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American Journal of Human Genetics|August 1, 1992
Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qterC Wijmenga, L A Sandkuijl, P Moerer, et al.American Journal of Human Genetics|January 10, 2006
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlationSeema R Lalani, Arsalan M Safiullah, Susan D Fernbach, et al.American Journal of Human Genetics|January 10, 2006
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiencyMikko Kuokkanen, Jorma Kokkonen, Nabil Sabri Enattah, et al.American Journal of Human Genetics|January 10, 2006
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiencyCatarina Quinzii, Ali Naini, Leonardo Salviati, et al.American Journal of Human Genetics|May 1, 1997
Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer familiesE Levy-Lahad, R Catane, S Eisenberg, et al.American Journal of Human Genetics|May 1, 1997
Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancerS Håkansson, O Johannsson, U Johansson, et al.American Journal of Human Genetics|October 1, 1996
Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schoolsJ J Mitchell, A Capua, C Clow, et al.American Journal of Human Genetics|October 1, 1996
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strainsM C Willing, S P Deschenes, R L Slayton, et al.American Journal of Human Genetics|October 1, 1996
Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain developmentJ Tan, J Dunn, J Jaeken, et al.American Journal of Human Genetics|October 1, 1996
A high frequency of distinct ATM gene mutations in ataxia-telangiectasiaJ Wright, S Teraoka, S Onengut, et al.Pageof 979