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Human Mutation|March 12, 2011
WAVe: web analysis of the variomePedro Lopes, Raymond Dalgleish, José Luís OliveiraHuman Mutation|March 12, 2011
A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicismJuana Fernández-Rodríguez, Joan Castellsagué, Llúcia Benito, et al.Human Mutation|March 18, 2011
SNCA locus duplication carriers: from genetics to Parkinson disease phenotypesEugénie Mutez, Frédéric Leprêtre, Emilie Le Rhun, et al.Human Mutation|March 18, 2011
A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agentsClaudia Crimella, Orazio Cantoni, Andrea Guidarelli, et al.Human Mutation|March 18, 2011
SNP uniqueness problem: a proof-of-principle in HapMap SNPsShany Doron, Dorit ShweikiHuman Mutation|March 18, 2011
Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1Fernando Cardona, Jose Vicente Sánchez-Mut, Hernán Dopazo, et al.Human Mutation|March 18, 2011
A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotoniaTomoya Kubota, Xavier Roca, Takashi Kimura, et al.Human Mutation|March 18, 2011
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplexCheng Zhou, Dongjie Zang, Yan Jin, et al.Human Mutation|August 19, 2011
Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal deathDario C Angeles, Bong-Hwa Gan, Luisa Onstead, et al.Human Mutation|October 13, 2011
Novel FAM20A mutations in hypoplastic amelogenesis imperfectaSang Hyun Cho, Figen Seymen, Kyung-Eun Lee, et al.Pageof 583