Valerie A. Arboleda

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

Truncating ASXL1 variants rewire cellular metabolism via mitochondrial pyruvate carrier repression

This paper shows that truncating ASXL1 variants disrupt mitochondrial pyruvate transport, leading to metabolic changes and Wnt signaling dysregulation in Bohring-Opitz syndrome and myeloid leukemia.

Genetic and transcriptomic determinants of disseminated coccidioidomycosis identify a founder variant in NLRX1 and ancestry-specific rare variants in immune response genes

This study identifies genetic and transcriptomic factors associated with severe coccidioidomycosis, finding a founder variant in NLRX1 linked to African ancestry and increased disease risk.

Systematic evaluation of 24 extraction and library preparation combinations for metagenomic sequencing of SARS-CoV-2 in saliva

The paper evaluates 24 metagenomic sequencing workflows for SARS-CoV-2 detection in saliva, finding that RNA-Seq library preparation has a greater impact on viral read recovery than extraction methods.

Advancing Precision Health Discovery in a Genetically Diverse Health System

The paper analyzes genetic and health record data from a diverse population to uncover gene-phenotype associations and assess polygenic score performance across ancestries.

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

The paper investigates why carriers of pathogenic variants in monogenic metabolic conditions show variable disease severity, finding support for variant effect sizes, polygenic backgrounds, and epistasis.

KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster

This study identifies KAT6A mutations in ARTHS patients and shows their role in epigenetic regulation of the posterior HOXC cluster through chromatin accessibility, histone acetylation, and DNA methylation changes.

KAT6A mutations drive transcriptional dysregulation of cell cycle and Autism risk genes in an Arboleda-Tham Syndrome cerebral organoid model

This study shows KAT6A mutations cause transcriptional dysregulation of cell cycle and autism risk genes in cerebral organoids, leading to delayed neural differentiation and altered gene expression patterns.

Truncating ASXL1 mutations in Bohring-Opitz Syndrome dysregulate canonical and non-canonical Wnt Signaling

The paper identifies how ASXL1 mutations disrupt the epigenome and activate Wnt signaling pathways in Bohring-Opitz syndrome and myeloid leukemias.

Leveraging genomic diversity for discovery in an EHR-linked biobank: the UCLA ATLAS Community Health Initiative

The paper explores the relationship between genomic ancestry and health outcomes using a biobank linked to electronic health records, finding disease stratification across ancestry clusters.

DMRscaler: A Scale-Aware Method to Identify Regions of Differential DNA Methylation Spanning Basepair to Multi-Megabase Features

DMRscaler identifies differential methylation regions across various epigenetic scales in DNA methylation data, outperforming existing methods in accuracy and range.

From Chemoproteomic-Detected Amino Acids to Genomic Coordinates: Insights into Precise Multi-omic Data Integration

This study maps chemoproteomic-detected amino acids to genomic coordinates, revealing that reactive cysteine codons are enriched for deleterious genetic variants.

Rapid cost-effective viral genome sequencing by V-seq

The paper introduces V-seq, a cost-effective method for viral genome sequencing that uses multiplexed RT primers to improve coverage and reduce costs.

Phenotype-specific enrichment of Mendelian disorder genes near GWAS regions across 62 complex traits

The paper quantifies the overlap between GWAS genes for 62 complex traits and Mendelian disorder genes, finding significant enrichment and elevated effect sizes for phenotypically-matched genes.