Synopsis of recent research by authors named "Peter Miny"
- Peter Miny's recent research focuses on the genetic basis of neurodevelopmental disorders (NDDs) and prenatal testing advancements, revealing pathogenic variants in chromatin remodeling proteins like SMARCA1 linked to NDDs and exploring the implications of expanded cell-free DNA testing for rare chromosomal anomalies.
- His work highlights the evolving role of genomics in prenatal diagnosis, emphasizing improvements in non-invasive prenatal testing (NIPT) and comprehensive carrier screening that aid in identifying risks for common trisomies and other fetal anomalies.
- Additionally, he has contributed to expanding the understanding of phenotypic variance in disorders such as Strømme Syndrome and Rothmund-Thomson Syndrome, providing insights into their genetic underpinnings and associated phenotypes through studies utilizing exome sequencing and analyzing rare genetic variants.
