Exome and genome sequencing have proven to be effective tools for the diagnosis of
neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to …

We assessed the results of genome sequencing for early-onset dementia. Participants were
selected from a memory disorders clinic. Genome sequencing was performed along with …

As genomic sequencing expands, so does our knowledge of the link between genetic
variation and disease. Deeper catalogs of variant frequencies improve identification of benign …

Developmental delay and intellectual disability (DD and ID) are heterogeneous phenotypes
that arise in many rare monogenic disorders. Because of this rarity, developing cohorts with …

Purpose Clinically relevant secondary variants were identified in parents enrolled with a child
with developmental delay and intellectual disability. Methods Exome/genome sequencing …

Purpose SouthSeq is a translational research study that undertook genome sequencing (GS)
for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/…

Background: The desire of parents to obtain a genetic diagnosis for their child with intellectual
disability and associated symptoms has long been framed as a diagnostic odyssey, an …

Background: It is critical to understand the wide-ranging clinical and non-clinical effects of
genome sequencing (GS) for parents in the NICU context. We assessed parents’ experiences …

Integrating data across heterogeneous research environments is a key challenge in multi-site,
collaborative research projects. While it is important to allow for natural variation in data …

Purpose Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but
genomic testing yield for NDDs remains below 50%, suggesting that clinically relevant …