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 | 774 | 2000 |
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 | 493 | 2015 |
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 | 366 | 2016 |
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 | 317 | 2005 |
Exploiting semantic relations for literature-based discovery D Hristovski, C Friedman, TC Rindflesch, B Peterlin AMIA annual symposium proceedings 2006, 349, 2006 | 227 | 2006 |
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 | 192 | 2017 |
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 | 186 | 2001 |
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 | 159 | 2014 |
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 | 157 | 2002 |
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 | 156 | 2008 |
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 | 143 | 2005 |
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 | 140 | 2015 |
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 | 127 | 2014 |
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 | 126 | 2018 |
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 | 126 | 2017 |
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 | 125 | 2015 |
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 | 125 | 2008 |
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 | 116 | 2007 |
The role of microbiota in depression-a brief review B Zalar, A Haslberger, B Peterlin Psychiatria danubina 30 (2), 136-141, 2018 | 113 | 2018 |
Vaginal microbiome signature is associated with spontaneous preterm delivery K Hočevar, A Maver, M Vidmar Šimic, A Hodžić, A Haslberger, ... Frontiers in medicine 6, 201, 2019 | 110 | 2019 |