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Human Mutation|June 10, 2010
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repairJan Kosinski, Inga Hinrichsen, Janusz M Bujnicki, et al.Human Mutation|June 22, 2010
A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction diseaseAxel Neu, Michele Eiselt, Matthias Paul, et al.Human Mutation|June 25, 2010
The Alport syndrome COL4A5 variant databaseDavid K Crockett, Genevieve Pont-Kingdon, Frederick Gedge, et al.Human Mutation|July 15, 2010
Novel tools for extraction and validation of disease-related mutations applied to Fabry diseaseRemko Kuipers, Tom van den Bergh, Henk-Jan Joosten, et al.Human Mutation|July 31, 2010
pfSNP: An integrated potentially functional SNP resource that facilitates hypotheses generation through knowledge synthesesJingbo Wang, Mostafa Ronaghi, Samuel S Chong, et al.Human Mutation|July 31, 2010
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2Emmelien Aten, Lisa C Brasz, Dorothea Bornholdt, et al.Human Mutation|July 31, 2010
Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivoAdam S Mastrocola, Christopher D HeinenHuman Mutation|July 24, 2010
Genetic modulation of TLR8 response following bacterial phagocytosisMichael P Gantier, Aaron T Irving, Maria Kaparakis-Liaskos, et al.Human Mutation|June 5, 2010
Type I hyperprolinemia: genotype/phenotype correlationsAudrey Guilmatre, Solenn Legallic, Gary Steel, et al.Human Mutation|June 18, 2010
Analysis of mutations causing biotinidase deficiencyKirit Pindolia, Megan Jordan, Barry WolfPageof 583