Julian Schröter

Latest

• aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
• Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
• aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
• Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency
• Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
• Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder
• Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
• Refining genotypes and phenotypes in KCNA2-related neurological disorders
• Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1
• Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1