Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …

Purpose Congenital anomalies and intellectual disability (CA/ID) are a major diagnostic
challenge in medical genetics—50% of patients still have no molecular diagnosis after a …

Whole-genome sequencing (WGS) as a first-tier diagnostic test could transform medical
genetic assessments, but there are limited data regarding its clinical use. We previously …

Adaptor protein (AP) complexes are heterotetramers that select cargo for inclusion into
transport vesicles. Five AP complexes (AP-1 to AP-5) have been described, each with a …

Background PD is a complex polygenic disorder. In recent years, several genes from the
endocytic membrane‐trafficking pathway have been suggested to contribute to disease …

Protein coats are supramolecular complexes that assemble on the cytosolic face of
membranes to promote cargo sorting and transport carrier formation in the endomembrane …

In clinical exome sequencing (cES), the American College of Medical Genetics and
Genomics recommends limiting variant interpretation to established human-disease genes …

Highlights•AP complexes mediate intracellular sorting of transmembrane proteins.•Although
present in all cells, AP complexes have specialized functions in neurons.•Mutations in AP …