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Human Mutation|August 12, 2008
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA allelesSerena Grossi, Stefano Regis, Camillo Rosano, et al.Human Mutation|August 12, 2008
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programsMaaike P G Vreeswijk, Jaennelle N Kraan, Heleen M van der Klift, et al.Human Mutation|August 6, 2008
A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significanceMaria Adelaide Caligo, Fabrizia Bonatti, Lucia Guidugli, et al.Human Mutation|October 15, 2008
Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson diseaseBalaji S Srinivasan, Jaleh Doostzadeh, Farnaz Absalan, et al.Human Mutation|September 19, 2008
Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searchesHans-Jürgen Bandelt, Antonio Salas, Robert W Taylor, et al.Human Mutation|November 21, 2007
PIK3CA cancer mutations display gender and tissue specificity patternsSilvia Benvenuti, Milo Frattini, Sabrina Arena, et al.Human Mutation|July 16, 2008
Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motifNick M Makridakis, Lúcio Fábio Caldas Ferraz, Juergen K V ReichardtHuman Mutation|July 19, 2008
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutationsW Edward Visser, Jurgen Jansen, Edith C H Friesema, et al.Human Mutation|July 30, 2008
Microarray-based mutation detection in the dystrophin geneMadhuri R Hegde, Ephrem L H Chin, Jennifer G Mulle, et al.Human Mutation|June 19, 2008
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defectsIsabelle Tournier, Myriam Vezain, Alexandra Martins, et al.Pageof 574