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American Journal of Human Genetics|March 1, 2011
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfectaJutta Becker, Oliver Semler, Christian Gilissen, et al.American Journal of Human Genetics|February 8, 2011
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi JewsLina Zelinger, Eyal Banin, Alexey Obolensky, et al.American Journal of Human Genetics|May 10, 2011
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing lossAntje K Huebner, Marta Gandia, Peter Frommolt, et al.American Journal of Human Genetics|May 10, 2011
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPPLisenka E L M Vissers, Ekkehart Lausch, Sheila Unger, et al.American Journal of Human Genetics|May 10, 2011
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeJames O'Sullivan, Carolina C Bitu, Sarah B Daly, et al.American Journal of Human Genetics|March 23, 2011
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autismTania López-Hernández, Margreet C Ridder, Marisol Montolio, et al.American Journal of Human Genetics|April 5, 2011
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathyMerei Huigsloot, Leo G Nijtmans, Radek Szklarczyk, et al.American Journal of Human Genetics|April 5, 2011
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, CondelAbel González-Pérez, Nuria López-BigasAmerican Journal of Human Genetics|March 1, 1986
Genetic analysis of thirty-three platelet polypeptides detected in two-dimensional polyacrylamide gelsS M Hanash, J V Neel, L J Baier, et al.American Journal of Human Genetics|March 1, 1986
The ABO blood groups and the B atypical gene in Brazil: a serologic and population genetic approach to the issueM Palatnik, W J SchullPageof 979