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Human Mutation|January 18, 2007
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locusShahid Y Khan, Zubair M Ahmed, Muhammad I Shabbir, et al.
Human Mutation|April 5, 2007
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome RegistryJames German, Maureen M Sanz, Susan Ciocci, et al.
Human Mutation|April 28, 2007
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic applicationEfraim H Rosenberg, Cristina Martínez Muñoz, Ofir T Betsalel, et al.
Human Mutation|October 31, 2006
Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGEKhalid K Alharbi, Emmanuel Spanakis, Karen Tan, et al.
Human Mutation|September 8, 2006
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family RegistryJ L Bernstein, S Teraoka, M C Southey, et al.
Human Mutation|October 17, 2006
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patientsCindy Krause, Hendrik Rosewich, Melissa Thanos, et al.
Human Mutation|October 17, 2006
Deficient membrane integration of the novel p.N14D-GJB2 mutant associated with non-syndromic hearing impairmentB Haack, K Schmalisch, M Palmada, et al.
Human Mutation|October 17, 2006
Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplificationJinxiu Shi, Qiang Liu, Steve S Sommer
Human Mutation|October 17, 2006
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD geneNathalie Deburgrave, Fatma Daoud, Stéphane Llense, et al.
Human Mutation|June 6, 2006
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduriaH Bikker, H D Bakker, N G G M Abeling, et al.
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