| Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) AJ Vallejo-Vaz, CAT Stevens, ARM Lyons, KI Dharmayat, T Freiberger, ... The Lancet 398 (10312), 1713-1725, 2021 | 178 | 2021 |
| Universal screening for familial hypercholesterolemia in children G Klančar, U Grošelj, J Kovač, N Bratanič, N Bratina, ... Journal of the American College of Cardiology 66 (11), 1250-1257, 2015 | 157 | 2015 |
| Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review U Groselj, J Kovac, U Sustar, M Mlinaric, Z Fras, KT Podkrajsek, ... Atherosclerosis 277, 383-391, 2018 | 87 | 2018 |
| Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring—implications for clinical management of patients with … U Groselj, S Murko, MZ Tansek, J Kovac, AT Bakija, BR Lampret, ... Clinical biochemistry 48 (1-2), 14-18, 2015 | 60 | 2015 |
| Next generation sequencing as a follow-up test in an expanded newborn screening programme A Smon, BR Lampret, U Groselj, MZ Tansek, J Kovac, D Perko, S Bertok, ... Clinical biochemistry 52, 48-55, 2018 | 58 | 2018 |
| Next-generation sequencing in newborn screening: a review of current state ZI Remec, K Trebusak Podkrajsek, B Repic Lampret, J Kovac, U Groselj, ... Frontiers in Genetics 12, 662254, 2021 | 53 | 2021 |
| Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene U Groselj, MZ Tansek, J Kovac, T Hovnik, KT Podkrajsek, T Battelino Molecular genetics and metabolism 106 (2), 142-148, 2012 | 53 | 2012 |
| Circulating levels of miR‐122 and nonalcoholic fatty liver disease in pre‐pubertal obese children S Brandt, J Roos, E Inzaghi, P Kotnik, J Kovac, T Battelino, S Cianfarani, ... Pediatric obesity 13 (3), 175-182, 2018 | 45 | 2018 |
| TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss S Battelino, G Klancar, J Kovac, T Battelino, K Trebusak Podkrajsek European Archives of Oto-Rhino-Laryngology 273, 1151-1154, 2016 | 39 | 2016 |
| The possible influence of genetic aetiological factors on molar–incisor hypomineralisation L Hočevar, J Kovač, KT Podkrajšek, S Battelino, A Pavlič Archives of Oral Biology 118, 104848, 2020 | 37 | 2020 |
| Multifocal gastric adenocarcinoma in a patient with LRBA deficiency N Bratanič, J Kovač, K Pohar, K Trebušak Podkrajšek, A Ihan, T Battelino, ... Orphanet journal of rare diseases 12, 1-8, 2017 | 37 | 2017 |
| Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation T Hovnik, N Bratanič, KT Podkrajšek, J Kovač, D Paro, T Podnar, ... European journal of pediatrics 172, 1125-1129, 2013 | 36 | 2013 |
| Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing BR Lampret, ŽI Remec, AD Torkar, MŽ Tanšek, A Šmon, V Koračin, V Čuk, ... Slovenian Journal of Public Health 59 (4), 256-263, 2020 | 35 | 2020 |
| Extracellular vesicles derived human-miRNAs modulate the immune system in type 1 diabetes T Tesovnik, J Kovač, K Pohar, S Hudoklin, K Dovč, N Bratina, ... Frontiers in Cell and Developmental Biology 8, 202, 2020 | 35 | 2020 |
| Pathogenesis of Type 1 Diabetes: Established Facts and New Insights A Zajec, K Trebušak Podkrajšek, T Tesovnik, R Šket, B Čugalj Kern, ... Genes 13 (4), 706, 2022 | 31 | 2022 |
| High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature L Stavber, T Hovnik, P Kotnik, L Lovrečić, J Kovač, T Tesovnik, S Bertok, ... European journal of endocrinology 182 (3), 243-253, 2020 | 29 | 2020 |
| Challenges in identifying large germline structural variants for clinical use by long read sequencing BJ Bizjan, T Katsila, T Tesovnik, R Šket, M Debeljak, MT Matsoukas, ... Computational and structural biotechnology journal 18, 83-92, 2020 | 27 | 2020 |
| Rare single nucleotide polymorphisms in the regulatory regions of the superoxide dismutase genes in autism spectrum disorder J Kovač, M Macedoni Lukšič, K Trebušak Podkrajšek, G Klančar, ... Autism Research 7 (1), 138-144, 2014 | 27 | 2014 |
| Two cases with an early presented proopiomelanocortin deficiency—a long-term follow-up and systematic literature review N Gregoric, U Groselj, N Bratina, M Debeljak, M Zerjav Tansek, ... Frontiers in Endocrinology 12, 689387, 2021 | 25 | 2021 |
| Universal screening for familial hypercholesterolemia in 2 populations U Sustar, O Kordonouri, M Mlinaric, J Kovac, S Arens, K Sedej, BJ Bizjan, ... Genetics in Medicine 24 (10), 2103-2111, 2022 | 20 | 2022 |
