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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.
Human Mutation|July 28, 2011
FAS mRNA editing in Human Systemic Lupus ErythematosusJianming Wu, Fenglong Xie, Kun Qian, et al.
Human Mutation|November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrumSandra Whalen, Delphine Héron, Thierry Gaillon, et al.
Human Mutation|November 5, 2011
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlationIsabelle Audo, Saddek Mohand-Saïd, Claire-Marie Dhaenens, et al.
Human Mutation|September 9, 2011
High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutationsAdriaan G Holleboom, Jan A Kuivenhoven, Frank Peelman, et al.
Human Mutation|September 9, 2011
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosisXia Wang, Hui Wang, Ming Cao, et al.
Human Mutation|September 9, 2011
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defectsCiprian M Bosoi, Valeria Capra, Redouane Allache, et al.
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