NEIL J. RISCH

The paper develops a standardized case-level categorization metric for genomic results across the CSER2 consortium to assess diagnostic yield and identify resolvable factors in inconclusive cases.

The paper identifies a pathogenic splice site variant in DEGS1 causing aberrant splicing and loss of enzyme activity in individuals with HLD18.

This study quantifies how patient-level factors and site-level practices affect diagnostic yield in exome and genome sequencing across five clinical sites.

The paper investigates why the 9p21.3 CAD risk locus fails to replicate in African ancestry cohorts, finding ancestry-specific LD and haplotype diversity explain the lack of association.

The paper investigates reduced penetrance of predicted loss-of-function variants using electronic health records and finds residual allelic activity may explain incomplete loss-of-function.

The paper identifies genes regulating blood pressure by analyzing enhancer variants and integrating epigenomic data with genotype-phenotype associations across multiple tissues.

The study finds no association between diagnostic yield of exome sequencing and genetic ancestry in a diverse pediatric and prenatal cohort.

The paper reports exome sequencing findings in bipolar disorder, identifying AKAP11 as a shared risk gene with schizophrenia through ultra-rare protein-truncating variants.

This study identifies six novel genetic loci, including two rare variants, and shows that a polygenic risk score strongly predicts prostate cancer risk.

The paper identifies putative cis-regulatory elements associated with blood pressure traits using open chromatin and gene expression data, and identifies several candidate genes for further functional testing.

The paper analyzes genomic diversity in Latin American population isolates, finding increased genetic diversity and consanguinity compared to the Finnish isolate.

This study identifies genetic risk loci for narcolepsy, showing enrichment in immune cells and suggesting autoimmune modulation via T cell receptor chains and influenza-A infection.

The paper analyzes genome-wide SNP data to assess Sephardic ancestry in Iberian Peninsula populations and surrounding regions, finding evidence of recent Sephardic admixture and challenges in ancestry assignment.