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Human Mutation|March 18, 2011
SNP uniqueness problem: a proof-of-principle in HapMap SNPsShany Doron, Dorit Shweiki
Human 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.
Human Mutation|October 13, 2011
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinosesMaria Kousi, Anna-Elina Lehesjoki, Sara E Mole
Human Mutation|October 13, 2011
Curating gene variant databases (LSDBs): toward a universal standardJacopo Celli, Raymond Dalgleish, Mauno Vihinen, et al.
Human Mutation|August 20, 2011
Correlating disease-related mutations to their effect on protein stability: a large-scale analysis of the human proteomeRita Casadio, Marco Vassura, Shalinee Tiwari, et al.
Human Mutation|July 28, 2011
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 geneArnaud Blanchard, Vuthy Ea, Agathe Roubertie, et al.
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