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American Journal of Human Genetics|January 1, 1975
Report and characterization of a new variant, EB, of human red cell acid phosphataseS A SorensenAmerican Journal of Human Genetics|September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomesMichael O Dorschner, Laura M Amendola, Emily H Turner, et al.American Journal of Human Genetics|October 8, 2013
Fine Mapping and Identification of BMI Loci in African AmericansJian Gong, Fredrick Schumacher, Unhee Lim, et al.American Journal of Human Genetics|October 8, 2013
Haplotype estimation using sequencing readsOlivier Delaneau, Bryan Howie, Anthony J Cox, et al.American Journal of Human Genetics|October 8, 2013
Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophreniaCaitlin Rippey, Tom Walsh, Suleyman Gulsuner, et al.American Journal of Human Genetics|July 9, 2013
Intellectual disability is associated with increased runs of homozygosity in simplex autismEce D Gamsiz, Emma W Viscidi, Abbie M Frederick, et al.American Journal of Human Genetics|July 9, 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disabilityNina Bögershausen, Nassim Shahrzad, Jessica X Chong, et al.American Journal of Human Genetics|July 16, 2013
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosaAlice E Davidson, Nele Schwarz, Lina Zelinger, et al.American Journal of Human Genetics|July 23, 2013
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingAmélie Piton, Claire Redin, Jean-Louis MandelAmerican Journal of Human Genetics|December 27, 2011
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathyZhenlin Zhang, Weibo Xia, Jinwei He, et al.Pageof 980