David Wallon

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 estimates the penetrance of SORL1 loss-of-function variants in Alzheimer's disease using a family-based survival model adjusted for APOE genotypes, finding high penetrance only in APOE-ε4ε4 carriers.

The paper shows that trisomy 21 cerebral organoids exhibit AD-like pathology, which can be suppressed by BACE2 trisomy and inhibited by BACE1 inhibitors, suggesting BACE2 as an AD-suppressor gene.

This study performs a large GWAS of Alzheimer's disease, identifies four new risk loci, and highlights pathways involving immunity, lipid metabolism, and APP/Aβ processing.