PubRank

Rossella Tomaiuolo

Author PubWeight™ 15.93‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Increased BDNF promoter methylation in the Wernicke area of suicide subjects. Arch Gen Psychiatry 2010 1.49
2 Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J Pediatr Gastroenterol Nutr 2010 1.16
3 Congenital diarrheal disorders: an updated diagnostic approach. Int J Mol Sci 2012 0.96
4 Chromatin and DNA methylation dynamics of Helicobacter pylori-induced COX-2 activation. Int J Med Microbiol 2010 0.91
5 Extensive molecular analysis of patients bearing CFTR-related disorders. J Mol Diagn 2011 0.91
6 Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis? PLoS One 2013 0.87
7 Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis. Clin Chem 2009 0.87
8 Molecular diagnostics: between chips and customized medicine. Clin Chem Lab Med 2010 0.86
9 TrkB gene expression and DNA methylation state in Wernicke area does not associate with suicidal behavior. J Affect Disord 2011 0.86
10 Molecular analysis of cluster headache. Clin J Pain 2015 0.83
11 Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. Orphanet J Rare Dis 2013 0.82
12 Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation. Am J Med Genet A 2005 0.80
13 Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders. J Mol Diagn 2013 0.79
14 Fetuin-A serum levels are not correlated to kidney function in long-lived subjects. Clin Biochem 2012 0.78
15 Prenatal diagnosis of cystic fibrosis: an experience of 181 cases. Clin Chem Lab Med 2013 0.77
16 Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation. J Cyst Fibros 2004 0.77
17 Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction. Am J Med Genet A 2005 0.76
18 A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta. J Mol Diagn 2011 0.75
19 Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype. J Cyst Fibros 2006 0.75
20 What is the role of the non-coding regions of the CFTR gene in cystic fibrosis? Expert Rev Respir Med 2013 0.75