We describe an X-linked genetic syndrome associated with mutations in TAF1 and
manifesting with global developmental delay, intellectual disability (ID), characteristic facial …

As the second most common type of variation in the human genome, insertions and deletions
(indels) have been linked to many diseases, but the discovery of indels of more than a few …

Background Human Phenotype Ontology (HPO) has risen as a useful tool for precision
medicine by providing a standardized vocabulary of phenotypic abnormalities to describe …

Human genetic studies have provided a wealth of information on genetic risk factors
associated with neuropsychiatric diseases. However, whether different brain cell types are …

Autism spectrum disorders (ASDs) are a group of developmental disabilities that affect social
interaction and communication and are characterized by repetitive behaviors. There is now …

Genome-wide association studies have unearthed a wealth of genetic associations across
many complex diseases. However, translating these associations into biological mechanisms …

We describe the discovery of a new genetic syndrome, RykDax syndrome, driven by a whole
genome sequencing (WGS) study of one family from Utah with two affected male brothers, …

This report includes the discovery and analysis of a pedigree with Prader–Willi Syndrome (PWS),
hereditary hemochromatosis (HH), and dysautonomia-like symptoms. Nine members …

Background INDELs, especially those disrupting protein-coding regions of the genome, have
been strongly associated with human diseases. However, there are still many errors with …

Gholson Lyon’s lab focuses on analyzing human genetic variation and its role in severe
neuropsychiatric disorders and rare diseases, including intellectual disability, autism, and …