Maximilian Radtke

altAFplotter detects uniparental disomies in NGS data by analyzing runs of homozygosity and variant inheritance ratios, providing a web tool for reliable UPD analysis.

This study evaluates the accuracy of next-generation sequencing in capturing allele frequencies for polygenic risk score loci in breast cancer, finding significant deviations affecting risk prediction.

The paper identifies a novel syndrome caused by the gain-of-function variant p.Glu1099Lys in NSD2, leading to distinct clinical features compared to loss-of-function variants.

The paper identifies altered gene expression patterns in 15q13.3 microdeletion carriers, showing dysregulation of genes involved in brain development and contributing to phenotypic variability.

CNV-ClinViewer provides a web tool for clinical interpretation of large copy-number variants by integrating patient and population data with biomedical annotations.

The paper describes the prenatal phenotype of PNKP-related primary microcephaly and characterizes the effects of variants using RNA analysis and structural modeling.

This study shows that early exome sequencing in a German cohort of 111 individuals with rare neurodevelopmental disorders reduces diagnostic costs and time by avoiding unnecessary tests.

The paper identifies intrasplicing events in the human transcriptome and shows their regulatory impact on intron removal and gene expression.