Catherine Schramm

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

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

Penetrance estimation of SORL1 loss-of-function variants using a family-based strategy adjusted on APOE genotypes suggest a non-monogenic inheritance

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.

Neuropsychiatric mutations delineate functional brain connectivity dimensions contributing to autism and schizophrenia

The paper examines how CNVs in 16p11.2 and 22q11.2 affect functional brain connectivity in neuropsychiatric disorders, identifying shared dysconnectivity patterns across ASD, SZ, and deletions.

Effects-sizes of deletions and duplications on autism risk across the genome

The paper estimates the effect sizes of deletions and duplications on autism risk and IQ using statistical models applied to CNV data from multiple cohorts.

Neuropsychiatric copy number variants exert shared effects on human brain structure

The paper examines the effects of neuropsychiatric CNVs on brain structure using neuroimaging data and identifies shared anatomical patterns across multiple CNVs.

Genome wide analysis of gene dosage in 24,092 individuals shows that 10,000 genes modulate cognitive ability

The paper quantifies the effect of copy number variants on cognitive ability using genomic data from 24,092 individuals, finding that 10,000 genes modulate intelligence.