Alicia Ljungdahl

AbstractTechnological advances have enabled high-throughput omics assays, such as parallelized screening of lipids across plasma samples. Pioneering a new paradigm for neuropsychiatric biomarker discovery, Yap et al. describe a large-scale systematic analysis of comprehensive phenotypic, genotypic, environmental, and lipidomic data to unravel the intricate interplay between these and autism-associated traits.