Rosemary Ekong

Author PubWeight™ 13.34‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Planning the human variome project: the Spain report. Hum Mutat 2009 2.22
2 Ethiopian genetic diversity reveals linguistic stratification and complex influences on the Ethiopian gene pool. Am J Hum Genet 2012 1.60
3 Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations. Mol Biol Evol 2013 1.33
4 Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet Med 2009 1.10
5 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat 2011 1.08
6 Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. Invest Ophthalmol Vis Sci 2002 1.05
7 Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. Hum Mutat 2012 1.05
8 Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Hum Mutat 2012 0.92
9 Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med Genet 2009 0.92
10 Diversity of lactase persistence in African milk drinkers. Hum Genet 2015 0.83
11 Common inherited mitochondrial DNA mutations and nucleoside reverse transcriptase inhibitor-induced severe hyperlactataemia in HIV-infected adults: an exploratory study. Antivir Ther 2011 0.79
12 The frequency of an IL-18-associated haplotype in Africans. Eur J Hum Genet 2012 0.75
13 Contrasting exome constancy and regulatory region variation in the gene encoding CYP3A4: an examination of the extent and potential implications. Pharmacogenet Genomics 2016 0.75