Kerstin U. Ludwig

Time-resolved inference of gene regulatory networks underlying human cranial neural crest development suggests novel risk genes for orofacial clefting.

Genetic Heterogeneity and Homogeneity Among Orofacial Cleft Subtypes: Genome-Wide Association Studies in the Cleft Collective

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.

A transgenerational mutational signature from ionizing radiation exposure.

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

Predicting the pathogenicity of missense variants using features derived from AlphaFold2

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

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

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.

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

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

LAMP-Seq: Population-Scale COVID-19 Diagnostics Using Combinatorial Barcoding

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.

Cleft lip/palate and educational attainment: cause, consequence, or correlation? A Mendelian randomization study

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

Genome Wide Association Scan identifies new variants associated with a cognitive predictor of dyslexia.

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.

DNA methylation mediates genetic liability to non-syndromic cleft lip/palate

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.

Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology

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.