PubRank

Giuseppe Castaldo

Author PubWeight™ 48.18‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genetic modifiers of liver disease in cystic fibrosis. JAMA 2009 1.88
2 Increased BDNF promoter methylation in the Wernicke area of suicide subjects. Arch Gen Psychiatry 2010 1.49
3 Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. Am J Med Genet 2002 1.28
4 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
5 Novel synthetic, salt-resistant analogs of human beta-defensins 1 and 3 endowed with enhanced antimicrobial activity. Antimicrob Agents Chemother 2010 1.14
6 The efficacy and safety of telaprevir - a new protease inhibitor against hepatitis C virus. Expert Opin Investig Drugs 2010 1.10
7 Pediatric portal vein thrombosis: more on thrombophilic risk factors. J Pediatr Gastroenterol Nutr 2013 1.10
8 Molecular genotyping of the Italian cohort of patients with hemophilia B. Haematologica 2005 1.08
9 Butyrate as an effective treatment of congenital chloride diarrhea. Gastroenterology 2004 0.98
10 Congenital diarrheal disorders: an updated diagnostic approach. Int J Mol Sci 2012 0.96
11 Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations. Ophthalmology 2011 0.96
12 A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis. Am J Med Genet A 2012 0.95
13 Ledipasvir : a novel synthetic antiviral for the treatment of HCV infection. Expert Opin Investig Drugs 2014 0.95
14 The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. Haematologica 2008 0.91
15 Extensive molecular analysis of patients bearing CFTR-related disorders. J Mol Diagn 2011 0.91
16 Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. Genomics 2005 0.89
17 Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures. Clin Chem Lab Med 2003 0.89
18 The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity. Clin Chem Lab Med 2007 0.88
19 Recurrent pregnancy loss and thrombophilia. Clin Lab 2007 0.88
20 MK-5172 : a second-generation protease inhibitor for the treatment of hepatitis C virus infection. Expert Opin Investig Drugs 2014 0.88
21 Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment. Clin Chem Lab Med 2011 0.87
22 Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis? PLoS One 2013 0.87
23 Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis. Clin Chem 2009 0.87
24 A mannose-binding lectin-defective haplotype is a risk factor for gastric cancer. Clin Chem 2006 0.86
25 TrkB gene expression and DNA methylation state in Wernicke area does not associate with suicidal behavior. J Affect Disord 2011 0.86
26 ABT-450: a novel protease inhibitor for the treatment of hepatitis C virus infection. Curr Med Chem 2014 0.85
27 Pre-analytical stability of the plasma proteomes based on the storage temperature. Proteome Sci 2013 0.84
28 Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance. Clin Chem Lab Med 2004 0.83
29 Molecular analysis of cluster headache. Clin J Pain 2015 0.83
30 Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. Orphanet J Rare Dis 2013 0.82
31 Haplogroup T is an obesity risk factor: mitochondrial DNA haplotyping in a morbid obese population from southern Italy. Biomed Res Int 2013 0.81
32 Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation. Am J Med Genet A 2005 0.80
33 A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients. Clin Chem Lab Med 2010 0.80
34 An update on laboratory diagnosis of liver inherited diseases. Biomed Res Int 2013 0.80
35 Efficacy and Safety of Sofosbuvir in the Treatment of Chronic Hepatitis C: The Dawn of a New Era. Rev Recent Clin Trials 2014 0.79
36 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
37 Prothrombotic gene variants as risk factors of acute myocardial infarction in young women. J Transl Med 2012 0.79
38 A cluster headache family with possible autosomal recessive inheritance. Neurology 2003 0.78
39 Fetuin-A serum levels are not correlated to kidney function in long-lived subjects. Clin Biochem 2012 0.78
40 Catechol-O-methyltransferase (COMT) gene polymorphisms as risk factor in temporomandibular disorders patients from Southern Italy. Clin J Pain 2014 0.78
41 Different outcome of six homozygotes for prothrombin A20210A gene variant. J Transl Med 2008 0.78
42 Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants. Biochim Biophys Acta 2008 0.78
43 Activity of mannose-binding lectin in centenarians. Aging Cell 2012 0.78
44 Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre. Clin Chem Lab Med 2013 0.77
45 Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation. J Cyst Fibros 2004 0.77
46 Prenatal diagnosis of cystic fibrosis: an experience of 181 cases. Clin Chem Lab Med 2013 0.77
47 Prenatal screening and counseling for genetic disorders. J Matern Fetal Neonatal Med 2013 0.76
48 Preservation of nutritional-status in patients with refractory ascites due to hepatic cirrhosis who are undergoing repeated paracentesis. J Gastroenterol Hepatol 2012 0.76
49 Congenital and acquired thrombotic risk factors in lymphoma patients bearing upper extremities deep venous thrombosis: a preliminary report. J Transl Med 2004 0.76
50 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
51 Aortomesenteric fat thickness with ultrasound predicts metabolic diseases in obese patients. Am J Med Sci 2014 0.76
52 Thromboembolic events and haematological diseases: a case of stroke as clinical onset of a paroxysmal nocturnal haemoglobinuria. Thromb J 2004 0.75
53 Genetic prothrombotic risk factors in children with extrahepatic portal vein obstruction. J Pediatr Gastroenterol Nutr 2010 0.75
54 A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta. J Mol Diagn 2011 0.75
55 Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. J Pediatr Gastroenterol Nutr 2017 0.75
56 What is the role of the non-coding regions of the CFTR gene in cystic fibrosis? Expert Rev Respir Med 2013 0.75
57 Prenatal diagnosis of haemophilia: our experience of 44 cases. Clin Chem Lab Med 2013 0.75
58 MTHFR C677T allelic variant is not associated with plasma and cerebrospinal fluid homocysteine in amyotrophic lateral sclerosis. Clin Chem Lab Med 2015 0.75
59 Two novel genomic rearrangements identified in suicide subjects using a-CGH array. Clin Chem Lab Med 2015 0.75
60 Low expression of human beta-defensin 1 in duodenum of celiac patients is partially restored by a gluten-free diet. Clin Chem Lab Med 2010 0.75
61 Reduced absorption and enhanced synthesis of cholesterol in patients with cystic fibrosis: a preliminary study of plasma sterols. Clin Chem Lab Med 2016 0.75