Diego R. Mazzotti

This study shows that a favorable lifestyle reduces ADRD risk even in individuals with high polygenic risk, but APOE ε4 genotype remains a strong risk factor.

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

The paper identifies GPI-anchor biosynthesis as a conserved regulator of sleep through variant-to-gene mapping and cross-species genetic screening in humans and model organisms.

The paper identifies conserved genes at insomnia GWAS loci using zebrafish CRISPR screens and chromatin interaction data, finding that MEIS1 and SKIV2L mutations produce insomnia-like behaviors.

The paper identifies genetic variants associated with obstructive sleep apnea using electronic health records and links them to comorbidities.

The paper identifies a SNP in the HOMER1 gene associated with sleep latency and theta power in sleep EEG in a Brazilian population.

The paper identifies clinically relevant genetic dysfunction in ASD risk genes by analyzing whole-exome data from 2,381 individuals, finding associations between specific variants and cognitive symptoms.

This study identifies 47 genetic associations with sleep traits using accelerometer data from 85,670 individuals, including novel variants for sleep quality and duration.

This study identifies 351 new genetic loci associated with chronotype using data from 697,828 individuals and links them to circadian biology and disease.