Femke H. Bouwman

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.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

The paper examines how structural connectivity changes relate to cholinergic cell density in the nucleus basalis of Meynert in Alzheimer's disease, finding specific associations in amnestic cases.

The paper examines the independent associations of PET, CSF, and plasma tau biomarkers with Alzheimer's disease markers, finding that CSF and plasma p-tau181/p-tau217 are more linked to early AD markers, while tau-PET is strongly associated with cognitive and neurodegenerative progression.

The paper finds that patient features differentially predict amyloid-β status based on PET or CSF, with variations by disease stage, suggesting PET and CSF discordance provides unique information.