R Myers

The paper shows that freshwater threespine stickleback fish have evolved expanded copies of the MYH3C gene family, which is linked to muscle development and adaptive divergence from marine populations.

The paper identifies cell type-specific regulatory elements in nine mammals and shows their conservation and association with neuropsychiatric and neurodegenerative disease risks.

The paper identifies hsa-miR-206 as a sensitive and specific plasma biomarker for ALS using small-RNA sequencing and machine learning, validated by ddPCR in an independent cohort.

The paper introduces a standardized iPSC-derived microglia model to study transcriptional regulatory networks in CNS diseases and identifies disease-associated genetic variants.

The paper generates a single-cell ISR atlas in a mouse model of persistent ISR activation, identifying cell-type-specific ISR programs and their roles in cognitive decline.

The paper identifies cell type-specific and shared chromatin-associated protein co-association modules using ChIP-Seq and machine learning in K562 and HepG2 cells.

The paper identifies DNA variants with allele bias in TF binding across human brain regions, linking them to eQTLs and providing insights into gene regulation effects of common and rare variation.

The paper generates a multi-omic resource of TF binding maps in human brain tissues and links TF activities to neuropsychiatric disorder risk variants.

DegCre associates differential gene expression with regulatory regions using probabilistic correlation analysis across perturbation data.

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

The paper analyzes genomic data from early-onset and atypical dementia patients to show that both rare and common genetic variations contribute to dementia risk.

The paper identifies cis-regulatory elements (cCREs) controlling MAPT expression and links genetic variation in these elements to Alzheimer's disease risk.

The paper introduces the EN-TEx resource, which provides personal epigenomes and variant-impact models across multiple tissues, revealing allele-specific loci and their associations with GWAS loci.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

This paper conducts a multi-ancestry GWAS meta-analysis of suicide attempt, identifying 12 genome-wide significant loci and finding shared genetic risks with ADHD, smoking, and risk tolerance.

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 analyzes the seven-chain adaptive immune receptor repertoire in rheumatoid arthritis, identifying disease associations and treatment response markers through immunosequencing and HLA integration.

This study identifies genetic loci associated with suicide attempts and shows shared genetic architecture with psychiatric disorders and non-psychiatric risk factors.

The paper shows that MPRA data exhibit strand asymmetry favoring naturally transcribed strands, suggesting biological functions driving this effect across gene bodies and Alu elements.

This study identifies a non-coding variant in SCN1A that causes aberrant inclusion of a poison exon, leading to reduced Nav1.1 expression and Dravet syndrome in a mouse model.

This study identifies a PEA15 mutation in domestic cats causing lissencephaly and cerebral malformations, revealing a role for PEA15 in gyrencephalic brain development.

The paper uses CRISPR screens to identify co-repressor complexes as mediators of drug resistance in pancreatic cancer by regulating epithelial-to-mesenchymal transition.

The paper identifies and characterizes HOT loci with high DAP associations, finds driver motifs, and shows their regulatory importance through mutagenesis.

The paper identifies rare variants in TET2 associated with early-onset Alzheimer's disease and frontotemporal dementia, highlighting both coding and non-coding variants as risk factors.

Genome sequencing for early-onset dementia identified genetic variants in 50% of patients, including pathogenic variants and moderate penetrance alleles, supporting an oligogenic model.

The paper analyzes miRNA expression dynamics across mouse embryonic development, identifying tissue-specific clusters and their regulatory roles.

The paper introduces MAD-DASH, a CRISPR/Cas9-based method to remove adapter dimers and highly expressed smRNAs from small RNA sequencing libraries, improving quantification of low-abundance species.