1. Expression of markers of endometrial receptivity in obese infertile PCOS women before and after the weight loss program : a preliminary studyGaber Bergant, Dzhamilyat Abdulkhalikova, Ana Glavač, Borut Peterlin, Eda Vrtačnik-Bokal, Aleš Maver, Mateja Videmšek, Tanja Burnik Papler, 2023, original scientific article Keywords: endometrial receptivity, polycystic ovaries syndrome, biomarkers, human fertilization in vitro, obesity, weight loss
Published in DiRROS: 06.08.2026; Views: 273; Downloads: 84
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2. Two cases of SPEN haploinsufficiency presenting with dystonia : expanding the genotype and phenotypeLisa Buikema, Matej Lokar, Ruben Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev, 2026, other scientific articles Keywords: dystonia, tremor, SPEN protein, haploinsuficiency, subjective well-being, chromosome 1p36, deletion syndrome, intellectual disability
Published in DiRROS: 01.07.2026; Views: 234; Downloads: 197
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3. GiOPARK Project : the genetic study of Parkinson’s Disease in the Croatian populationValentino Rački, Gaber Bergant, Eliša Papić, Anja Kovanda, Mario Hero, Gloria Rožmarić, Nada Starčević-Čizmarević, Smiljana Ristić, Saša Ostojić, Miljenko Kapović, Aleš Maver, Borut Peterlin, Vladimira Vuletić, 2024, original scientific article Keywords: Parkinson’s disease, genetic testing, whole-exome sequencing
Published in DiRROS: 09.06.2026; Views: 413; Downloads: 195
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4. Enrichment of rare variants in nuclear-encoded mitochondrial metabolism genes in patients with early-onset or familial parkinson’s diseaseGaber Bergant, Vesna M. Van Midden, Polina Tsygankova, Dorian Laslo, Valentino Rački, Dejan Georgiev, Eliša Papić, Marija Branković, Milena Janković, Marina Svetel, Nataša Teran, Natasa Dragasević Misković, Igor N. Petrović, Aleš Maver, Ivana Novaković, Zvezdan Pirtošek, Martin Rakuša, Vladimira Vuletić, Borut Peterlin, 2026, original scientific article Keywords: mitochondrial metabolism, mitochondrial variants, mutation burden analysis
Published in DiRROS: 05.05.2026; Views: 346; Downloads: 239
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5. Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian populationAleš Maver, Peter Juvan, Urška Kotnik, Luca Lovrečić, Gaber Bergant, Borut Peterlin, 2025, original scientific article Abstract: The genomic data of Central European populations is underrepresented in the publicly available databases. We present the comprehensive genomic variation of the Slovenian population, based on the genomic sequencing of 9425 non-related individuals, i.e. more than 0.44% of the Slovenian population. Over 30 million unique single nucleotide and small indel (30.8 million), copy number (217.6 thousand), and mitochondrial variants (3.3 thousand) were uncovered and annotated by analysing the whole genome of 619 individuals and the whole exome of 8806 individuals. This population variation, including 3,9 million novel variants, is presented in a publicly available genome variant browser, the SloGenVar (https://slogenvar.si). We used this newly developed resource to reveal the population frequency of pathogenic variants in the genes associated with recessive conditions. The Slovenian genome database and browser offer the largest and the most comprehensive publicly available Central European population genomic variant resource, providing an important asset for genomic studies and as a control variant database for variant interpretation in the region and beyond.
Keywords: population genomic variation, whole genome sequencing, genome browser, Slovenian genome database
Published in DiRROS: 22.12.2025; Views: 879; Downloads: 419
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