Lambertus Klei

This study identifies three functional programs impacted by autism genes, contextualized across neuronal subclasses, developmental timing, and cortical regions.

The paper maps the proteomic changes in midbrain dopamine axons during postnatal development, identifying temporal dynamics of protein expression and linking them to disease risk.

PAQu estimates protein isoform abundances using multiomic data, outperforming existing methods and revealing increased C4A isoform levels in schizophrenia.

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

The paper develops a model to analyze X-linked rare variation in ASD, identifying 9 genes associated with ASD and explaining how X-linked variation could contribute to sex-differential prevalence.

The paper introduces a framework to infer de novo exonic variants without parental genotypes, enhancing autism association studies by improving gene-based tests and controlling false discovery rates.

This study examines RNA expression in thalamic nuclei of OCD patients and controls, finding minimal differential expression despite previous findings in other brain regions.

This study examines how the PACS1 p.R203W variant affects the proteomic landscape of brain organoids, identifying dysregulated proteins and processes linked to neurodevelopmental disorders.

This paper identifies 35 genome-wide significant ASD risk genes in admixed Latin American populations, showing consistency with European cohorts and supporting the universality of ASD biology.

This paper improves the portability and fairness of polygenic scores by introducing Joint-Lassosum, which outperforms existing methods in diverse ancestries.

The paper re-analyzes RNA sequencing data comparing gene expression in living and postmortem human brain tissue, finding that living samples had lower quality, and questions the validity of previous conclusions about postmortem studies.

The paper identifies population-level variation in enhancer expression in the human brain and links enhancer eQTL to schizophrenia heritability.

The paper identifies differentially expressed transcripts in OCD patients' striatum and OFC, showing enrichment for synapse-associated genes and changes in cell type fractions.

This paper performs a large-scale eQTL meta-analysis across cerebral cortical and cerebellar brain regions, identifying distinct eQTL patterns and demonstrating improved power over existing studies.

The paper assesses functional connectome fingerprinting accuracy in youths and adults across same-day and 1.5-year intervals, finding similar performance between age groups but reduced accuracy over time.

The paper functionally annotates rare structural variants in the human brain by integrating SV calling with RNA-seq data to assess their regulatory effects and prioritize pathogenic deletions.

The paper uses whole-genome and RNA sequencing from the human prefrontal cortex to identify genetic variants and transcriptomic changes associated with neurodevelopment and neuropsychiatric disorders.

This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

This study examines the role of noncoding variation in autism spectrum disorder using whole genome sequencing of 2,076 genomes, finding no significant association after correction for multiple testing.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

SOUP, a semi-soft clustering method, identifies pure and transitional cell types from single-cell gene expression data by first detecting pure cells and then estimating membership matrices.

The paper analyzes allelic expression bias in schizophrenia using RNA-seq data to assess imprinted gene expression and its relationship with age, ancestry, and disease.