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Human Mutation|October 2, 2010
Impact of DNA physical properties on local sequence bias of human mutationSigve Nakken, Einar A Rødland, Eivind HovigHuman Mutation|October 2, 2010
Evaluating self-declared ancestry of U.S. Americans with autosomal, Y-chromosomal and mitochondrial DNAOscar Lao, Peter M Vallone, Michael D Coble, et al.Human Mutation|July 8, 2010
UMD-CFTR: a database dedicated to CF and CFTR-related disordersCorinne Bareil, Corinne Thèze, Christophe Béroud, et al.Human Mutation|July 31, 2010
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic conceptsMasashi AkiyamaHuman Mutation|July 22, 2010
Human NPY promoter variation rs16147:T>C as a moderator of prefrontal NPY gene expression and negative affectWolfgang H Sommer, Jessica Lidström, Hui Sun, et al.Human Mutation|June 29, 2010
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportionNigel F Clarke, Leigh B Waddell, Sandra T Cooper, et al.Human Mutation|June 29, 2010
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)Anthony O Fedele, John J HopwoodHuman Mutation|June 29, 2010
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion UnitJon A Beck, Mark Poulter, Tracy A Campbell, et al.Human Mutation|June 24, 2010
MUT-TP53 2.0: a novel versatile matrix for statistical analysis of TP53 mutations in human cancerThierry Soussi, Dalil Hamroun, Linn Hjortsberg, et al.Human Mutation|June 25, 2010
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiencyFang-Yuan Li, Ayman W El-Hattab, Erawati V Bawle, et al.Pageof 578