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Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.Nature Genetics|June 27, 2017
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping ConsortiumTerrence F Meehan, Nathalie Conte, David B West, et al.Nature Communications|January 20, 2018
Identification of genetic elements in metabolism by high-throughput mouse phenotypingJan Rozman, Birgit Rathkolb, Manuela A Oestereicher, et al.Communications Biology|December 28, 2018
Identification of genes required for eye development by high-throughput screening of mouse knockoutsBret A Moore, Brian C Leonard, Lionel Sebbag, et al.American Journal of Human Genetics|July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensitiesWojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.Communications Biology|March 12, 2019
Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockoutsBret A Moore, Brian C Leonard, Lionel Sebbag, et al.Neuron|June 11, 2011
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autismStephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, et al.Nature|September 15, 2016
High-throughput discovery of novel developmental phenotypesMary E Dickinson, Ann M Flenniken, Xiao Ji, et al.Nature|November 17, 2017
Corrigendum: High-throughput discovery of novel developmental phenotypesMary E Dickinson, Ann M Flenniken, Xiao Ji, et al.Pageof 105