Borut Peterlin

This study identifies structural variants in male infertility using optical genome mapping, finding rare variants in 25% of patients that may contribute to infertility.

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

This study evaluates optical genome mapping (OGM) as an alternative to Southern blot for diagnosing facioscapulohumeral muscular dystrophy (FSHD), showing concordance and identifying additional genetic variants in some cases.

This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.