PubRank

Abigail W Bigham

Author PubWeight™ 119.40‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009 33.96
2 Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2009 32.06
3 Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012 17.12
4 Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011 14.29
5 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010 12.63
6 A genomewide admixture mapping panel for Hispanic/Latino populations. Am J Hum Genet 2007 3.85
7 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A 2011 1.43
8 Augmented uterine artery blood flow and oxygen delivery protect Andeans from altitude-associated reductions in fetal growth. Am J Physiol Regul Integr Comp Physiol 2009 1.34
9 Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 2011 1.04
10 Toll-like receptor polymorphism associations with HIV-1 outcomes among sub-Saharan Africans. J Infect Dis 2013 0.91
11 OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans. Hum Genet 2011 0.90
12 High-end arteriolar resistance limits uterine artery blood flow and restricts fetal growth in preeclampsia and gestational hypertension at high altitude. Am J Physiol Regul Integr Comp Physiol 2011 0.89
13 Toll-like receptor variants are associated with infant HIV-1 acquisition and peak plasma HIV-1 RNA level. AIDS 2013 0.85
14 Do anti-angiogenic or angiogenic factors contribute to the protection of birth weight at high altitude afforded by Andean ancestry? Reprod Sci 2010 0.81
15 Do cytokines contribute to the Andean-associated protection from reduced fetal growth at high altitude? Reprod Sci 2010 0.80
16 Potential role for elevated maternal enzymatic antioxidant status in Andean protection against altitude-associated SGA. J Matern Fetal Neonatal Med 2011 0.79
17 Uncoupling protein 2 Ala55Val polymorphism is associated with a higher acute insulin response to glucose. Metabolism 2009 0.78