Alfonso Buil

Population-based Risk of Psychiatric Disorders Associated with Recurrent CNVs

The paper estimates population-based risks of psychiatric disorders associated with 34 recurrent CNVs using a large case-cohort sample, finding moderate risks for ADHD, autism, and schizophrenia, but not depression.

PA-FGRS is a novel estimator of pedigree-based genetic liability that complements genotype-based inferences into the genetic architecture of major depressive disorder

The paper introduces PA-FGRS, a method to estimate genetic liability from family records, and shows it improves MDD classification and GWAS power when combined with genotypes.

Genome-wide association study of school grades identifies a genetic overlap between language ability, psychopathology and creativity

This study identifies genetic overlaps between psychiatric disorders, language ability, and creativity through a GWAS of school grades.

Cross-trait assortative mating is widespread and inflates genetic correlation estimates

This paper shows that cross-trait assortative mating explains genetic correlations between traits, suggesting many reported genetic similarities may be overestimated.

Mendelian randomization study of spermine oxidase and cancer risk

This study uses Mendelian randomization to test if SMOX levels causally affect cancer risk, finding no significant association with six cancer types.

Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes

This study identifies seven new genetic loci associated with febrile seizures, linking them to fever response and neuronal excitability genes, and suggests potential clinical applications of polygenic risk scores.

Changes in the gene expression profile during spontaneous migraine attacks

The paper investigates gene expression changes during spontaneous migraine attacks and identifies differentially expressed genes and pathways associated with migraine pathophysiology.

The effect of statistical normalisation on network propagation scores

This paper evaluates the impact of statistical normalization on diffusion scores in network propagation, showing that normalization reduces topological bias and improves performance in certain scenarios.

Genetic factors underlying the bidirectional relationship between autoimmune and mental disorders - findings from a Danish population-based study

This study identifies a bidirectional association between autoimmune and mental disorders using Danish population data and finds HLA loci linked to autoimmune diseases but not mental disorders.

Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort

The paper quantifies age-related changes in gene expression levels, splicing, and variance across tissues and identifies environmental and genetic influences on these changes in a twin cohort.

Mapping eQTLs With RNA-Seq Reveals Novel SLE Susceptibility Genes, Non-Coding RNAs, and Alternative-Splicing Events That Are Concealed Using Microarrays

This study uses RNA-Seq and GWAS-eQTL integration to identify novel SLE susceptibility genes, non-coding RNAs, and splicing events not detectable by microarrays.

Transcriptome Sequencing Reveals Widespread Gene-Gene and Gene-Environment Interactions

The paper uses RNA-seq and twin data to quantify gene-gene and gene-environment interactions affecting allelic specific expression.