There is a genetic component to human obesity that accounts for 40% to 50% of the
variability in body weight status but that is lower among normal weight individuals (about …

A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …

Genetic variants, including single-nucleotide variants (SNVs) and copy number variants
(CNVs), in the non-coding regions of the human genome can play an important role in …

In high-, middle-and low-income countries, the rising prevalence of obesity is the underlying
cause of numerous health complications and increased mortality. Being a complex and …

Increased male prevalence has been repeatedly reported in several neurodevelopmental
disorders (NDs), leading to the concept of a" female protective model." We investigated the …

Psychiatric disorders are among the most intractable enigmas in medicine. In the past 5
years, there has been unprecedented progress on the genetics of many of these conditions …

In a small fraction of patients with schizophrenia or autism, alleles of copy-number variants
(CNVs) in their genomes are probably the strongest factors contributing to the pathogenesis …

Genomic structural variants have long been implicated in phenotypic diversity and human
disease, but dissecting the mechanisms by which they exert their functional impact has …