Nelson B. Freimer

The paper identifies a founder variant in ADAP1 associated with increased risk of schizophrenia and bipolar disorder in a Colombian genetic isolate.

Ultra-rare damaging coding variants in 87,959 schizophrenia cases and 150,587 controls implicate 40 genes (16 exome-wide, 24 at 5% FDR), half overlapping autism, developmental delay or bipolar genes.

The paper maps gene expression and chromatin accessibility QTLs in fibroblasts from European and Latin American ancestries, finding high concordance and shared regulatory mechanisms.

The paper shows that European GWAS findings for serious mental illness and cognition are portable to an admixed Latin American population, associating genetic risk scores with multiple symptoms and cognitive traits.

This study identifies distinct rare de novo coding variants associated with Tourette Syndrome, highlighting loss-of-function mutations and novel candidate genes.

This study identifies genetic risk loci and factors underlying clinical subtypes of bipolar disorder using GWAS and meta-analysis.

The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.

The paper identifies genetically distinct patient subgroups across diseases by analyzing polygenic risk and pathway convergence.

The paper uses brain cell-type-specific protein interactomes to interpret genetic data in schizophrenia and identifies enriched networks and genes associated with the disease.

The paper identifies genetic variants in the UCP1 gene region associated with solar irradiance and precipitation rather than cold temperatures in savanna monkeys.

A genome-wide association study of 69,369 schizophrenia cases and 236,642 controls identifies 270 risk loci, prioritizes 130 genes, and links common and rare risk variants to neuronal synaptic biology.

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

This study identifies 303 novel genetic signals associated with plasma metabolites in Finnish men, revealing biological insights into disease mechanisms.

This study identifies sex-dependent genetic risk loci shared and specific to mood and psychotic disorders using genome-wide interaction analysis.

The paper develops DNA methylation-based age estimators for vervet monkeys and shows evolutionary conservation of epigenetic aging in primates.

This paper identifies potential nootropic drug targets by integrating large-scale cognitive GWAS and transcriptomic data to find credible druggable genes.

Meta-analysis of 41,917 European-ancestry bipolar disorder cases versus 371,549 controls yields 64 risk loci (33 novel), neuronal and synaptic gene enrichment, and 15 eQTL-prioritized genes.

The paper compares ten polygenic score methods for psychiatric disorders across multiple cohorts, finding that some methods significantly improve prediction statistics over the baseline PC+T method.

This study identifies 31 genome-wide significant associations between structural variations and cardiometabolic traits in Finns, including two novel loci with strong phenotypic effects.

This study identifies gene sets associated with Tourette Syndrome using genome-wide data, highlighting synaptic and immune-related pathways.

The paper investigates how diagnosis and symptom domains affect cognitive performance in a case-control study of severe mental illness, finding distinct cognitive profiles linked to specific symptom domains.

This study examines genetic risk for bipolar disorder in extended families, finding that both common and rare variants contribute to susceptibility, with no significant segregation of large-effect variants.

ForestQC improves variant quality control by combining filtering and machine learning, outperforming existing methods on whole-genome sequencing datasets.

This study identifies 73 genome-wide significant loci for mood disorders, revealing shared and distinct genetic factors between major depressive disorder and bipolar disorder.

The paper identifies homozygous protein-truncating variants in vervet monkeys using whole genome sequencing and explores their potential impact on early infant mortality.

The paper uses pleiotropic meta-analysis to identify genetic loci associated with cognition, education, and schizophrenia, revealing distinct biological mechanisms for concordant and discordant genetic correlations.

This study identifies 30 genome-wide significant loci associated with bipolar disorder, including novel genes involved in ion channels, neurotransmitters, and synaptic components.

The paper conducts GWAS and PheWAS on plasma lipid species to identify genetic associations and their links to diseases beyond traditional lipid measures.