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American Journal of Human Genetics|March 13, 2012
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndromeZhimiao Lin, Quan Chen, Mingyang Lee, et al.American Journal of Human Genetics|March 13, 2012
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disabilityJuliane Hoyer, Arif B Ekici, Sabine Endele, et al.American Journal of Human Genetics|April 1, 1989
A deletion map of the WAGR region on chromosome 11M Gessler, G H Thomas, P Couillin, et al.American Journal of Human Genetics|May 1, 1989
Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5A Koufos, P Grundy, K Morgan, et al.American Journal of Human Genetics|December 3, 2014
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesityElaine T Lim, Yangfan P Liu, Yingleong Chan, et al.American Journal of Human Genetics|December 3, 2014
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiencyRebecca Buchert, Hasan Tawamie, Christopher Smith, et al.American Journal of Human Genetics|November 19, 2013
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humansRyan P Liegel, Mark T Handley, Adam Ronchetti, et al.American Journal of Human Genetics|November 26, 2013
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosisSandra Mercier, Sébastien Küry, Gasnat Shaboodien, et al.American Journal of Human Genetics|March 31, 2000
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/CR A Speckman, A Garg, F Du, et al.American Journal of Human Genetics|March 31, 2000
BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancerR Moslehi, W Chu, B Karlan, et al.Pageof 979