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Human Mutation|September 3, 2010
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) diseaseCamasamudram Vijayasarathy, Ruifang Sui, Yong Zeng, et al.Human Mutation|June 3, 2010
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencingEmilie Lalonde, Steffen Albrecht, Kevin C H Ha, et al.Human Mutation|December 2, 2010
Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genesChristine M van Vliet, James G Dowty, Jane L van Vliet, et al.Human Mutation|December 2, 2010
Meiotic recombination favors the spreading of deleterious mutations in human populationsAnamaria Necşulea, Alexandra Popa, David N Cooper, et al.Human Mutation|August 21, 2010
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxiasClaudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, et al.Human Mutation|August 21, 2010
miRNA genes and the brain: implications for psychiatric disordersDiego A Forero, Karlijn van der Ven, Patrick Callaerts, et al.Human Mutation|January 22, 2009
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutationsAnnemieke Aartsma-Rus, Ivo Fokkema, Jan Verschuuren, et al.Human Mutation|January 22, 2009
Protein sequences encode safeguards against aggregationJoke Reumers, Sebastian Maurer-Stroh, Joost Schymkowitz, et al.Human Mutation|February 12, 2009
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6Olga L Gurvich, Baijayanta Maiti, Robert B Weiss, et al.Human Mutation|February 12, 2009
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 alleleRizwan Hamid, Joy D Cogan, Lora K Hedges, et al.Pageof 576