Tobias Bartolomaeus

Re-evaluation and Re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 20%

The paper re-analyzes 152 exomes from developmental disorder families five years later, finding 20% clinically relevant changes and reclassifying variants.

A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2

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.

Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion

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.

Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain

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

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

The paper evaluates negative exome sequencing in neurodevelopmental disorders by systematically scoring candidate genes to improve prioritization and validation.