Leslie Granger

机构：University Medical Center Utrecht · ORCID：0000-0001-8631-6070

发表论文 10 篇 · 总被引 191 次 · h-index 6

代表论文

• Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction (2021 · The American Journal of Human Genetics · 被引 58)
• Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2023 · Journal of Clinical Investigation · 被引 46)
• ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model (2022 · The American Journal of Human Genetics · 被引 45)
• SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance (2022 · Human Molecular Genetics · 被引 17)
• Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus (2024 · The American Journal of Human Genetics · 被引 10)
• Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction (2020 · bioRxiv (Cold Spring Harbor Laboratory) · 被引 7)