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Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants
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Clinical/Scientific Note
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Review
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Article
HACE1 deficiency leads to structural and functional neurodevelopmental defects
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Research Article
A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data
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Article
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Views & Reviews
Redefining the phenotype of ALSP and AARS2 mutation–related leukodystrophy
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Article
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