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American Journal of Human Genetics|March 1, 1990
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1)D H Cohn, B J Starman, B Blumberg, et al.American Journal of Human Genetics|October 30, 2012
Length distributions of identity by descent reveal fine-scale demographic historyPier Francesco Palamara, Todd Lencz, Ariel Darvasi, et al.American Journal of Human Genetics|November 13, 2012
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduriaKatharina Danhauser, Sven W Sauer, Tobias B Haack, et al.American Journal of Human Genetics|January 28, 2014
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsKathleen A Williamson, Joe Rainger, James A B Floyd, et al.American Journal of Human Genetics|January 28, 2014
NR2F1 mutations cause optic atrophy with intellectual disabilityDaniëlle G M Bosch, F Nienke Boonstra, Claudia Gonzaga-Jauregui, et al.American Journal of Human Genetics|January 7, 2014
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos diseaseF Buket Basmanav, Ana-Maria Oprisoreanu, Sandra M Pasternack, et al.American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.American Journal of Human Genetics|November 6, 2012
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial diseaseAlessia Indrieri, Vanessa Alexandra van Rahden, Valeria Tiranti, et al.American Journal of Human Genetics|January 1, 1979
Population genetic studies of the Philippine Negritos. II. gm and km allotypes of three population groupsH Matsumoto, T Miyazaki, K Omoto, et al.American Journal of Human Genetics|January 1, 1979
Preliminary communication: prenatal detection of the Fanconi Anemia gene by cytogenetic methodsA D Auerbach, D Warburton, A D Bloom, et al.Pageof 979