Huu Phuc Nguyen

This study shows that HTT CAA/CCA-loss variants increase toxicity in Huntington disease models independently of somatic repeat instability.

The paper develops URSA, a method to quantify DNA repair activity at the CAG repeat tract in HD, showing it correlates with somatic instability and can be measured rapidly in blood cells.

The paper shows that loss of interruption in HTT CAG repeats increases somatic expansion and MSN loss in HD, with greater effects in patients with CAG-CCG LOI.

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.

This study links polygenic scores for intelligence and educational attainment to brain structure and network efficiency, showing mediation through fiber connectivity and parieto-frontal surface area.

The paper shows H3K9ac increases basal progenitor proliferation and neocortex size by upregulating TRNP1 in evolution.

This study evaluates polygenic scores for intelligence and cognitive performance in a sample of 557 adults, finding they predict different facets of intelligence with varying accuracy.