@article {1489918,
	title = {A framework for the investigation of rare genetic disorders in neuropsychiatry},
	journal = {Nat Med},
	volume = {25},
	number = {10},
	year = {2019},
	month = {2019 10},
	pages = {1477-1487},
	abstract = {De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity, frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies and data sharing have revolutionized the identification and diagnosis of RGDs, presenting an opportunity to elucidate the mechanisms underlying neuropsychiatric disorders by investigating the pathophysiology of high-penetrance genetic risk factors. Here we seek out the best path forward for achieving these goals. We think future research will require consistent approaches across multiple RGDs and developmental stages, involving both the characterization of shared neuropsychiatric dimensions in humans and the identification of neurobiological commonalities in model systems. A coordinated and concerted effort across patients, families, researchers, clinicians and institutions, including rapid and broad sharing of data, is now needed to translate these discoveries into urgently needed therapies.},
	keywords = {Genomics, Humans, Mental Disorders, Neuropsychiatry, Rare Diseases},
	issn = {1546-170X},
	doi = {10.1038/s41591-019-0581-5},
	author = {Sanders, Stephan J and Sahin, Mustafa and Hostyk, Joseph and Thurm, Audrey and Jacquemont, Sebastien and Avillach, Paul and Douard, Elise and Martin, Christa L and Modi, Meera E and Moreno-De-Luca, Andres and Raznahan, Armin and Anticevic, Alan and Dolmetsch, Ricardo and Feng, Guoping and Geschwind, Daniel H and Glahn, David C and Goldstein, David B and Ledbetter, David H and Mulle, Jennifer G and Pasca, Sergiu P and Samaco, Rodney and Sebat, Jonathan and Pariser, Anne and Lehner, Thomas and Gur, Raquel E and Bearden, Carrie E}
}
