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Human Mutation|May 12, 2007
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocationRobyn V Jamieson, Nicola Farrar, Katrina Stewart, et al.
Human Mutation|February 7, 2007
Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosisEsther Pomares, Gemma Marfany, Ma José Brión, et al.
Human Mutation|February 7, 2007
Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor informationA Osorio, R L Milne, E Honrado, et al.
Human Mutation|January 16, 2007
Identification of seven novel germline mutations in the human E-cadherin (CDH1) geneH More, B Humar, W Weber, et al.
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.
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