Publications by authors named "Borut Peterlin"

100Publications

Improving diagnostics of rare genetic diseases with NGS approaches.

J Community Genet 2021 Jan 15. Epub 2021 Jan 15.

Clinical Institute of Genomic Medicine, University medical Centre Ljubljana, Zaloška cesta 7, Ljubljana, Slovenia.

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January 2021

Nutraceutical Approaches of Autophagy and Neuroinflammation in Alzheimer's Disease: A Systematic Review.

Molecules 2020 Dec 18;25(24). Epub 2020 Dec 18.

Department of Nutritional Sciences, University of Vienna, A-1090 Vienna, Austria.

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December 2020

Genetics-Related Activities in Everyday Practice of Family Physicians in Slovenia.

Public Health Genomics 2020 Nov 23:1-7. Epub 2020 Nov 23.

Department of Family Medicine, Faculty of Medicine, University of Maribor, Taborska, Maribor, Slovenia,

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November 2020

The Role of microRNAs in Heart Failure: A Systematic Review.

Front Cardiovasc Med 2020 15;7:161. Epub 2020 Oct 15.

Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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October 2020

Telegenetics.

Authors:
Borut Peterlin

Curr Opin Pediatr 2020 Dec;32(6):739-741

Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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December 2020

, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.

Authors:
Beatrice Costa Claudia Manzoni Manuel Bernal-Quiros Demis A Kia Miquel Aguilar Ignacio Alvarez Victoria Alvarez Ole Andreassen Maria Anfossi Silvia Bagnoli Luisa Benussi Livia Bernardi Giuliano Binetti Daniel Blackburn Mercè Boada Barbara Borroni Lucy Bowns Geir Bråthen Amalia C Bruni Huei-Hsin Chiang Jordi Clarimon Shuna Colville Maria E Conidi Tom E Cope Carlos Cruchaga Chiara Cupidi Maria Elena Di Battista Janine Diehl-Schmid Monica Diez-Fairen Oriol Dols-Icardo Elisabetta Durante Dušan Flisar Francesca Frangipane Daniela Galimberti Maura Gallo Maurizio Gallucci Roberta Ghidoni Caroline Graff Jordan H Grafman Murray Grossman John Hardy Isabel Hernández Guy J T Holloway Edward D Huey Ignacio Illán-Gala Anna Karydas Behzad Khoshnood Milica G Kramberger Mark Kristiansen Patrick A Lewis Alberto Lleó Gaganjit K Madhan Raffaele Maletta Aleš Maver Manuel Menendez-Gonzalez Graziella Milan Bruce Miller Merel O Mol Parastoo Momeni Sonia Moreno-Grau Chris M Morris Benedetta Nacmias Christer Nilsson Valeria Novelli Linn Öijerstedt Alessandro Padovani Suvankar Pal Yasmin Panchbhaya Pau Pastor Borut Peterlin Irene Piaceri Stuart Pickering-Brown Yolande A L Pijnenburg Annibale A Puca Innocenzo Rainero Antonella Rendina Anna M T Richardson Ekaterina Rogaeva Boris Rogelj Sara Rollinson Giacomina Rossi Carola Rossmeier James B Rowe Elisa Rubino Agustín Ruiz Raquel Sanchez-Valle Sigrid B Sando Alexander F Santillo Jennifer Saxon Elio Scarpini Maria Serpente Nicoletta Smirne Sandro Sorbi EunRan Suh Fabrizio Tagliavini Jennifer C Thompson John Q Trojanowski Vivianna M Van Deerlin Julie Van der Zee Christine Van Broeckhoven Jeroen van Rooij John C Van Swieten Arianna Veronesi Emilia Vitale Maria L Waldö Cathy Woodward Jennifer Yokoyama Valentina Escott-Price James M Polke Raffaele Ferrari

Neurology 2020 12 17;95(24):e3288-e3302. Epub 2020 Sep 17.

From the Institute of Neurology (B.C., D.A.K., J.H., P.A.L., R.F.), School of Pharmacy (C.M.), and UCL Movement Disorders Centre (J.H.), University College London; School of Pharmacy (C.M., P.A.L.), University of Reading, Whiteknights; Neurogenetics Laboratory (M.B.-Q., C.W., J.M.P.), National Hospital for Neurology and Neurosurgery, London, UK; Aptima Clinic (Miquel Aguilar), Terrassa; Memory Disorders Unit, Department of Neurology (I.A., M.D.-F., P.P.), University Hospital Mutua de Terrassa, Barcelona; Hospital Universitario Central de Asturias (V.A., M.M.-G.), Oviedo, Spain; NORMENT (O.A.), Institute of Clinical Medicine, University of Oslo, Norway; Regional Neurogenetic Centre (Maria Anfossi, Livia Bernardi, A.C.B., M.E.C., Chiara Cupidi, F.F., Maura Gallo, R.M., N.S.), ASPCZ, Lamezia Terme; Department of Neuroscience, Psychology, Drug Research and Child Health (S.B., B.N., I.P., S.S.), University of Florence; Molecular Markers Laboratory (Luisa Benussi, Giuliano Binetti, R.G.), IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy; Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience (D.B.), University of Sheffield, UK; Research Center and Memory Clinic (M.B., I.H., S.M.-G., Agustín Ruiz), Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya (UIC), Barcelona, Spain; Centre for Neurodegenerative Disorders (B.B., A.P.), Department of Clinical and Experimental Sciences, University of Brescia, Italy; Department of Clinical Neurosciences (Lucy Bowns, T.E.C., J.B.R.), Cambridge University, UK; Department of Neurology (Geir Bråthen, S.B.S.), University Hospital of Trondheim, Norway; Dept NVS, Division of Neurogeriatrics (H.-H.C., C.G., B.K., L.Ö.), Karolinska Institutet, Bioclinicum Solna, Sweden; Department of Neurology (J.C., O.D.-I., I.I.-G., A.L.), IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain; Anne Rowling Regenerative Neurology Clinic (S.C., G.J.T.H., S.P.) and Centre for Clinical Brain Sciences (S.P.), University of Edinburgh, UK; NeuroGenomics and Informatics, Department of Psychiatry (Carlos Cruchaga), Washington University, St. Louis, MO; Cognitive Impairment Center (M.E.D.B., Maurizio Gallucci) and Immunohematology and Transfusional Medicine Service (E.D., A.V.), Local Health Authority n.2 Marca Trevigiana, Treviso, Italy; Department of Psychiatry and Psychotherapy (J.D.-S., C.R.), School of Medicine, Technical University of Munich, Germany; Department of Neurology (D.F., M.G.K.) and Clinical Institute of Medical Genetics (A.M., B.P.), University Medical Center Ljubljana, Slovenia; Dino Ferrari Center (D.G., Elio Scarpini, M.S.), University of Milan, Italy; Cognitive Neuroscience Lab, Think and Speak Lab (J.H.G.), Shirley Ryan Ability Lab, Chicago, IL; Department of Pathology and Laboratory Medicine (Murray Grossman, EunRan Suh, J.Q.T., V.M.V.D.), Center for Neurodegenerative Diseases, Perelman School of Medicine at the University of Pennsylvania, Philadelphia; UCL Dementia Research Institute (J.H.), London; Reta Lila Weston Institute (J.H.), UCL Queen Square Institute of Neurology, UK; Institute for Advanced Study (J.H.), The Hong Kong University of Science and Technology, China; Royal Edinburgh Hospital (G.J.T.H.), UK; Taub Institute for Research on Alzheimer's Disease and the Aging Brain (E.D.H.), Columbia University, New York, NY; Department of Neurology, Memory and Aging Center (A.K., B.M., J.Y.), University of California, San Francisco; UCL Genomics (M.K., G.K.M., Y.P.), UCL Great Ormond Street Institute of Child Health, London, UK; Geriatric Center Frullone ASL Napoli 1 Centro (G.M.), Napoli, Italy; Department of Neurology (M.O.M., J.v.R., J.C.V.S.), Erasmus Medical Center, Rotterdam, the Netherlands; Rona Holdings (P.M.), Silicon Valley, CA; Newcastle Brain Tissue Resource, Institute of Neuroscience (C.M.M.), Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne, UK; Department of Neurology (C.N.), Skåne University Hospital, Malmö, Sweden; Fondazione Policlinico Universitario A. Gemelli IRCCS (V.N.), Rome, Italy; Division of Neuroscience & Experimental Psychology (S.P.-B., A.M.T.R., S.R., J.C.T.), University of Manchester, UK; Amsterdam University Medical Center (Y.A.L.P.), VU University Medical Center, the Netherlands; Cardiovascular Research Unit (A.A.P.), IRCCS Multimedica, Milan; Neurology I, Department of Neuroscience (I.R., Elisa Rubino), University of Torino; NeurOMICS laboratory (G.M., Antonella Rendina, E.V.), Institute of Biochemistry and Cell Biology (IBBC), CNR Napoli, Italy; Manchester Centre for Clinical Neurosciences (A.M.T.R., J.S., J.C.T.), Salford Royal NHS Trust, Manchester, UK; Tanz Centre for Research in Neurodegenerative Diseases (Ekaterina Rogaeva), University of Toronto, Canada; Department of Biotechnology (B.R.), Jožef Stefan Institute, Ljubljana, Slovenia; Division of Neurology V and Neuropathology (G.R., F.T.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Alzheimer's Disease and Other Cognitive Disorders Unit (R.S.-V.), Hospital Clínic of Barcelona, Spain; Clinical Memory Research Unit, Department of Clinical Sciences Malmö (C.N., A.F.S.), and Division of Clinical Sciences Helsingborg, Department of Clinical Sciences Lund (M.L.W.), Lund University, Sweden; Neurodegenerative Brain Diseases Group (J.V.d.Z., C.V.B.), Center for Molecular Neurology, VIB, Antwerp, Belgium; Medical Research Council Centre for Neuropsychiatric Genetics and Genomics (V.E.-P.), Division of Psychological Medicine and Clinical Neurosciences and Dementia Research Institute, Cardiff University, UK; Instituto de Investigación Sanitaria del Principado de Asturias (V.A.), Oviedo, Asturias; Fundació per la Recerca Biomèdica i Social Mútua Terrassa (I.A., M.D.-F., P.P.), Barcelona; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.B., J.C., O.D.-I., I.H., I.I.-G., A.L., S.M.-G., Agustín Ruiz), Instituto de Salud Carlos III, Madrid, Spain; MRC Cognition and Brain Sciences Unit (Lucy Bowns, T.E.C., J.B.R.), Cambridge University, UK; Department of Neuromedicine and Movement Science (Geir Bråthen, S.B.S.), Norwegian University of Science and Technology, Trondheim, Norway; Unit for Hereditary Dementias (H.-H.C., C.G., B.K., L.Ö.), Theme Aging, Karolinska University Hospital, Solna, Sweden; Medical Faculty (D.F., M.G.K.), University of Ljubljana, Slovenia; Fondazione IRCCS Ca'Granda (D.G., Elio Scarpini, M.S.), Ospedale Policlinico, Milan, Italy; Penn Center for Frontotemporal Degeneration (Murray Grossman), Philadelphia, PA; Universidad de Oviedo (M.M.-G.), Asturias, Spain; IRCCS Fondazione Don Carlo Gnocchi (B.N., S.S.), Florence; Istituto di Medicina Genomica (V.N.), Università Cattolica del sacro Cuore, Rome, Italy; Amsterdam Neuroscience (Y.A.L.P.), the Netherlands; Department of Medicine and Surgery (A.A.P.), University of Salerno, Baronissi (SA), Italy; Faculty of Chemistry and Chemical Technology (B.R.), University of Ljubljana, Slovenia; Institud d'Investigacions Biomèdiques August Pi i Sunyer (R.S.-V.), Barcelona, Spain; Department of Biomedical Sciences (J.V.d.Z., C.V.B.), University of Antwerp, Belgium; and Department of Comparative Biomedical Sciences (P.A.L.), The Royal Veterinary College, London, UK.

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December 2020

Vitamin D receptor polymorphisms in spontaneous preterm birth: a case-control study.

Croat Med J 2020 Aug;61(4):338-345

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

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August 2020

De novo mutations in idiopathic male infertility-A pilot study.

Andrology 2020 Aug 29. Epub 2020 Aug 29.

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

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August 2020

DNMT3B rs1569686 and rs2424913 gene polymorphisms are associated with positive family history of preterm birth and smoking status.

Croat Med J 2020 Feb;61(1):8-17

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

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February 2020

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 12 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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December 2019

The role of circadian rhythm in male reproduction.

Curr Opin Endocrinol Diabetes Obes 2019 12;26(6):313-316

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

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December 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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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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September 2019

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Sci Rep 2019 06 24;9(1):9171. Epub 2019 Jun 24.

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

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June 2019

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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September 2018

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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December 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 06 19;7(6):e658. Epub 2019 Apr 19.

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

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June 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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March 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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June 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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February 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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September 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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May 2019

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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December 2019

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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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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December 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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August 2018

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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December 2018

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.

Mol Cytogenet 2018 20;11:39. Epub 2018 Jun 20.

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

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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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June 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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June 2018

Genetic variation in the CLOCK gene is associated with idiopathic recurrent spontaneous abortion.

PLoS One 2018 16;13(5):e0196345. Epub 2018 May 16.

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

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August 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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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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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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April 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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May 2018

Mutations in SCN3A cause early infantile epileptic encephalopathy.

Ann Neurol 2018 04 30;83(4):703-717. Epub 2018 Mar 30.

Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.

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April 2018

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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January 2020

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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February 2018

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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October 2017

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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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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October 2017

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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March 2018

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

PLoS One 2017 30;12(6):e0180348. Epub 2017 Jun 30.

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

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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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June 2017

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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December 2016

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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February 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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March 2017

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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November 2016

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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January 2017

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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November 2016

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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December 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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February 2016

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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November 2015

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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December 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

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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September 2015

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

PLoS One 2015 27;10(4):e0125259. Epub 2015 Apr 27.

Dipartimento di Scienze Mediche e Biologiche, Università degli Studi di Udine, Udine, Italy; SOC Istituto di Patologia Clinica, Azienda Ospedaliero Universitaria di Udine, Udine, Italy.

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February 2016

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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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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March 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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July 2015

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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May 2016

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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January 2015

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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May 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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March 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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March 2014

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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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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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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May 2014

Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample.

Am J Med Genet A 2013 Oct 16;161A(10):2545-9. Epub 2013 Aug 16.

Institute of Human Genetics, University of Bonn, Bonn, Germany; Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.

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October 2013

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

Eur J Hum Genet 2014 Feb 14;22(2):160-70. Epub 2013 Aug 14.

National Centre for Medical Genetics, School of Medicine & Medical Sciences, University College Dublin, Our Lady's Children's Hospital, Dublin, Ireland.

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February 2014

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

PLoS One 2013 18;8(3):e59220. Epub 2013 Mar 18.

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

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September 2013

Genetic variation in tissue inhibitors of metalloproteinases as a risk factor for idiopathic recurrent spontaneous abortion.

Fertil Steril 2013 Jun 6;99(7):1923-9. Epub 2013 Mar 6.

Department of Biology and Medical Genetics, Faculty of Medicine, University of Rijeka, Rijeka, Croatia.

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June 2013

Using literature-based discovery to identify novel therapeutic approaches.

Cardiovasc Hematol Agents Med Chem 2013 Mar;11(1):14-24

University of Ljubljana, Medical faculty, Institute for Biostatistics and Medical Informatics, Ljubljana, Slovenia.

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March 2013

Matrix metalloproteinases 1, 2, 3 and 9 functional single-nucleotide polymorphisms in idiopathic recurrent spontaneous abortion.

Reprod Biomed Online 2012 May 24;24(5):567-75. Epub 2012 Jan 24.

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

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May 2012

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 Mar 7;158A(3):659-63. Epub 2012 Feb 7.

Department of Biology and Medical Genetics, Faculty of Medicine, University of Rijeka, Rijeka, Croatia.

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March 2012

Identifying candidate genes for Parkinson's disease by integrative genomics method.

Biochem Med (Zagreb) 2011 ;21(2):174-81

Department of Genetics, Faculty of Science, University of Tuzla, Tuzla, Bosnia and Herzegovina

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December 2011

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

Genet Test Mol Biomarkers 2012 Apr 24;16(4):259-64. Epub 2011 Oct 24.

Research Center for Genetic Engineering and Biotechnology Georgi D. Efremov, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.

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April 2012