Overview of the current status of familial hypercholesterolaemia care in over 60 countries-The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) AJ Vallejo-Vaz, M De Marco, CAT Stevens, A Akram, T Freiberger, ... Atherosclerosis 277, 234-255, 2018 | 198 | 2018 |
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 | 186 | 2021 |
Neonatal screening in Europe revisited: an ISNS perspective on the current state and developments since 2010 JG Loeber, D Platis, RH Zetterström, S Almashanu, F Boemer, ... International journal of neonatal screening 7 (1), 15, 2021 | 186 | 2021 |
Reducing the clinical and public health burden of familial hypercholesterolemia: a global call to action KA Wilemon, J Patel, C Aguilar-Salinas, CD Ahmed, M Alkhnifsawi, ... JAMA cardiology 5 (2), 217-229, 2020 | 181 | 2020 |
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 |
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study TR Tromp, ML Hartgers, GK Hovingh, AJ Vallejo-Vaz, KK Ray, H Soran, ... The Lancet 399 (10326), 719-728, 2022 | 98 | 2022 |
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 | 89 | 2018 |
Economic and social impacts of COVID-19 and public health measures: results from an anonymous online survey in Thailand, Malaysia, the UK, Italy and Slovenia A Osterrieder, G Cuman, W Pan-Ngum, PK Cheah, PK Cheah, ... BMJ open 11 (7), e046863, 2021 | 85* | 2021 |
Newborn screening in southeastern Europe U Groselj, MZ Tansek, A Smon, N Angelkova, D Anton, I Baric, ... Molecular genetics and metabolism 113 (1-2), 42-45, 2014 | 70 | 2014 |
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 | 62 | 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 | 61 | 2021 |
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 | 61 | 2015 |
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 | 54 | 2012 |
Paediatric familial hypercholesterolaemia screening in Europe: public policy background and recommendations SS Gidding, A Wiegman, U Groselj, T Freiberger, N Peretti, KI Dharmayat, ... European journal of preventive cardiology 29 (18), 2301-2311, 2022 | 53 | 2022 |
Phenylketonuria screening and management in southeastern Europe–survey results from 11 countries M Zerjav Tansek, U Groselj, N Angelkova, D Anton, I Baric, M Djordjevic, ... Orphanet journal of rare diseases 10, 1-7, 2015 | 53 | 2015 |
Screening in children for familial hypercholesterolaemia: start now U Groselj, A Wiegman, SS Gidding European Heart Journal 43 (34), 3209-3212, 2022 | 50 | 2022 |
Fifty years of phenylketonuria newborn screening—A great success for many, but what about the rest? U Groselj, MZ Tansek, T Battelino Molecular genetics and metabolism 113 (1-2), 8-10, 2014 | 47 | 2014 |
Carotid intima-media thickness in healthy children and adolescents: normative data and systematic literature review A Drole Torkar, E Plesnik, U Groselj, T Battelino, P Kotnik Frontiers in Cardiovascular Medicine 7, 597768, 2020 | 45 | 2020 |
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 | 38 | 2020 |
Ethics of vaccination in childhood—A framework based on the four principles of biomedical ethics M Rus, U Groselj Vaccines 9 (2), 113, 2021 | 36 | 2021 |