One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes. …

Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary,
and collaborative in unprecedented ways. Exact disease recognition, an element of …

VPS13 protein family members VPS13A through VPS13C have been associated with various
recessive movement disorders. We describe the first disease association of rare recessive …

Objective Pathogenic SLC6A1 variants were recently described in patients with myoclonic
atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic …

Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF
(COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals …

Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental
disorders often beginning in infancy or early childhood that are characterized by intractable …

… Cells were harvested 48 h after transfection by centrifugation at 400 × g for 6 min. Cells
were washed once with phosphate buffer saline solution prior to storage at −80 C or protein …

Background and Purpose— Intravenous tissue plasminogen activator for ischemic stroke is
approved for eligible patients who can be treated within a 3-hour window, but treatment rates …

ATP synthase, H + transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly
ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling …

The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis
and encode proteins involved in epigenetic regulation and assembly of transcription …