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American Journal of Human Genetics|December 19, 2012
Gain-of-function lipoprotein lipase variant rs13702 modulates lipid traits through disruption of a microRNA-410 seed siteKris Richardson, Jennifer A Nettleton, Noemi Rotllan, et al.American Journal of Human Genetics|December 19, 2012
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplexSandra M Pasternack, Melanie Refke, Elham Paknia, et al.American Journal of Human Genetics|December 4, 2012
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndromeLina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, et al.American Journal of Human Genetics|January 15, 2013
LRIG2 mutations cause urofacial syndromeHelen M Stuart, Neil A Roberts, Berk Burgu, et al.American Journal of Human Genetics|May 1, 2012
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduriaSandesh C S Nagamani, Philippe M Campeau, Oleg A Shchelochkov, et al.American Journal of Human Genetics|May 8, 2012
A general framework for two-stage analysis of genome-wide association studies and its application to case-control studiesJames M S Wason, Frank DudbridgeAmerican Journal of Human Genetics|May 8, 2012
Population demographic history can cause the appearance of recombination hotspotsHenry R Johnston, David J CutlerAmerican Journal of Human Genetics|May 8, 2012
Mitochondrial DNA signals of late glacial recolonization of Europe from near eastern refugiaMaria Pala, Anna Olivieri, Alessandro Achilli, et al.American Journal of Human Genetics|September 23, 2014
Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission geneticsIan M Campbell, Jonathan R Stewart, Regis A James, et al.American Journal of Human Genetics|October 4, 2014
Ascertainment bias causes false signal of anticipation in genetic prion diseaseEric Vallabh Minikel, Inga Zerr, Steven J Collins, et al.Pageof 980