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Human Mutation|May 5, 2011
ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studiesTamuno Alfred, Yoav Ben-Shlomo, Rachel Cooper, et al.Human Mutation|May 5, 2011
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophyMyriam Vezain, Bénédicte Gérard, Séverine Drunat, et al.Human Mutation|May 4, 2011
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stabilityMichael S Nahorski, Anne Reiman, Derek H K Lim, et al.Human Mutation|April 28, 2011
Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variantsEliseos J Mucaki, Peter Ainsworth, Peter K RoganHuman Mutation|April 27, 2011
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutationFabian Schmid, Esther Glaus, Daniel Barthelmes, et al.Human Mutation|April 27, 2011
ThalInd, a β-thalassemia and hemoglobinopathies database for India: defining a model country-specific and disease-centric bioinformatics resourceSujata Sinha, Michael L Black, Sarita Agarwal, et al.Human Mutation|April 27, 2011
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patientsMónica Cozar, Roser Urreizti, Laura Vilarinho, et al.Human Mutation|April 27, 2011
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictionsXiaoming Liu, Xueqiu Jian, Eric BoerwinkleHuman Mutation|May 28, 2011
Avoidance of pseudogene interference in the detection of 3' deletions in PMS2Cecily P Vaughn, Kimberly J Hart, Wade S Samowitz, et al.Human Mutation|June 18, 2011
Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited diseaseAndreas Wolf, Amke Caliebe, Nick S T Thomas, et al.Pageof 577