This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart ...

Our pioneering research in ophthalmology and eye health continued to flourish in 2023-2024, with nearly 450 papers published in internationally renowned peer-reviewed journals. Our research teams, ...

Using whole genome sequencing data from the 100,000 Genomes Project, the researchers discovered 2 small genetic changes in a non-coding region of a gene called TMEM216. This gene is responsible for ...

Runs of homozygosity (ROH) in the human genome may be clinically relevant. The aim of this study was to report the frequency of increased ROH of the autosomal genome in individuals with ...

The ARVO Annual Meeting is the premiere gathering for eye and vision scientists from across the globe, at all career stages, students and those in affiliated fields to share the latest research ...

Researchers have found it to occur in about 1 in 34,000 to 1 in 40,000 people of Ashkenazi Jewish background due to a mutation in the TMEM216 gene. Canadian Hutterites have about a 1 in 1,150 ...

The cilium evolved to provide the ancestral eukaryote with the ability to move and sense its environment. Acquiring these functions required the compartmentalization of a dynein‐based motility ...

INFO [2023-05-22 16:29:08] smooth_by_chromosome: chr: 2 INFO [2023-05-22 16:29:13] smooth_by_chromosome: chr: 3 INFO [2023-05-22 16:29:18] smooth_by_chromosome: chr: 4 INFO [2023-05-22 16:29:23] ...