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American Journal of Human Genetics|November 2, 2010
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromesAsli Sirmaci, Tom Walsh, Hatice Akay, et al.American Journal of Human Genetics|October 26, 2010
Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathyHu Wang, Zhaohui Li, Jizheng Wang, et al.American Journal of Human Genetics|April 1, 1990
A splice-junction mutation responsible for familial apolipoprotein A-II deficiencyS S Deeb, K Takata, R L Peng, et al.American Journal of Human Genetics|December 7, 2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeKeith W McLarren, Tesa M Severson, Christèle du Souich, et al.American Journal of Human Genetics|December 7, 2010
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determinationAlexander Pearlman, Johnny Loke, Cedric Le Caignec, et al.American Journal of Human Genetics|December 7, 2010
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signalingYun Li, Kathrin Laue, Samia Temtamy, et al.American Journal of Human Genetics|March 8, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityFadi F Hamdan, Julie Gauthier, Yoichi Araki, et al.American Journal of Human Genetics|March 8, 2011
Estimating missing heritability for disease from genome-wide association studiesSang Hong Lee, Naomi R Wray, Michael E Goddard, et al.American Journal of Human Genetics|March 1, 1978
Uridine monophosphate kinase polymorphism in two Venezuelan populationsM L Gallango, R SuinagaAmerican Journal of Human Genetics|July 1, 1991
Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytesW L Kuo, H Tenjin, R Segraves, et al.Pageof 979