PubRank

Borut Peterlin

Author PubWeight™ 61.86‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Using literature-based discovery to identify disease candidate genes. Int J Med Inform 2005 3.16
2 Exploiting semantic relations for literature-based discovery. AMIA Annu Symp Proc 2006 2.15
3 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol 2014 1.95
4 Genetic polymorphisms in vasoactive genes and preeclampsia: a meta-analysis. Eur J Obstet Gynecol Reprod Biol 2006 1.59
5 Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion. Am J Med Genet A 2012 1.59
6 Hemochromatosis-causing mutations C282Y and H63D are not risk factors for atherothrombotic cerebral infarction. Med Sci Monit 2005 1.40
7 Local and genetic determinants of vascular endothelial growth factor expression in advanced proliferative diabetic retinopathy. Mol Vis 2008 1.39
8 Y chromosome azoospermia factor region microdeletions are not associated with idiopathic recurrent spontaneous abortion in a Slovenian population: association study and literature review. Fertil Steril 2013 1.39
9 Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. Am J Respir Crit Care Med 2005 1.37
10 Using literature-based discovery to identify novel therapeutic approaches. Cardiovasc Hematol Agents Med Chem 2013 1.06
11 Association of vascular endothelial growth factor gene polymorphism with myocardial infarction in patients with type 2 diabetes. Cardiology 2007 1.05
12 Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet 2008 1.05
13 Improving literature based discovery support by genetic knowledge integration. Stud Health Technol Inform 2003 1.03
14 Insertion/deletion plasminogen activator inhibitor 1 and insertion/deletion angiotensin-converting enzyme gene polymorphisms in diabetic retinopathy in type 2 diabetes. Ophthalmologica 2003 1.01
15 Gly482Ser polymorphism of the peroxisome proliferator-activated receptor-gamma coactivator-1 gene might be a risk factor for diabetic retinopathy in Slovene population (Caucasians) with type 2 diabetes and the Pro12Ala polymorphism of the PPARgamma gene is not. Diabetes Metab Res Rev 2005 0.92
16 Genetic markers of restenosis after coronary angioplasty and after stent implantation. Med Sci Monit 2005 0.89
17 Gene expression changes in blood as a putative biomarker for Huntington's disease. Mov Disord 2009 0.89
18 Patients with primary cataract as a genetic pool of DMPK protomutation. J Hum Genet 2006 0.88
19 Human Y-specific STR haplotypes in the Western Croatian population sample. Forensic Sci Int 2005 0.88
20 Fragile X premutation in women with sporadic premature ovarian failure in Slovenia. Hum Reprod 2003 0.88
21 Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample. Am J Med Genet A 2013 0.88
22 BglII gene polymorphism of the alpha2beta1 integrin gene is a risk factor for diabetic retinopathy in Caucasians with type 2 diabetes. J Hum Genet 2003 0.85
23 Distribution of HFE gene mutations in Slovenian patients with hereditary hemochromatosis. Ann Hematol 2008 0.85
24 Interstitial deletion 2p11.2-p12: further delineation. Am J Med Genet A 2009 0.84
25 Association between genetic polymorphisms in cytokine genes and recurrent miscarriage--a meta-analysis. Reprod Biomed Online 2009 0.84
26 Polymorphisms in the interleukin-12/18 genes and recurrent spontaneous abortion. Am J Reprod Immunol 2007 0.83
27 Association between male infertility and genetic variability at the PON1/2 and GSTM1/T1 gene loci. Reprod Biomed Online 2011 0.83
28 Aldose reductase (AC)n gene polymorphism and susceptibility to diabetic retinopathy in Type 2 diabetes in Caucasians. J Diabetes Complications 2005 0.83
29 The - 429 T/C and - 374 T/A gene polymorphisms of the receptor of advanced glycation end products gene are not risk factors for diabetic retinopathy in Caucasians with type 2 diabetes. Klin Monbl Augenheilkd 2003 0.83
30 Matrix metalloproteinases 1, 2, 3 and 9 functional single-nucleotide polymorphisms in idiopathic recurrent spontaneous abortion. Reprod Biomed Online 2012 0.82
31 Histamine N-methyltransferase Thr105Ile polymorphism is associated with Parkinson's disease. Neurobiol Aging 2011 0.82
32 The interleukin-1 receptor antagonist gene and the inhibitor of kappa B-like protein gene polymorphisms are not associated with myocardial infarction in Slovene population with type 2 diabetes. Coll Antropol 2007 0.82
33 Gene polymorphisms of the renin-angiotensin-aldosterone system and essential arterial hypertension in childhood. Folia Biol (Krakow) 2002 0.82
34 4G4G genotype of PAI-1 gene promoter polymorphism is not associated with myocardial infarction in Caucasians with type-2 diabetes. Cardiology 2003 0.80
35 Association of angiotensin-converting enzyme/DD genotype with sarcoidosis susceptibility in Slovenian patients. Med Sci Monit 2007 0.80
36 Copy number of DAZ genes in infertile men. Fertil Steril 2005 0.80
37 Detection of thrombophilic mutations related to spontaneous abortions by a multiplex SNaPshot method. Genet Test Mol Biomarkers 2011 0.80
38 Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet 2015 0.80
39 Search for sarcoidosis candidate genes by integration of data from genomic, transcriptomic and proteomic studies. Med Sci Monit 2009 0.80
40 PAI and TPA gene polymorphisms in multiple sclerosis. Mult Scler 2007 0.80
41 Genetic variation in circadian rhythm genes CLOCK and ARNTL as risk factor for male infertility. PLoS One 2013 0.80
42 Angiotensin-converting enzyme gene polymorphism in patients with multiple sclerosis from Bosnia and Herzegovina. Genet Test Mol Biomarkers 2011 0.79
43 Factor V Leiden, prothrombin 20210G --> A, methylenetetrahydrofolate reductase 677C --> T and plasminogen activator inhibitor 4G/5G polymorphism in women with pregnancy-related venous thromboembolism. Eur J Obstet Gynecol Reprod Biol 2003 0.79
44 Epidemiology of multiple sclerosis in western Herzegovina. Clin Neurol Neurosurg 2007 0.79
45 Single signal of the Williams syndrome chromosome region 1 gene in hyperploidic bone marrow cells of acute lymphoblastic leukemia in a Williams syndrome patient. Med Pediatr Oncol 2002 0.79
46 Expression signature as a biomarker for prenatal diagnosis of trisomy 21. PLoS One 2013 0.79
47 Genetic predisposition to idiopathic recurrent spontaneous abortion: contribution of genetic variations in IGF-2 and H19 imprinted genes. Am J Reprod Immunol 2008 0.79
48 Role of genetic polymorphisms in ACE and TNF-alpha gene in sarcoidosis: a meta-analysis. J Hum Genet 2007 0.79
49 Family history as a predictor for disease risk in healthy individuals: a cross-sectional study in Slovenia. PLoS One 2013 0.79
50 Positional integratomic approach in identification of genomic candidate regions for Parkinson's disease. Bioinformatics 2011 0.79
51 Mutations in the hemochromatosis gene (HFE) and multiple sclerosis. Neurosci Lett 2005 0.78
52 No association of CCR5delta32 gene mutation with multiple sclerosis in Croatian and Slovenian patients. Mult Scler 2006 0.78
53 Low frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis. Med Sci Monit 2011 0.78
54 Semantic relations for interpreting DNA microarray data. AMIA Annu Symp Proc 2009 0.78
55 Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina. Coll Antropol 2006 0.78
56 Y chromosome microdeletions in infertile men with cryptorchidism. Fertil Steril 2003 0.77
57 C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment. BMC Ear Nose Throat Disord 2005 0.77
58 Genetic variation in tissue inhibitors of metalloproteinases as a risk factor for idiopathic recurrent spontaneous abortion. Fertil Steril 2013 0.77
59 Identifying candidate genes for Parkinson's disease by integrative genomics method. Biochem Med (Zagreb) 2011 0.77
60 Sex difference in the effect of ACE-DD genotype on the risk of premature myocardial infarction. Angiology 2004 0.77
61 Fibrinogen polymorphisms TaqI, HaeIII and BclI are not associated with a higher risk of deep vein thrombosis. Pathophysiol Haemost Thromb 2004 0.77
62 Tumor necrosis factor-alpha-308 gene polymorphism in Croatian and Slovenian multiple sclerosis patients. Eur Neurol 2007 0.77
63 Interleukin 7 receptor alpha polymorphism rs6897932 and susceptibility to multiple sclerosis in the Western Balkans. Mult Scler 2010 0.77
64 Incidence of the del35G/GJB2 mutation in Croatian newborns with hearing impairment. Med Sci Monit 2005 0.76
65 Pharmacogenomic considerations of the insertion/deletion gene polymorphism of the angiotensin I-converting enzyme and coronary artery disease. Curr Vasc Pharmacol 2004 0.76
66 CTG amplification in the DM1PK gene is not associated with idiopathic male subfertility. Hum Reprod 2004 0.75
67 HLA class II polymorphism in autochthonous population of Gorski kotar, Croatia. Coll Antropol 2007 0.75
68 Genital anomalies in a patient with Treacher Collins syndrome. Am J Med Genet A 2008 0.75
69 Correlates of depression in the Slovenian working population. Arh Hig Rada Toksikol 2013 0.75
70 [The DNA test in the diagnosis of Huntington disease]. Med Arh 2002 0.75
71 Angiotensin-converting enzyme insertion/deletion gene polymorphism and interferon-β treatment response in multiple sclerosis patients: a preliminary report. Pharmacogenet Genomics 2017 0.75
72 De novo NEMO gene deletion (delta4-10)--a cause of incontinentia pigmenti in a female infant: a case report. Coll Antropol 2008 0.75
73 Estrogen receptor dinucleotide (TA) polymorphism does not predict premature myocardial infarction in Caucasian women. Cardiology 2003 0.75
74 The insulin-like growth factor 2 receptor gene Gly1619Arg polymorphism and idiopathic recurrent spontaneous abortion. J Matern Fetal Neonatal Med 2011 0.75
75 Polymorphisms in genes coding for mediators in the interleukin cascade and their effect on susceptibility to sarcoidosis in the Slovenian population. Int J Mol Med 2007 0.75
76 Copy number of DAZ genes in Slovenian and Bosnian general population. Coll Antropol 2004 0.75
77 Common chitotriosidase duplication gene polymorphism and clinical outcome status in sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis 2015 0.75
78 Analysis of the CAG repeat number in exon 1 of the androgen receptor gene in Slovene men with idiopathic azoospermia and oligoasthenoteratozoospermia. Asian J Androl 2007 0.75
79 Responsible implementation of expanded carrier screening. Eur J Hum Genet 2017 0.75
80 Epigenetics and Bruxism: Possible Role of Epigenetics in the Etiology of Bruxism. Int J Prosthodont 2015 0.75
81 Apolipoprotein E gene polymorphism effects triglycerides but not CAD risk in Caucasian women younger than 65 years. Ann Genet 2004 0.75
82 Incidence of the 35delG/GJB2 mutation in low-risk newborns. J Matern Fetal Neonatal Med 2008 0.75
83 Molecular analysis in diagnostic procedure of hearing impairment in newborns. Croat Med J 2005 0.75
84 Oestrogen receptor dinucleotide (TA) polymorphism affects total and LDL cholesterol but does not predict premature myocardial infarction in Caucasian men. Acta Cardiol 2005 0.75
85 Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe-EUROCRAN Study. Cleft Palate Craniofac J 2016 0.75