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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
7532000
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
4152015
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
3002005
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
2882016
Exploiting semantic relations for literature-based discovery
D Hristovski, C Friedman, TC Rindflesch, B Peterlin
AMIA annual symposium proceedings 2006, 349, 2006
2132006
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
1792001
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
1462017
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
1422002
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
1412014
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
1342008
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
1272005
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
1172015
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
1152008
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
1112014
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
1092015
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
1062007
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
922018
Improving literature based discovery support by genetic knowledge integration
D Hristovski, B Peterlin, JA Mitchell, SM Humphrey
The New Navigators: from Professionals to Patients, 68-73, 2003
912003
The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28
A Smahl, C Hyden-Granskog, B Peterlin, P Vabres, S Heuertz, ...
Human molecular genetics 3 (2), 273-278, 1994
871994
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
852017
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