| Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases G Bergant, A Maver, L Lovrecic, G Čuturilo, A Hodzic, B Peterlin Genetics in Medicine 20 (3), 303-312, 2018 | 70 | 2018 |
| Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism T Wirth, LL Mariani, G Bergant, M Baulac, MO Habert, N Drouot, E Ollivier, ... Movement Disorders 35 (5), 880-885, 2020 | 28 | 2020 |
| Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy A Ahmed, M Wang, G Bergant, R Maroofian, R Zhao, M Alfadhel, ... Human Genetics 140, 579-592, 2021 | 13 | 2021 |
| Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration A Vetro, C Pelorosso, S Balestrini, A Masi, S Hambleton, E Argilli, V Conti, ... The American Journal of Human Genetics 110 (8), 1356-1376, 2023 | 10 | 2023 |
| A multicenter study of genetic testing for Parkinson’s disease in the clinical setting A Kovanda, V Rački, G Bergant, D Georgiev, D Flisar, E Papić, ... npj Parkinson's Disease 8 (1), 149, 2022 | 8 | 2022 |
| Outcomes of vitrectomy for retinal detachment in a patient with Ehlers–Danlos syndrome type IV: a case report X Lumi, G Bergant, A Lumi, M Mahnic Journal of Medical Case Reports 15, 1-6, 2021 | 8 | 2021 |
| Whole-genome sequencing in diagnostics of selected slovenian undiagnosed patients with rare disorders G Bergant, A Maver, B Peterlin Life 11 (3), 205, 2021 | 8 | 2021 |
| The role of next generation sequencing in the differential diagnosis of caroli’s syndrome B Smolović, D Muhović, A Hodžić, G Bergant, B Peterlin Balkan Journal of Medical Genetics 21 (2), 49-53, 2018 | 7 | 2018 |
| Expression of markers of endometrial receptivity in obese infertile PCOS women before and after the weight loss program—A preliminary study G Bergant, D Abdulkhalikova, A Šuštaršič, B Peterlin, E Vrtačnik Bokal, ... Cells 12 (1), 164, 2022 | 4 | 2022 |
| Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss T Višnjar, A Maver, K Writzl, O Maloku, G Bergant, H Jaklič, D Neubauer, ... Neurology: Genetics 8 (3), e677, 2022 | 2 | 2022 |
| Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 D Nair, D Li, H Erdogan, A Yoon, MH Harr, G Bergant, B Peterlin, ... Human Genetics and Genomics Advances 2 (2), 2021 | 2 | 2021 |
| Clinical exome sequencing in Serbian patients with movement disorders: Single centre experience M Branković, N Dragašević, V Dobričić, A Maver, G Bergant, I Petrović, ... Genetika 54 (1), 395-409, 2022 | 1 | 2022 |
| Shizofrenija z začetkom v poznem življenjskem obdobju LŽ Veranič, V Grilj, G Bergant Slovenian Medical Journal 86 (11-12), 516-522, 2017 | 1 | 2017 |
| GiOPARK Project: The Genetic Study of Parkinson’s Disease in the Croatian Population V Rački, G Bergant, E Papić, A Kovanda, M Hero, G Rožmarić, ... Genes 15 (2), 255, 2024 | | 2024 |
| Towards an evidence-based neonatal genomic screening panel AN Zimani, G Bergant, P Podbregar, N Harej, A Kovanda, A Maver, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 692-692, 2024 | | 2024 |
| Genetic evaluation of dystonia B Petek, G Bergant, V Racki, G Rozmanic, D Georgiev, V Vuletic, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 213-213, 2024 | | 2024 |
| A systematic review of the diagnostic yield of whole genome sequencing in patients with rare disorders G Bergant, B Peterlin EUROPEAN JOURNAL OF HUMAN GENETICS 32, 644-645, 2024 | | 2024 |
| P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies P Boone, K Faour, K Mohajeri, J Lemanski, B Jana, J Fu, J Kerkhof, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 D Nair, D Li, H Erdogan, A Yoon, MH Harr, G Bergant, B Peterlin, ... HGG advances 3 (4), 100122, 2022 | | 2022 |
| Characterization of disease associated tandem repeat regions in Slovenian population from exome sequencing data using Expansion Hunter G Bergant, A Maver, B Peterlin EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 442-442, 2022 | | 2022 |
