Batsheva Kerem

Author PubWeight™ 46.59‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Nucleotide deficiency promotes genomic instability in early stages of cancer development. Cell 2011 4.83
2 Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003 4.43
3 Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 2008 4.35
4 Human chromosome 7: DNA sequence and biology. Science 2003 3.02
5 A role for common fragile site induction in amplification of human oncogenes. Cancer Cell 2002 2.63
6 Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet 2006 2.14
7 Failure of origin activation in response to fork stalling leads to chromosomal instability at fragile sites. Mol Cell 2011 1.98
8 Homologous recombination and nonhomologous end-joining repair pathways regulate fragile site stability. Genes Dev 2005 1.97
9 Molecular basis for expression of common and rare fragile sites. Mol Cell Biol 2003 1.78
10 Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J Clin Invest 2007 1.73
11 Introducing sense into nonsense in treatments of human genetic diseases. Trends Genet 2008 1.69
12 The molecular basis of common and rare fragile sites. Cancer Lett 2005 1.68
13 Splicing regulation as a potential genetic modifier. Trends Genet 2002 1.61
14 The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells. Eur J Hum Genet 2007 1.48
15 The complex basis underlying common fragile site instability in cancer. Trends Genet 2012 1.25
16 LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. PLoS One 2013 1.04
17 The splicing machinery is a genetic modifier of disease severity. Trends Genet 2005 0.98
18 Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation. EMBO Rep 2004 0.98
19 Variable expression of long QT syndrome among gene carriers from families with five different HERG mutations. Ann Noninvasive Electrocardiol 2002 0.92
20 Quantitative methods for the analysis of CFTR transcripts/splicing variants. J Cyst Fibros 2004 0.86
21 Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations. PLoS One 2009 0.84
22 Clinical, genetic, and electrophysiologic characteristics of a new PAS-domain HERG mutation (M124R) causing Long QT syndrome. Ann Noninvasive Electrocardiol 2005 0.83
23 The unfolded protein response affects readthrough of premature termination codons. EMBO Mol Med 2014 0.82
24 Familial concordance of phenotype and microbial variation among siblings with CF. Pediatr Pulmonol 2004 0.79
25 Interplay between genetic and epigenetic factors governs common fragile site instability in cancer. Cell Mol Life Sci 2014 0.78
26 Splicing modulation as a modifier of the CFTR function. Prog Mol Subcell Biol 2006 0.76
27 FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage. J Med Genet 2007 0.75
28 Infection with retroviral vectors leads to perturbed DNA replication increasing vector integrations into fragile sites. Sci Rep 2013 0.75
29 Nonsense-mediated mRNA decay and cystic fibrosis. Methods Mol Biol 2011 0.75