Tosso Leeb

This study identifies SUV39H1 variants in dogs with a new skin disorder, linking SUV39H1 deficiency to epidermal hyperkeratosis and highlighting its role in keratinocyte differentiation.

This study assesses the reproducibility of pathogenicity classification using the animal variant classification guidelines across three species, finding 65% reproducibility for pathogenicity and 83% clinically relevant agreement.

The paper identifies a recessive lethal allele in reintroduced lynx populations linked to organ mineralization, showing how inbreeding and founder effects drive its frequency increase.

This paper identifies a missense variant in the PAOX gene as the cause of juvenile-onset polyneuropathy in American Staffordshire Terriers, highlighting its potential as a model for human Charcot-Marie-Tooth disease.

The paper analyzes ancestry and selection in Bengal cats using sequencing data to identify genetic factors underlying coat color traits.

The paper improves the equine transcriptome annotation using long-read RNA sequencing, achieving 45% better completeness and enhanced identification of alternative splicing and noncoding genes.

The paper identifies regulatory modules controlling dog color patterns and shows their evolutionary origin in extinct canids.

The paper presents an improved long-read assembly of the dog reference genome, significantly enhancing contiguity and gene annotation.

The paper identifies two COL5A1 mutations in dogs with EDS-like symptoms, confirming a genetic basis for the condition and demonstrating the utility of DNA sequencing in diagnosis.

The paper identifies a single nucleotide deletion in the F9 gene promoter of a Hovawart family causing hemophilia B resembling human hemophilia B Leyden, with reduced factor IX expression and altered transcription factor binding.

The paper remaps eQTLs in horse PBMCs to a new genome and identifies treatment-induced changes in gene expression regulation.

The paper develops two new SNP arrays for horses, MNEc2M and MNEc670k, and demonstrates their imputation capabilities.

FEELnc annotates long non-coding RNAs and mRNAs in the dog transcriptome, identifying 10,374 novel lncRNAs and 58,640 new mRNA transcripts.

The paper identifies a non-coding copy number variant upstream of TWIST2 that causes a pigmentation trait in belted cattle by affecting melanocyte development.