Marc Joel Abramowicz

This study shows ASPM mutations disrupt mitotic spindle orientation in human cortical progenitors, leading to premature oRGC generation and reduced cortical progenitor numbers.

SwissGenVar is a platform for sharing and interpreting genetic variants to improve clinical decision-making in Switzerland by harmonizing variant significance assessment and integrating clinical data.

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

This study identifies heterozygous RFX6 protein truncating variants as a cause of MODY with reduced penetrance, using genetic analysis and cohort comparisons.

DiGeST provides a distributed computing framework for scalable genetic association studies, demonstrating scalability and ease of use with exome data from the 1000 Genomes Project.