Eva Maria Christina Schwaibold

This study uses optical genome mapping to identify de novo and rare inherited structural variants in 57 patient-parent trios, finding 13 de novo SVs and 11 rare inherited SVs, some of which are pathogenic or candidate disease-causing.

The paper identifies how reduced ribosome levels in neural progenitor cells contribute to neurodevelopmental disorders and shows that mTOR activation can alleviate these defects.

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

The paper shows inherited CHD3 variants cause Snijders Blok-Campeau syndrome with variable expressivity, overlapping with de novo variants' phenotypes, and suggests reduced penetrance is not due to expression compensation.

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

The paper identifies a founder variant in SZT2 associated with neurodevelopmental disorder and develops a method to distinguish pathogenic variants from VUSs in SZT2.

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

This study characterizes SETD1A haploinsufficiency in humans and Drosophila, identifying a novel neurodevelopmental syndrome with cognitive and developmental symptoms.