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https://www.selleckchem.com/products/bicuculline.html Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. The pipeline ranked 21/34 previously diagnosed variants as top, with 26 in total ranked ≤7th, 3 ranked ≥13th; 5 failed the pipeline filters. Pathogenic/likely pathogenic variants by ACMG criteria were identified for 22/145 unsolved cases, and a previously undefined candidate disease variant for 27/145. This open access pipeline supports the partnership between clinical and research laboratories to improve the diagnosis of unsolved exomes. It provides a flexible framework for iterative developments to further improve diagnosis. Spinal cord injury (SCI) with atlantoaxial dislocation (AAD) is often fatal. We present the case of a resuscitated patient with AAD and traumatic subarachnoid hemorrhage (SAH) at the craniovertebral junction (CVJ). We present the case of an 84-year-old man who suffered an observed cardiopulmonary arrest. Cardiopulmonary resuscitation was initiated and spontaneous circulation returned. In the emergency room, the patient's Glasgow Coma Scale was 3 (E1V1M1). No spontaneous respiration was noted. Neuroimaging revealed SAH at the CVJ. Contrast-enhanced computed tomography (CT) revealed a vessel running through the left C2/3 intervertebral foramen into the spinal canal. The ventral space of spinal cord revealed contrast enhancement. Angiography revealed extravasation from the spinal branch of the left vertebral artery, without venous filling. It did not appear to be a vascular malformation with an arteriovenous shun

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