Laura Keehan

机构：Stanford Medicine, Stanford University · ORCID：0009-0005-3084-679X

发表论文 19 篇 · 总被引 295 次 · h-index 8

代表论文

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions (2023 · The American Journal of Human Genetics · 被引 125)
Small Retinoprotective Peptides Reveal a Receptor-binding Region on Pigment Epithelium-derived Factor (2015 · Journal of Biological Chemistry · 被引 42)
The Rac-GEF Tiam1 Promotes Dendrite and Synapse Stabilization of Dentate Granule Cells and Restricts Hippocampal-Dependent Memory Functions (2020 · Journal of Neuroscience · 被引 41)
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome (2021 · American Journal of Medical Genetics Part A · 被引 17)
GREGoR: accelerating genomics for rare diseases (2025 · Nature · 被引 15)
Diagnostic abnormalities, disease severity and immunotherapy responsiveness in individuals with Down syndrome regression disorder (2024 · Scientific Reports · 被引 12)