22q11. 2 Deletion syndrome (22q11. 2DS) is the most common microdeletion syndrome in
humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem …

Purpose: Recurrent 15q13. 3 deletions are enriched in multiple neurodevelopmental conditions
including intellectual disability, autism, epilepsy, and schizophrenia. However, the 15q13…

Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome
comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in …

We have developed P heno T ips: open source software for collecting and analyzing
phenotypic information for patients with genetic disorders. Our software combines an easy‐to‐use …

Ehlers–Danlos syndromes (EDS) are a heterogeneous group of hereditary connective tissue
disorders characterized by joint hypermobility, widespread musculoskeletal pain and tissue …

Background Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS)
syndrome can present management challenges. Refractory seizures and stroke-like …

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked
to neurological deficits, our understanding of the underlying molecular and cellular …

Chatbots, web-based artificial intelligence tools that simulate human conversation, are
increasingly in use to support many areas of genomic medicine. However, patient preferences …

Introduction The high demand for genetic tests and limited supply of genetics professionals
has created a need for alternative service delivery models. Digital tools are increasingly …

Ehlers-Danlos Syndrome (EDS) are a heterogeneous group of genetic connective tissue
disorders, and typically manifests as weak joints that subluxate/dislocate, stretchy and/or fragile …