A growing number of variants associated with risk for neurodevelopmental disorders have
been identified by genome-wide association and whole genome sequencing studies. As …

Many patients with epilepsy undergo exome or genome sequencing as part of a diagnostic
workup; however, many remain genetically unsolved. There are various factors that account …

Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability,
developmental delay, autism spectrum disorder, and developmental motor abnormalities …

Genetic variants in drug targets and genes encoding factors involved in drug absorption,
distribution, metabolism and excretion (ADME) can have pronounced impacts on drug …

Structural variants (SVs) represent a major source of genetic variation associated with
phenotypic diversity and disease susceptibility. While long-read sequencing can discover …

Aging is linked to the deterioration of many physical and cognitive abilities and is the leading
risk factor for Alzheimer's disease. The growing aging population is a significant healthcare …

Mendelian neurodevelopmental disorders customarily present with complex and
overlapping symptoms, complicating the clinical diagnosis. Individuals with a growing …

Fanconi anemia (FA) is a clinically variable and genetically heterogeneous cancer-
predisposing disorder representing the most common bone marrow failure syndrome. It is …

Abstract Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders
(NDDs) characterized by difficulties in social interaction and communication, repetitive …

In recent years, there has been increased focus on exploring the role the non-protein-coding
genome plays in Mendelian disorders. One class of particular interest is long non-coding …