Charles R. Farber

This study uses genetics-guided targeted mass spectrometry to detect protein isoforms associated with bone mineral density, confirming their expression in clinical samples.

The paper uses single-cell transcriptomics in mice to identify cell type-specific networks and prioritize genes associated with human bone mineral density GWAS findings.

The paper identifies target genes and regulatory networks for bone mineral density GWAS loci using STING-seq, linking noncoding variants to gene function in osteoblasts.

This study uses base editing to correct the SCN8A R1872W mutation in mice, reducing seizures and improving survival and comorbidities.

This paper connects disease-associated splicing QTLs to protein isoform effects using long-read RNA-seq and GWAS data in osteoblasts.

This study examines how genetic diversity affects multi-scale cortical bone traits in two mouse populations, finding significant heritability and hybrid phenotypes in outbred mice.

The paper evaluates a scalable approach using scRNA-seq to generate cell-type specific transcriptomic profiles of mesenchymal lineage cells from mouse bone marrow-derived stromal cells.

The paper identifies 512 potentially causal genes for bone mineral density using TWAS and eQTL colocalization, with PPP6R3 validated in mice.

The paper shows genetic differences affect bone loss in mice under unloading, with specific strains showing greater bone volume and strength loss.

The paper uses Diversity Outbred mice to analyze bone traits and identify novel genes associated with bone strength, informing human GWAS findings.

The paper identifies 58 long non-coding RNAs potentially responsible for BMD GWAS associations by combining allelic imbalance, TWAS, and eQTL colocalization analyses.

The paper identifies a core gene module for bone mineral density by integrating co-expression networks and GWAS data, revealing four novel causal genes.

The paper identifies Zbtb40 as a regulator of osteoblast activity and bone mass through genetic analysis in mice, showing reduced BMD and mineralization upon Zbtb40 knockdown.

The paper uses high-resolution imaging and QTL analysis to study genetic control of bone microarchitecture in mice, identifying 50 candidate genes with potential roles in bone biology.

The paper uses single-cell RNA sequencing to analyze maternal-fetal interface cell types and identifies sex-specific differences in immune cell function and regulatory pathways.

This study identifies Lhfp as a regulator of bone mass through GWAS and systems genetics in mice, showing its role in osteoblast differentiation and increased BMD.

RACER is a visualization tool that creates mirror plots to compare two genetic associations, aiding in the identification of pleiotropy.