Marcel M. A. M. Mannens

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for 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.

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.

This study identifies a homozygous ERAL1 mutation as the cause of Perrault syndrome, showing it disrupts mitochondrial ribosome assembly and function.