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Borut Peterlin
Borut Peterlin
University Medical Center Ljubljana and Faculty of Medicine, University of Rijeka and University
Verified email at guest.arnes.si
Title
Cited by
Cited by
Year
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language
ZH Rosser, T Zerjal, ME Hurles, M Adojaan, D Alavantic, A Amorim, ...
The American Journal of Human Genetics 67 (6), 1526-1543, 2000
7572000
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
W Dondorp, G De Wert, Y Bombard, DW Bianchi, C Bergmann, P Borry, ...
European Journal of Human Genetics 23 (11), 1438-1450, 2015
4642015
Responsible implementation of expanded carrier screening
L Henneman, P Borry, D Chokoshvili, MC Cornel, CG van El, F Forzano, ...
European journal of human genetics 24 (6), e1-e12, 2016
3372016
Using literature-based discovery to identify disease candidate genes
D Hristovski, B Peterlin, JA Mitchell, SM Humphrey
International journal of medical informatics 74 (2-4), 289-298, 2005
3132005
Exploiting semantic relations for literature-based discovery
D Hristovski, C Friedman, TC Rindflesch, B Peterlin
AMIA annual symposium proceedings 2006, 349, 2006
2222006
Supporting discovery in medicine by association rule mining in Medline and UMLS
D Hristovski, J Stare, B Peterlin, S Dzeroski
MEDINFO 2001, 1344-1348, 2001
1822001
Systematic review and meta-analysis of genetic association studies in idiopathic recurrent spontaneous abortion
N Pereza, S Ostojić, M Kapović, B Peterlin
Fertility and sterility 107 (1), 150-159. e2, 2017
1762017
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)
M Claustres, V Kožich, E Dequeker, B Fowler, JY Hehir-Kwa, K Miller, ...
European journal of human genetics 22 (2), 160-170, 2014
1532014
Screening for Y chromosome microdeletions in 226 Slovenian subfertile men
B Peterlin, T Kunej, J Sinkovec, N Gligorievska, B Zorn
Human reproduction 17 (1), 17-24, 2002
1512002
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
AM Alazami, A Al-Saif, A Al-Semari, S Bohlega, S Zlitni, F Alzahrani, ...
The American Journal of Human Genetics 83 (6), 684-691, 2008
1502008
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults
RB Graham, M Nolasco, B Peterlin, CK Garcia
American journal of respiratory and critical care medicine 172 (1), 39-44, 2005
1352005
Therapeutic perspectives of epigenetically active nutrients
M Remely, L Lovrecic, AL De La Garza, L Migliore, B Peterlin, FI Milagro, ...
British journal of pharmacology 172 (11), 2756-2768, 2015
1342015
Local and genetic determinants of vascular endothelial growth factor expression in advanced proliferative diabetic retinopathy
MG Petrovič, P Korošec, M Košnik, J Osredkar, M Hawlina, B Peterlin, ...
Molecular Vision 14, 1382, 2008
1232008
Towards a European consensus for reporting incidental findings during clinical NGS testing
JY Hehir-Kwa, M Claustres, RJ Hastings, C van Ravenswaaij-Arts, ...
European Journal of Human Genetics 23 (12), 1601-1606, 2015
1202015
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ...
Genome biology 15, 1-18, 2014
1192014
Genetic polymorphisms in vasoactive genes and preeclampsia: a meta-analysis
I Medica, A Kastrin, B Peterlin
European Journal of Obstetrics & Gynecology and Reproductive Biology 131 (2 …, 2007
1142007
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
NT Loges, D Antony, A Maver, MA Deardorff, EY Güleç, A Gezdirici, ...
The American Journal of Human Genetics 103 (6), 995-1008, 2018
1112018
Analysis of blood-based gene expression in idiopathic Parkinson disease
R Shamir, C Klein, D Amar, EJ Vollstedt, M Bonin, M Usenovic, YC Wong, ...
Neurology 89 (16), 1676-1683, 2017
1082017
The role of microbiota in depression-a brief review
B Zalar, A Haslberger, B Peterlin
Psychiatria danubina 30 (2), 136-141, 2018
1022018
Mutations in SCN3A cause early infantile epileptic encephalopathy
T Zaman, I Helbig, IB Božović, SD DeBrosse, AC Bergqvist, K Wallis, ...
Annals of neurology 83 (4), 703-717, 2018
932018
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