@article {922,
	title = {Using  to drive the diagnosis and understand the mechanisms of rare human diseases.},
	journal = {Development},
	volume = {147},
	year = {2020},
	month = {2020 09 28},
	abstract = {<p>Next-generation sequencing has greatly accelerated the discovery of rare human genetic diseases. Nearly 45\% of patients have variants associated with known diseases but the unsolved cases remain a conundrum. Moreover, causative mutations can be difficult to pinpoint because variants frequently map to genes with no previous disease associations and, often, only one or a few patients with variants in the same gene are identified. Model organisms, such as , can help to identify and characterize these new disease-causing genes. Importantly,  allow quick and sophisticated genetic manipulations, permit functional testing of human variants, enable the characterization of pathogenic mechanisms and are amenable to drug tests. In this Spotlight, focusing on microcephaly as a case study, we highlight how studies of human genes in  have aided our understanding of human genetic disorders, allowing the identification of new genes in well-established signaling pathways.</p>},
	keywords = {Animals, Disease Models, Animal, Drosophila melanogaster, Genetic Techniques, Human Genetics, Humans, Microcephaly, Rare Diseases},
	issn = {1477-9129},
	doi = {10.1242/dev.191411},
	author = {Link, Nichole and Bellen, Hugo J}
}
@article {572,
	title = {Ten years of Genome Medicine.},
	journal = {Genome Med},
	volume = {11},
	year = {2019},
	month = {2019 02 15},
	pages = {7},
	abstract = {<p></p>},
	keywords = {Genomics, History, 21st Century, Human Genetics, Humans, Periodicals as Topic},
	issn = {1756-994X},
	doi = {10.1186/s13073-019-0618-x},
	author = {Auffray, Charles and Griffin, Julian L and Khoury, Muin J and Lupski, James R and Schwab, Matthias}
}
