Kerstin U. Ludwig

This study conducts GWAS on orofacial cleft subtypes, identifying 27 genome-wide significant regions, including novel loci, and highlights genetic heterogeneity and homogeneity across subtypes.

This study finds that paternal exposure to ionizing radiation increases clustered de novo mutations in offspring, suggesting cDNMs as a transgenerational biomarker.

The paper introduces AlphScore, a pathogenicity prediction score for missense variants using AlphaFold2-derived features, showing improved performance when combined with existing scores.

The paper develops a machine learning model to predict COVID-19 severity using exonic variants from whole exome sequencing data, finding that variants across all frequency categories contribute to severity.

This study examines how a major genetic risk factor for COVID-19 affects mortality and severity, finding stronger effects in younger adults.

LAMP-Seq combines three-step isothermal RT-LAMP amplification with combinatorial barcoding to pool and sequence SARS-CoV-2 clinical samples en masse for scalable diagnostics.

This study investigates whether genetic liability to non-syndromic cleft lip/palate influences educational attainment and intelligence, finding little evidence of shared genetic causation.

The paper conducts a GWAS to identify genetic variants associated with a cognitive predictor of dyslexia, finding significant associations with variants near MIR924HG and NKAIN3.

The paper identifies three loci where genetic liability to non-syndromic cleft lip/palate may be mediated by DNA methylation variation in blood and tissue.

The paper investigates genetic overlap between non-syndromic cleft lip/palate and facial morphology using polygenic risk scores and Mendelian randomization, finding a causal relationship with philtrum width.