Sarah B. Abdallah

TL;DR: The GenoSkyline-Plus annotations demonstrate that integrated genome annotations at the single tissue level provide a valuable tool for understanding the etiology of complex human diseases.

TL;DR: These findings show a pathway toward systematic gene discovery in OCD via identification of DN damaging variants, and suggest larger cohorts of OCD parent-child trios will reveal more OCD risk genes and provide needed insights into underlying disease biology.

TL;DR: The ability of GenoSkyline-Plus to accurately identify tissue-specific functionality in the human genome and provide unbiased, genome-wide insights into the genetic basis of human complex diseases is demonstrated.

TL;DR: The case of a woman with severe IAD who presented to the emergency room with increasing frequency over several months, despite regular outpatient medical visits and escalating psychiatric care is presented, and a general cognitive-behavioral therapy (CBT) protocol is integrated into medical care and decision-making.

TL;DR: Genes harboring de novo damaging variants in CMS probands show significant overlap with those in Tourette syndrome, ASD candidate genes, and those in ASD probands with high stereotypy scores, and exploratory biological pathway and gene ontology analysis highlight histone demethylation, organism development, cell motility, glucocorticoid receptor pathway, and ion channel transport.