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American Journal of Human Genetics|May 19, 2015
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementMohammed E El-Asrag, Panagiotis I Sergouniotis, Martin McKibbin, et al.American Journal of Human Genetics|April 25, 2020
Accurate and Scalable Construction of Polygenic Scores in Large Biobank Data SetsSheng Yang, Xiang ZhouAmerican Journal of Human Genetics|May 4, 2020
Insufficient Evidence for "Autism-Specific" GenesScott M Myers, Thomas D Challman, Raphael Bernier, et al.American Journal of Human Genetics|December 18, 1997
Diversity and age of the four major mtDNA haplogroups, and their implications for the peopling of the New WorldS L Bonatto, F M SalzanoAmerican Journal of Human Genetics|December 18, 1997
Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosisL B Jacoby, D Jones, K Davis, et al.American Journal of Human Genetics|December 18, 1997
Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IVU Schwarze, J A Goldstein, P H ByersAmerican Journal of Human Genetics|December 18, 1997
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mappingE J Neufeld, H Mandel, T Raz, et al.American Journal of Human Genetics|December 18, 1997
Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4H Mehenni, J L Blouin, U Radhakrishna, et al.American Journal of Human Genetics|December 18, 1997
Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicismA W Lau, C J Brown, M Peñaherrera, et al.American Journal of Human Genetics|December 18, 1997
Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosisB Aral, C Benelli, G Ait-Ghezala, et al.Pageof 979