Non-invasive exome sequencing to improve prenatal diagnostics presented at the ACMG Annual Meeting
Michael gave a platform presentation on the lab’s work on non-invasive fetal exome sequencing using cell-free DNA at the [...]
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
The structural variations (SVs) in the non-coding region of 5q14.3 near a gene called MEF2C — a transcription factor, has [...]
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
In this study, we conducted in-depth analyses to evaluate the power of different sequencing technologies, including long-read and short-read whole [...]
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
Recurrent and reciprocal copy number variations (CNVs) pose a substantial risk for neurodevelopmental and neuropsychiatric disorders. One example of such [...]