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32199 publications found in the database

*2011 (1784)

*Starting in 2010, coverage has been refocused on core journals.

2011 Publications

Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets
Jostins, L. et al. European Journal of Human Genetics 19(6), 662-6, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Pooled Genome-Wide Analysis to Identify Novel Risk Loci for Pediatric Allergic Asthma
Ricci, G. et al. Plos One 6(2), NPG, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
Otto, E. A. et al. Journal of Medical Genetics 48(2), 105-16, 2011, Human Mapping 500K Array SetMapping 500K  PubMed

Crystalline cataract caused by a heterozygous missense mutation in.gammaD- crystallin (CRYGD)
VanderVeen, D. K. et al. Molecular Vision 17(359-61), 3333-8, 2011  PubMed

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts
Ahmad, A. et al. Molecular Vision 17(210-11), 1940-5, 2011  PubMed

Interleukin-36-Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Marrakchi, S. et al. New England Journal of Medicine 365(7), 620-8, 2011  PubMed

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing
Tsurusaki, Y. et al. Journal of Medical Genetics 48(9), 606-9, 2011  PubMed

Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects
Baasanjav, S. et al. American Journal of Human Genetics 89(1), 15-27, 2011  PubMed

Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome
Khan, A. O. et al. Molecular Vision 17(214-18), 1997-2002, 2011  PubMed

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