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Human Mutation|December 23, 2011
Genome-wide and gene-based association implicates FRMD6 in Alzheimer diseaseMun-Gwan Hong, Chandra A Reynolds, Adina L Feldman, et al.Human Mutation|May 1, 2009
Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian populationKaren Nuytemans, Bram Meeus, David Crosiers, et al.Human Mutation|May 1, 2009
IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited diseaseIan M Carr, Eamonn Sheridan, Bruce E Hayward, et al.Human Mutation|May 1, 2009
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patientsLaura Rodríguez-Pascau, Laura Gort, Edward H Schuchman, et al.Human Mutation|May 26, 2009
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?Jonna Tallila, Riitta Salonen, Nicolai Kohlschmidt, et al.Human Mutation|May 28, 2009
LRRK2 gene variation and its contribution to Parkinson diseaseCoro Paisán-RuizHuman Mutation|June 11, 2009
BAK1 gene variation and abdominal aortic aneurysmsBruce Gottlieb, Lorraine E Chalifour, Benjamin Mitmaker, et al.Human Mutation|June 11, 2009
Functional annotations improve the predictive score of human disease-related mutations in proteinsRemo Calabrese, Emidio Capriotti, Piero Fariselli, et al.Human Mutation|June 11, 2009
Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese populationJing Xu, Zhibin Hu, Zhengfeng Xu, et al.Human Mutation|February 27, 2009
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populationsRong Lin, Xiaofeng Wang, Yi Wang, et al.Pageof 583