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American Journal of Human Genetics|June 26, 2012
A common variant in SLC8A1 is associated with the duration of the electrocardiographic QT intervalJong Wook Kim, Kyung-Won Hong, Min Jin Go, et al.American Journal of Human Genetics|June 26, 2012
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disordersRui Luo, Stephan J Sanders, Yuan Tian, et al.American Journal of Human Genetics|June 19, 2012
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genesJennifer J Johnston, Wendy S Rubinstein, Flavia M Facio, et al.American Journal of Human Genetics|June 19, 2012
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery diseaseWeihong Tang, Christine Schwienbacher, Lorna M Lopez, et al.American Journal of Human Genetics|July 24, 2012
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical coresKaren Majczenko, Ann E Davidson, Sandra Camelo-Piragua, et al.American Journal of Human Genetics|September 4, 2012
Prioritizing genetic variants for causality on the basis of preferential linkage disequilibriumQianqian Zhu, Dongliang Ge, Erin L Heinzen, et al.American Journal of Human Genetics|September 4, 2012
RTTN mutations link primary cilia function to organization of the human cerebral cortexSima Kheradmand Kia, Elly Verbeek, Erik Engelen, et al.American Journal of Human Genetics|July 10, 2012
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- miceBryn D Webb, Sherin Shaaban, Harald Gaspar, et al.American Journal of Human Genetics|July 31, 1998
A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British familiesN P Burrows, A C Nicholls, A J Richards, et al.American Journal of Human Genetics|July 31, 1998
Mitochondrial and nuclear genetic relationships among Pacific Island and Asian populationsJ K Lum, R L Cann, J J Martinson, et al.Pageof 979