Rosalina M.L. van Spaendonk

Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variants.

The paper measures soluble SORL1 (sSORL1) in CSF to assess functional impact of rare SORL1 variants, finding lower sSORL1 in carriers of pathogenic variants.

Genetic Testing in patients with Dementia: A Data-Driven Clinical Decision Tree for Memory Clinics

This paper introduces a decision tree to improve the identification of dementia patients with pathogenic genetic variants by optimizing clinical selection criteria for genetic testing.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.