List of works - Borut Peterlin

Aldose reductase (AC)n gene polymorphism and susceptibility to diabetic retinopathy in Type 2 diabetes in Caucasians.

scientific article

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Angiotensin-converting enzyme I/D gene polymorphism and risk of multiple sclerosis.

scientific article

Angiotensin-converting enzyme insertion/deletion gene polymorphism in multiple sclerosis: a meta-analysis

scientific article

Association between the apolipoprotein B signal peptide gene insertion/deletion polymorphism and male infertility

scientific article published on 27 October 2006

Association of vascular endothelial growth factor gene polymorphism with myocardial infarction in patients with type 2 diabetes

scientific article

BglII gene polymorphism of the alpha2beta1 integrin gene is a risk factor for diabetic retinopathy in Caucasians with type 2 diabetes.

scientific article published on 23 August 2003

Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss

scientific article

C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment

scientific article

Chi-square-based scoring function for categorization of MEDLINE citations.

scientific article published on 20 January 2010

Clinical utility of array comparative genomic hybridisation in prenatal setting

scientific article

Combination of QF-PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage

scientific article published on 23 October 2019

Detection of thrombophilic mutations related to spontaneous abortions by a multiplex SNaPshot method

scientific article published on 24 October 2011

Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation

scientific article

Epigenetics and Bruxism: Possible Role of Epigenetics in the Etiology of Bruxism

scientific article

Estrogen receptor dinucleotide (TA) polymorphism does not predict premature myocardial infarction in Caucasian women

scientific article published in January 2003

Evaluating the SERCA2 and VEGF mRNAs as Potential Molecular Biomarkers of the Onset and Progression in Huntington's Disease

scientific article published on 27 April 2015

Exploiting semantic relations for literature-based discovery ⬇️

scientific article published on January 2006

Expression signature as a biomarker for prenatal diagnosis of trisomy 21.

scientific article

Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?

scientific article published on 01 August 2005

Family history as a predictor for disease risk in healthy individuals: a cross-sectional study in Slovenia

scientific article

Family physicians' self-perceived importance of providing genetic test information to patients: a cross-sectional study from Slovenia

scientific article published on 17 March 2014

Fibrinogen polymorphisms TaqI, HaeIII and BclI are not associated with a higher risk of deep vein thrombosis.

scientific article published in May 2003

Fragile X premutation in women with sporadic premature ovarian failure in Slovenia.

scientific article published in August 2003

Functional polymorphisms of matrix metalloproteinases 1 and 9 genes in women with spontaneous preterm birth

scientific article

GSTM1-null and GSTT1-null genotypes are associated with essential arterial hypertension in patients with type 2 diabetes

scientific article

Gene polymorphisms of the renin-angiotensin-aldosterone system and essential arterial hypertension in childhood

scientific article published in January 2002

Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe-EUROCRAN Study.

scientific article published on 20 December 2016

Genetic markers of restenosis after coronary angioplasty and after stent implantation

scientific article published on 24 March 2005

Genetic polymorphisms in vasoactive genes and preeclampsia: a meta-analysis

scientific article published on 16 November 2006

Genetic predisposition to idiopathic recurrent spontaneous abortion: contribution of genetic variations in IGF-2 and H19 imprinted genes.

scientific article published in August 2008

Genetic variation in circadian rhythm genes CLOCK and ARNTL as risk factor for male infertility

scientific article

Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion.

scientific article published on December 2016

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

scientific article published on 01 September 2005

Heart-hand syndrome of Slovenian type: a new kind of laminopathy

scientific article published on 08 July 2008

Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis

scientific article

Impact of prenatal screening on the prevalence of Down syndrome in Slovenia

scientific article

Incidence of the 35delG/GJB2 mutation in low-risk newborns.

scientific article published in July 2008

Insertion/deletion polymorphism in intron 16 of ACE gene in idiopathic recurrent spontaneous abortion: case-control study, systematic review and meta-analysis.

scientific article

Integration of data from omic studies with the literature-based discovery towards identification of novel treatments for neovascularization in diabetic retinopathy

scientific article

Lack of association of immune-response-gene polymorphisms with susceptibility to sarcoidosis in Slovenian patients

scientific article

Local and genetic determinants of vascular endothelial growth factor expression in advanced proliferative diabetic retinopathy

scientific article published on 30 July 2008

Low frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis.

scientific article published on October 2011

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome

scientific article

Mutations in the hemochromatosis gene (HFE) and multiple sclerosis.

scientific article published in August 2005

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

scientific article

Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.

scientific article

Omics technologies and neovascular ocular disorders

scientific article

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

Patients with primary cataract as a genetic pool of DMPK protomutation

scientific article published on 05 December 2006

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

scientific article published on 14 August 2013

Reply to Sajantila and Budowle

scientific article published on 14 January 2015

Responsible implementation of expanded carrier screening

scientific article published on 16 March 2016

Responsible implementation of expanded carrier screening

scientific article published on November 2017

Role of genetic polymorphisms in ACE and TNF-alpha gene in sarcoidosis: a meta-analysis

scientific article published on 04 September 2007

Search for sarcoidosis candidate genes by integration of data from genomic, transcriptomic and proteomic studies.

scientific article

Semantic relations for interpreting DNA microarray data

scientific article

Sex difference in the effect of ACE-DD genotype on the risk of premature myocardial infarction

scientific article published in March 2004

Systematic review and meta-analysis of genetic association studies in idiopathic recurrent spontaneous abortion

scientific article published on 11 November 2016

Telegenetics: an Update on Availability and Use of Telemedicine in Clinical Genetics Service

scientific article published on 17 December 2016

The -2549 insertion/deletion polymorphism in the promoter region of the VEGFA gene in couples with idiopathic recurrent spontaneous abortion

scientific article

The influence of cytokine gene polymorphisms on the risk of developing gastric cancer in patients with Helicobacter pylori infection

scientific article

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.

scientific article

The lack of association between angiotensin-converting enzyme gene insertion/deletion polymorphism and nicotine dependence in multiple sclerosis.

scientific article

The role of TPA I/D and PAI-1 4G/5G polymorphisms in multiple sclerosis.

scientific article

Towards a European consensus for reporting incidental findings during clinical NGS testing

scientific article published on 3 June 2015

Using literature-based discovery to identify novel therapeutic approaches

scientific article published on March 2013

Y chromosome azoospermia factor region microdeletions are not associated with idiopathic recurrent spontaneous abortion in a Slovenian population: association study and literature review.

scientific article published on 11 February 2013

Y chromosome microdeletions in infertile men with cryptorchidism.

scientific article

List of works by Borut Peterlin

Aldose reductase (AC)n gene polymorphism and susceptibility to diabetic retinopathy in Type 2 diabetes in Caucasians.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Angiotensin-converting enzyme I/D gene polymorphism and risk of multiple sclerosis.

Angiotensin-converting enzyme insertion/deletion gene polymorphism in multiple sclerosis: a meta-analysis

Association between the apolipoprotein B signal peptide gene insertion/deletion polymorphism and male infertility

Association of vascular endothelial growth factor gene polymorphism with myocardial infarction in patients with type 2 diabetes

BglII gene polymorphism of the alpha2beta1 integrin gene is a risk factor for diabetic retinopathy in Caucasians with type 2 diabetes.

Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss

C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment

Chi-square-based scoring function for categorization of MEDLINE citations.

Clinical utility of array comparative genomic hybridisation in prenatal setting

Combination of QF-PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage

Detection of thrombophilic mutations related to spontaneous abortions by a multiplex SNaPshot method

Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation

Epigenetics and Bruxism: Possible Role of Epigenetics in the Etiology of Bruxism

Estrogen receptor dinucleotide (TA) polymorphism does not predict premature myocardial infarction in Caucasian women

Evaluating the SERCA2 and VEGF mRNAs as Potential Molecular Biomarkers of the Onset and Progression in Huntington's Disease

Exploiting semantic relations for literature-based discovery ⬇️

Expression signature as a biomarker for prenatal diagnosis of trisomy 21.

Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?

Family history as a predictor for disease risk in healthy individuals: a cross-sectional study in Slovenia

Family physicians' self-perceived importance of providing genetic test information to patients: a cross-sectional study from Slovenia

Fibrinogen polymorphisms TaqI, HaeIII and BclI are not associated with a higher risk of deep vein thrombosis.

Fragile X premutation in women with sporadic premature ovarian failure in Slovenia.

Functional polymorphisms of matrix metalloproteinases 1 and 9 genes in women with spontaneous preterm birth

GSTM1-null and GSTT1-null genotypes are associated with essential arterial hypertension in patients with type 2 diabetes

Gene polymorphisms of the renin-angiotensin-aldosterone system and essential arterial hypertension in childhood

Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe-EUROCRAN Study.

Genetic markers of restenosis after coronary angioplasty and after stent implantation

Genetic polymorphisms in vasoactive genes and preeclampsia: a meta-analysis

Genetic predisposition to idiopathic recurrent spontaneous abortion: contribution of genetic variations in IGF-2 and H19 imprinted genes.

Genetic variation in circadian rhythm genes CLOCK and ARNTL as risk factor for male infertility

Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion.

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

Heart-hand syndrome of Slovenian type: a new kind of laminopathy

Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis

Impact of prenatal screening on the prevalence of Down syndrome in Slovenia

Incidence of the 35delG/GJB2 mutation in low-risk newborns.

Insertion/deletion polymorphism in intron 16 of ACE gene in idiopathic recurrent spontaneous abortion: case-control study, systematic review and meta-analysis.

Integration of data from omic studies with the literature-based discovery towards identification of novel treatments for neovascularization in diabetic retinopathy

Lack of association of immune-response-gene polymorphisms with susceptibility to sarcoidosis in Slovenian patients

Local and genetic determinants of vascular endothelial growth factor expression in advanced proliferative diabetic retinopathy

Low frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis.

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome

Mutations in the hemochromatosis gene (HFE) and multiple sclerosis.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.

Omics technologies and neovascular ocular disorders

PEDIA: prioritization of exome data by image analysis

Patients with primary cataract as a genetic pool of DMPK protomutation

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Reply to Sajantila and Budowle

Responsible implementation of expanded carrier screening

Responsible implementation of expanded carrier screening

Role of genetic polymorphisms in ACE and TNF-alpha gene in sarcoidosis: a meta-analysis

Search for sarcoidosis candidate genes by integration of data from genomic, transcriptomic and proteomic studies.

Semantic relations for interpreting DNA microarray data

Sex difference in the effect of ACE-DD genotype on the risk of premature myocardial infarction

Systematic review and meta-analysis of genetic association studies in idiopathic recurrent spontaneous abortion

Telegenetics: an Update on Availability and Use of Telemedicine in Clinical Genetics Service

The -2549 insertion/deletion polymorphism in the promoter region of the VEGFA gene in couples with idiopathic recurrent spontaneous abortion

The influence of cytokine gene polymorphisms on the risk of developing gastric cancer in patients with Helicobacter pylori infection

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.

The lack of association between angiotensin-converting enzyme gene insertion/deletion polymorphism and nicotine dependence in multiple sclerosis.

The role of TPA I/D and PAI-1 4G/5G polymorphisms in multiple sclerosis.

Towards a European consensus for reporting incidental findings during clinical NGS testing

Using literature-based discovery to identify novel therapeutic approaches

Y chromosome azoospermia factor region microdeletions are not associated with idiopathic recurrent spontaneous abortion in a Slovenian population: association study and literature review.

Y chromosome microdeletions in infertile men with cryptorchidism.