Borut Peterlin

Borut Peterlin

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Borut Peterlin

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Screening for Rare Genetic Variants Associated with Atherosclerosis: Opportunity for Personalized Medicine.

Curr Vasc Pharmacol 2019 ;17(1):25-28

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://www.eurekaselect.com/159587/article
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http://dx.doi.org/10.2174/1570161116666180206111725DOI Listing
January 2020

Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.

Eur J Med Genet 2019 Dec 10;62(12):103598. Epub 2018 Dec 10.

Clinical Institute of Medical Genetics, Šlajmerjeva 4, University Medical Centre Ljubljana, Ljubljana, Slovenia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.12.003DOI Listing
December 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

The role of circadian rhythm in male reproduction.

Curr Opin Endocrinol Diabetes Obes 2019 Dec;26(6):313-316

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1097/MED.0000000000000512DOI Listing
December 2019

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

Mol Genet Genomic Med 2019 Dec 23;7(12):e980. Epub 2019 Oct 23.

Department of Gynaecology and Obstetrics, Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1002/mgg3.980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900363PMC
December 2019

Circadian clock genes and circadian phenotypes in patients with myocardial infarction.

Adv Med Sci 2019 Sep 26;64(2):224-229. Epub 2019 Feb 26.

Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1016/j.advms.2018.12.003DOI Listing
September 2019

Genetic variation in the maternal vitamin D receptor FokI gene as a risk factor for recurrent pregnancy loss.

J Matern Fetal Neonatal Med 2019 Sep 16:1-6. Epub 2019 Sep 16.

Clinical Institute of Medical Genetics, UMC , Ljubljana , Slovenia.

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http://dx.doi.org/10.1080/14767058.2019.1660768DOI Listing
September 2019

Vaginal Microbiome Signature Is Associated With Spontaneous Preterm Delivery.

Front Med (Lausanne) 2019 10;6:201. Epub 2019 Sep 10.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.3389/fmed.2019.00201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746969PMC
September 2019

Circadian clock genes and myocardial infarction in patients with type 2 diabetes mellitus.

Gene 2019 Jun 21;701:98-103. Epub 2019 Mar 21.

Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Slovenia.

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http://dx.doi.org/10.1016/j.gene.2019.03.038DOI Listing
June 2019

The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy.

Mol Genet Genomic Med 2019 Jun 19;7(6):e658. Epub 2019 Apr 19.

Clinical Institute of Medical Genetics (CIMG), University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1002/mgg3.658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565594PMC
June 2019

MiRNA as biomarker for uveitis - A systematic review of the literature.

Gene 2019 May 11;696:162-175. Epub 2019 Feb 11.

Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193010
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http://dx.doi.org/10.1016/j.gene.2019.02.004DOI Listing
May 2019

Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.

Front Pharmacol 2019 14;10:240. Epub 2019 Mar 14.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.3389/fphar.2019.00240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428035PMC
March 2019

Pharmacogenomics of Multiple Sclerosis: A Systematic Review.

Front Neurol 2019 26;10:134. Epub 2019 Feb 26.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.3389/fneur.2019.00134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399303PMC
February 2019

Contemporary scope of inborn errors of metabolism involving epilepsy or seizures.

Metab Brain Dis 2018 12 13;33(6):1781-1786. Epub 2018 Jul 13.

Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariskiu 2, LT-08661, Vilnius, Lithuania.

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http://dx.doi.org/10.1007/s11011-018-0288-1DOI Listing
December 2018

Association between angiotensin-converting enzyme gene insertion/deletion polymorphism and susceptibility to preterm birth: A case-control study and meta-analysis.

Eur J Obstet Gynecol Reprod Biol 2018 Dec 11;231:122-128. Epub 2018 Sep 11.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03012115183097
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http://dx.doi.org/10.1016/j.ejogrb.2018.09.019DOI Listing
December 2018

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Am J Hum Genet 2018 12 21;103(6):995-1008. Epub 2018 Nov 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, the Netherlands; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288205PMC
December 2018

ASSOCIATION OF CIRCADIAN RHYTHM WITH MYOCARDIAL INFARCTION.

Acta Clin Croat 2018 Sep;57(3):480-486

1Department of Medical Biology and Genetics, Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia; 2Department of Biology and Chemistry, Faculty of Dental Medicine and Health, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia; 3Division of Cardiovascular Diseases and Intensive Care, Department of Internal Medicine, Osijek University Hospital Centre, Osijek, Croatia; 4Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.20471/acc.2018.57.03.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536290PMC
September 2018

DNA Methylation Profiles in Whole Blood of Huntington's Disease Patients.

Front Neurol 2018 14;9:655. Epub 2018 Aug 14.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.3389/fneur.2018.00655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104454PMC
August 2018

The Role of Microbiota in Depression - a brief review.

Psychiatr Danub 2018 Jun;30(2):136-141

University Psychiatric Clinic Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.24869/psyd.2018.136DOI Listing
June 2018

Clinical exome sequencing in dementias: a preliminary study.

Psychiatr Danub 2018 Jun;30(2):216-219

University Psychiatric Clinic Ljubljana, Studenec 48, 1260 Ljubljana, Slovenia,

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http://dx.doi.org/10.24869/psyd.2018.216DOI Listing
June 2018

Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping.

J Appl Genet 2018 May 21;59(2):179-185. Epub 2018 Mar 21.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slajmerjeva 4, 1000, Ljubljana, Slovenia.

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http://link.springer.com/10.1007/s13353-018-0440-y
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http://dx.doi.org/10.1007/s13353-018-0440-yDOI Listing
May 2018

Sarcoidosis Related Novel Candidate Genes Identified by Multi-Omics Integrative Analyses.

OMICS 2018 05 24;22(5):322-331. Epub 2018 Apr 24.

1 Clinical Institute of Medical Genetics, University Medical Centre Ljubljana , Ljubljana, Slovenia .

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http://dx.doi.org/10.1089/omi.2018.0027DOI Listing
May 2018

Genetic variations in circadian rhythm genes and susceptibility for myocardial infarction.

Genet Mol Biol 2018 Apr./Jun;41(2):403-409. Epub 2018 May 14.

Department of Medical Biology and Genetics, Faculty of Medicine, J. J. Strossmayer University of Osijek, Croatia.

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http://dx.doi.org/10.1590/1678-4685-GMB-2017-0147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082246PMC
May 2018

Transcriptomic Biomarkers for Huntington's Disease: Are Gene Expression Signatures in Whole Blood Reliable Biomarkers?

OMICS 2018 04;22(4):283-294

2 Clinical Institute of Medical Genetics, University Medical Centre Ljubljana , Ljubljana, Slovenia .

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http://dx.doi.org/10.1089/omi.2017.0206DOI Listing
April 2018

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.

Genet Med 2018 03 14;20(3):303-312. Epub 2017 Sep 14.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1038/gim.2017.142DOI Listing
March 2018

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

PLoS One 2018 2;13(1):e0188578. Epub 2018 Jan 2.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0188578PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749682PMC
February 2018

A Single Nucleotide Polymorphism of DNA methyltransferase 3B gene is a risk factor for recurrent spontaneous abortion.

Am J Reprod Immunol 2017 Dec 20;78(6). Epub 2017 Sep 20.

Department of Gynaecology and Obstetrics, Clinical Institute of Medical Genetics, UMC Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1111/aji.12765DOI Listing
December 2017

Analysis of blood-based gene expression in idiopathic Parkinson disease.

Neurology 2017 Oct 15;89(16):1676-1683. Epub 2017 Sep 15.

From the School of Computer Science (R.S., D.A., H.S.), Tel Aviv University, Israel; Institute of Neurogenetics (C.K., E.-J.V., H.P., M.K.), University of Lübeck, Germany; Department of Psychiatry and Psychotherapy (E.-J.V., M.K.), University of Lübeck, Germany; Institute of Medical Genetics and Applied Genomics (M.B., S.P., O.R.), University of Tübingen, Germany; IMGM Laboratories GmbH (M.B.), Martinsried, Germany; Mediterranean Institute for Life Sciences (M.U.), Split, Croatia; Department of Neurology (Y.C.W., D.K.), Northwestern University Feinberg School of Medicine, Chicago, IL; Clinical Institute of Medical Genetics (A.M., B.P.), University Medical Center Ljubljana, Slovenia; Sorbonne Universités (J.C.-C., S.L., A.B.), UPMC Université Paris 6 UMR S 1127, Inserm U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Centre d'Investigation Clinique Pitié Neurosciences CIC-1422 (J.C.-C.), Paris, France; Machine Learning Technologies Group (O.L.), IBM Research-Haifa, Mount Carmel, Israel; Department of Neurology (G.D., G.K.), Kiel University, Germany; and Department of Biological Regulation (I.U.), Weizmann Institute of Science, Rehovot, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000004516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644465PMC
October 2017

Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21.

OMICS 2017 10;21(10):565-570

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana , Ljubljana, Slovenia .

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http://dx.doi.org/10.1089/omi.2017.0123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655413PMC
October 2017

Angiotensin-converting enzyme insertion/deletion gene polymorphism and interferon-β treatment response in multiple sclerosis patients: a preliminary report.

Pharmacogenet Genomics 2017 06;27(6):232-235

aDepartment of Biology and Medical Genetics bSchool of Medicine, University of Rijeka cDepartment of Neurology, Clinical Hospital Center Rijeka, Rijeka, Croatia dClinical Institute of Medical Genetics eDepartment of Neurology, University Medical Centre, Ljubljana, Slovenia.

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http://dx.doi.org/10.1097/FPC.0000000000000283DOI Listing
June 2017

Functional single nucleotide polymorphisms of matrix metalloproteinase 7 and 12 genes in idiopathic recurrent spontaneous abortion.

J Assist Reprod Genet 2017 Mar 17;34(3):365-371. Epub 2016 Dec 17.

Department of Biology and Medical Genetics, Faculty of Medicine, University of Rijeka, B. Branchetta 20, 51000, Rijeka, Croatia.

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http://dx.doi.org/10.1007/s10815-016-0848-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360680PMC
March 2017

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

J Med Syst 2017 Feb 17;41(2):21. Epub 2016 Dec 17.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1007/s10916-016-0666-3DOI Listing
February 2017

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

Fertil Steril 2017 01 11;107(1):150-159.e2. Epub 2016 Nov 11.

Clinical Institute of Medical Genetics, Department of Gynecology and Obstetrics, University Medical Center, Ljubljana, Slovenia.

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http://dx.doi.org/10.1016/j.fertnstert.2016.10.007DOI Listing
January 2017

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

Neurol Sci 2016 Dec 27;37(12):1955-1959. Epub 2016 Aug 27.

Clinical Institute of Medical Genetics, University Medical Centre, Ljubljana, Slovenia.

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http://dx.doi.org/10.1007/s10072-016-2698-3DOI Listing
December 2016

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

Croat Med J 2016 Dec;57(6):566-571

Borut Peterlin, Clinical Institute of Medical Genetics, Division of Obstetrics and Gynecology, University Medical Center Ljubljana, Zaloška cesta 7, 1000 Ljubljana, Slovenia,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209929PMC
http://dx.doi.org/10.3325/cmj.2016.57.566DOI Listing
December 2016

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.

Genet Med 2016 11 31;18(11):1102-1110. Epub 2016 Mar 31.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1038/gim.2016.22DOI Listing
November 2016

Clinical utility of array comparative genomic hybridisation in prenatal setting.

BMC Med Genet 2016 Nov 15;17(1):81. Epub 2016 Nov 15.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slajmerjeva 3, SI-1000, Ljubljana, Slovenia.

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http://dx.doi.org/10.1186/s12881-016-0345-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111187PMC
November 2016

Omics technologies and neovascular ocular disorders.

Biomed Res Int 2014 26;2014:231348. Epub 2014 May 26.

Department of Ophthalmology, University of Szeged, Szeged 6700, Hungary.

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http://dx.doi.org/10.1155/2014/231348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4058196PMC
May 2016

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

Int J Prosthodont 2015 Nov-Dec;28(6):594-9

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http://dx.doi.org/10.11607/ijp.4126DOI Listing
February 2016

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

Reprod Biomed Online 2016 Feb 23;32(2):237-46. Epub 2015 Nov 23.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.

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http://dx.doi.org/10.1016/j.rbmo.2015.11.003DOI Listing
February 2016

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

J Assist Reprod Genet 2015 Dec 16;32(12):1789-94. Epub 2015 Oct 16.

Department of Gynaecology and Obstetrics, Clinical Institute of Medical Genetics, UMC Ljubljana, Ljubljana, 1000, Slovenia.

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http://dx.doi.org/10.1007/s10815-015-0593-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681729PMC
December 2015

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

Mol Cytogenet 2015 31;8:83. Epub 2015 Oct 31.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slajmerjeva 3, SI-1000 Ljubljana, Slovenia.

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http://www.molecularcytogenetics.org/content/8/1/83
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http://dx.doi.org/10.1186/s13039-015-0187-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628305PMC
November 2015

MMP-2 -1575G/A polymorphism modifies the onset of optic neuritis as a first presenting symptom in MS?

J Neuroimmunol 2015 Sep 2;286:13-5. Epub 2015 Jul 2.

Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia. Electronic address:

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http://dx.doi.org/10.1016/j.jneuroim.2015.06.014DOI Listing
September 2015

Common chitotriosidase duplication gene polymorphism and clinical outcome status in sarcoidosis.

Sarcoidosis Vasc Diffuse Lung Dis 2015 Sep 14;32(3):194-9. Epub 2015 Sep 14.

Department of pulmonary diseases, University Medical Centre Ljubljana.

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September 2015

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

Dis Markers 2014 28;2014:171036. Epub 2014 Oct 28.

Clinical Institute of Medical Genetics, Department of Gynaecology and Obstetrics, University Medical Center Ljubljana, Šlajmerjeva 3, 1000 Ljubljana, Slovenia.

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http://dx.doi.org/10.1155/2014/171036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228702PMC
July 2015

Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012].

Am J Med Genet A 2015 Jun 21;167(6):1426-7. Epub 2015 Apr 21.

Department of Gynaecology and Obstetrics, Institute of Medical Genetics, UMC Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1002/ajmg.a.36974DOI Listing
June 2015

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

Biochem Med (Zagreb) 2015 ;25(1):84-9

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.11613/BM.2015.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401315PMC
March 2015

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

Dis Markers 2014 16;2014:362708. Epub 2014 Apr 16.

Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, 51000 Rijeka, Croatia ; Department of Neurology, Clinical Hospital Center Rijeka, 51000 Rijeka, Croatia.

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http://dx.doi.org/10.1155/2014/362708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4009184PMC
January 2015

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

Biomed Res Int 2013 24;2013:848952. Epub 2013 Nov 24.

Institute of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, 3 Šlajmerjeva Street, 1000 Ljubljana, Slovenia.

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http://dx.doi.org/10.1155/2013/848952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3857903PMC
August 2014

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

PLoS One 2013 6;8(11):e80333. Epub 2013 Nov 6.

Department of Family Medicine, Medical School, University of Ljubljana, Ljubljana, Slovenia ; Department of Family Medicine, Medical School, University of Maribor, Maribor, Slovenia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080333PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819284PMC
June 2014

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

PLoS One 2013 16;8(9):e74184. Epub 2013 Sep 16.

Clinical Institute of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Center, Ljubljana, Ljubljana, Slovenia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0074184PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774664PMC
May 2014

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

Clin Biochem 2014 May 28;47(7-8):574-7. Epub 2014 Mar 28.

Clinical Institute of Medical Genetics, University Clinical Centre Ljubljana, Zaloška 7, SI-1000 Ljubljana, Slovenia.

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http://dx.doi.org/10.1016/j.clinbiochem.2014.03.012DOI Listing
May 2014

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

Med Sci Monit 2014 Mar 17;20:434-7. Epub 2014 Mar 17.

Clinical Institute of Medical Genetics, University Medical Center, Ljubljana, Slovenia.

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http://dx.doi.org/10.12659/MSM.890013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962323PMC
March 2014

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

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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December 2008