Erik A. Sistermans

The paper develops a machine learning method to infer DNase1L3 activity from cfDNA fragmentomics, identifying R206C homozygotes with high accuracy and detecting downstream effects of DNase1L3 impairment.

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

The paper develops an isogenic cell line model to study the effects of the DNASE1L3 p.Arg206Cys variant on cell-free DNA fragmentation and shows how wildtype DNASE1L3 can enrich for mononucleosomal fragments.

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

This study identifies a common variant in DNASE1L3 that significantly affects cfDNA properties and impacts the accuracy of non-invasive prenatal testing.

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 examines how assortative mating and parental genetic relatedness influence the pathogenicity of variably expressive variants in neurodevelopmental disorders.

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 shows that rare secondary mutations in functionally intolerant genes affect the expressivity of neurodevelopmental disorders in individuals with primary mutations.