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Urška Kotnik

Personal bibliography for the period 2014-2026

2014

1. KOTNIK, Urška. Določanje novih kandidatnih genov za bolezni z analizo povezav med interaktomom in fenomom na primeru RASopatij : [raziskovalno delo]. Ljubljana: [U. Pevec], 2014. VIII, 40 f., [47] f. pril., ilustr. [COBISS.SI-ID 3436424]
2. KOTNIK, Urška, KUNEJ, Tanja. Določanje novih kandidatnih genov za bolezni z uporabo analize povezav med interaktomom in fenomom na primeru RASopatij = Identification of new candidate genes for diseases using association analysis between interactome and phenome in the case of rasopathies. In: KUNEJ, Tanja (ed.), ZORC, Minja (ed.). iTIME brainstorming : zbornik prispevkov = proceedings. 3. Simpozij raziskovalne mreže Integratomics TIME Domžale, 12. 9. 2014. Domžale: Univerza v Ljubljani, Biotehniška fakulteta, Oddelek za zootehniko, 2014. Str. 9-12. [COBISS.SI-ID 3438216]
3. ROZMAN, Neva, GORŠEK, Blaž, JEVŠINEK SKOK, Daša, KOTNIK, Urška, KUNEJ, Tanja. RASopatije kot model za študije povezav med interaktomom in fenomom = RASopathies as a model to study associations between interactome and phenome. In: KUNEJ, Tanja (ed.), OBŠTETER, Jana (ed.), JEVŠINEK SKOK, Daša (ed.). iTIME brainstorming : zbornik prispevkov = proceedings. 2. Simpozij raziskovalne mreže Integratomics TIME Domžale, 19. 12. 2013. Domžale: Univerza v Ljubljani, Biotehniška fakulteta, Oddelek za zootehniko, 2014. Str. 15-18, ilustr. [COBISS.SI-ID 3385480]
4. KOTNIK, Urška. RASopatije kot model za študije povezav med interaktomom in fenomom : diplomski seminar = RASopathies as a model to study associations between interactome and phenome : B. Sc. thesis. Ljubljana: [U. Pevec], 2014. VI, 20 f., ilustr. Biotehniška fakulteta, Študij biotehnologije, Diplomski seminar univerzitetni študij - 1. stopnja. [COBISS.SI-ID 7962489]

2015

5. KOŠENINA, Sara, KOTNIK, Urška, TROŠT, Nina, HEVIR-KENE, Neli, LANIŠNIK-RIŽNER, Tea, KOMEL, Radovan, DEBELJAK, Nataša. Characterization of erythropoietin and estrogen receptor proteins in breast cancer cell lines. In: AČIMOVIČ, Jure (ed.), et al. Book of abstracts. 10th CFGBC Symposium with ISBE and CASyM workshops From functional genomics to systems biology and systems medicine & Hands-on tutorial systems biology/medicine, Ljubljana, June 30 - July 3, 2015. Ljubljana: Faculty of Medicine, 2015. Str. 26. ISBN 978-961-267-092-4. [COBISS.SI-ID 32057049]
6. KOTNIK, Urška, ROZMAN, Neva, GORŠEK, Blaž, KUNEJ, Tanja. RASopathies : genome, interactome, and phenome level = RASopatije : genom, interaktom in fenom. In: TRAVEN, Eva (ed.), ZORC, Minja (ed.), KUNEJ, Tanja (ed.). iTIME brainstorming : zbornik prispevkov = proceedings. 4. Simpozij raziskovalne mreže Integromics TIME Domžale, 10. 7. 2015. Domžale: Univerza v Ljubljani, Biotehniška fakulteta, Oddelek za zootehniko, 2015. Str. 35-39, ilustr. [COBISS.SI-ID 3605896]

2016

7. KOTNIK, Urška, CIGOJ, Mateja, DEBELJAK, Nataša. Hormonski receptorji in njihov vpliv na lastnosti raka dojke. In: BAVEC, Aljoša (ed.), et al. BIOmolekularec.si : Dan biomolekularnih znanosti : zbornik povzetkov : Ljubljana, 22. september 2016. BIOmolekularec.si [tudi] Dan biomolekularnih znanosti, Ljubljana, 22. september 2016. Ljubljana: Slovensko biokemijsko društvo, 2016. Str. 14. ISBN 978-961-93879-2-4. http://biomolekularec.si/zbornik16.pdf. [COBISS.SI-ID 6173356]
8. CIGOJ, Mateja, KOTNIK, Urška, KOŠENINA, Sara, KOMEL, Radovan, DEBELJAK, Nataša. Normalization of erythropietin and estrogen receptors detection in breast cancer cell lines. In: URLEP, Žiga (ed.), JUVAN, Peter (ed.). Book of abstracts. Elixir-si Launch & 11th CFGBC Symposium Data for Life, Ljubljana, September 20 - September 21, 2016. Ljubljana: Faculty of Medicine, 2016. Str. 34. ISBN 978-961-267-113-6. http://cfgbc.mf.uni-lj.si/2016data4life/abstracts/Book_of_Abstracts.pdf. [COBISS.SI-ID 32831705]
9. KOTNIK, Urška, ROZMAN, Neva, GORŠEK, Blaž, KUNEJ, Tanja. RASopathies : presentation at the genome, interactome, and phenome levels. Molecular syndromology. 2016, vol. 7, no. 2, str. 72-79, ilustr. ISSN 1661-8769. http://www.karger.com/Article/Abstract/445733, DOI: 10.1159/000445733. [COBISS.SI-ID 3722888]
10. KOTNIK, Urška, CIGOJ, Mateja, KOŠENINA, Sara, KOMEL, Radovan, DEBELJAK, Nataša. Receptor characterization in tamoxifen resistant breast cancer cell line model. In: Abstract book : 1st International Conference Molecular Life of STEM Cells, MLSC 2016, 30.09.2016 - 01.10. 2016 Ljubljana, Slovenia : post transctriptional regulation and (epi)genomic engineering in STEM cells. München: HelmholtzZentrum, 2016. Str. 58-59. https://www.helmholtz-helena.de/news-events/news/news/article/36522/index.html. [COBISS.SI-ID 6173612]

2017

11. CIGOJ, Mateja, PIKŠ, Katja, LEBAR, Blaž, KOTNIK, Urška, FECKOVÁ, Barbora, SOLÁR, Peter, KOMEL, Radovan, DEBELJAK, Nataša. Characterization of erythropoietin and estrogen receptors in breast cancer cell lines by western, far-western and double blotting. In: GORIČAR, Katja (ed.), HUDLER, Petra (ed.). Book of abstracts = Zbornik povzetkov. 12th Meeting of the Slovenian Biochemical Society with International Participation = 12. srečanje Slovenskega biokemijskega društva z mednarodno udeležbo, Bled 20 - 23 september 2017. Ljubljana: Slovenian Biochemical Society, 2017. Str. 124. ISBN 978-961-93879-4-8. [COBISS.SI-ID 33514201]
12. KOTNIK, Urška. Vloga eritropoetinskega receptorja pri rezistenci na tamoksifen : magistrsko delo. Ljubljana: [U. Kotnik], 2017. 61 str., ilustr. [COBISS.SI-ID 1537490883]

2021

13. KLEMENC-KETIŠ, Zalika, KOTNIK, Urška, SELIČ-ZUPANČIČ, Polona, PETERLIN, Borut. Determining risk for diseases with genetic component using family history. In: 23rd World conference of family doctors : together we own the future : abstract book, 22-27 November 2021 : oral presentation. [S. l.: Wonca, 2021]. Str. [87]. [COBISS.SI-ID 88798723]
14. KOTNIK, Urška, PETERLIN, Borut, LOVREČIĆ, Luca. Identification of women at risk for hereditary breast and ovarian cancer in a sample of 1000 Slovenian women guidelines : a comparison of guidelines. BMC cancer. 2021, vol. 21, str. 1-9. ISSN 1471-2407. https://bmccancer.biomedcentral.com/articles/10.1186/s12885-021-08400-8, DOI: 10.1186/s12885-021-08400-8. [COBISS.SI-ID 69262339]

2022

15. KOTNIK, Urška. A case report: Pheochromocytoma a part of clinical presentation of CHEK2 : lecture at the 4th Course in Hereditary Cancer Genetics Bertinoro, Italy, 20-23 September 2022. [COBISS.SI-ID 129715459]

2023

16. KOTNIK, Urška (author, corresponding author), MAVER, Aleš, PETERLIN, Borut, LOVREČIĆ, Luca. Assessment of pathogenic variation in gynecologic cancer genes in a national cohort. Scientific reports. 2023, vol. 13, iss. 1, str. 1-9, ilustr. ISSN 2045-2322. https://pubmed.ncbi.nlm.nih.gov/37002323/, DOI: 10.1038/s41598-023-32397-8. [COBISS.SI-ID 150620163]
17. PETERLIN, Borut, KOTNIK, Urška. Clinical genetics in gynecologic cancers. In: AYHAN, Ali (ed.), et al. Textbook of gynaecological oncology. Platinum ed. Ankara: Güneş Publishing, cop. 2023. Str. 77-83, ilustr. ISBN 978-975-277-958-7. [COBISS.SI-ID 180029955]
18. KOTNIK, Urška. Identifikacija žensk s povečano ogroženostjo za dedne oblike ginekoloških rakov : doktorska disertacija = Identification of women at increased risk for hereditary gynecologic cancer : doctoral dissertation. Ljubljana: [U. Kotnik], 2023. 1 spletni vir (1 datoteka PDF (XII, 102, [22] str.), ilustr. Repository of the University of Ljubljana – RUL . [COBISS.SI-ID 179580675]
19. KOTNIK, Urška, PETERLIN, Borut, LOVREČIĆ, Luca. Pathogenic BRCA1/2 variation in a large Slovenian non-cancer cohort : a cohort study. In: Abstracts from the 56th European Society of Human Genetics (ESHG) Conference : e-posters : Glasgow, Scotland, United Kingdom June 10-13, 2023. 56th European Society of Human Genetics (ESHG) Conference, Glasgow, Scotland, United Kingdom, June 10-13, 2023. London: Nature Publishing Group, 2024. Suppl. 1, vol. 32, str. 349–795. European journal of human genetics (Online), Vol. 32, suppl. 1. ISSN 1476-5438. https://www.nature.com/articles/s41431-023-01482-x, DOI: 10.1038/s41431-023-01482-x. [COBISS.SI-ID 187344899]
20. KOTNIK, Urška, MAVER, Aleš, PETERLIN, Borut, LOVREČIĆ, Luca. Patogene različice v genih, povezanih z dednimi oblikami ginekoloških rakov v slovenski populaciji. In: BABIĆ BOŽOVIĆ, Ivana (ed.), LOVREČIĆ, Luca (ed.). Novosti na področju redkih bolezni v Sloveniji : 8. simpozij slovenske medicinske genetike : knjiga povzetkov : UKC Ljubljana, 10. november 2023. Ljubljana: Združenje za medicinsko genetiko, Slovensko zdravniško društvo, 2023. Str. 33-34, ilustr. ISBN 978-961-93050-6-5. https://www.szd.si/wp-content/uploads/2023/11/szd-strokovna-podrocja-zdruzenje-za-medicinsko-genetiko-8-simpozij.pdf. [COBISS.SI-ID 186830595]
21. KOVANDA, Anja, KOTNIK, Urška, LONČAR, Maja, HODŽIĆ, Alenka, LOVREČIĆ, Luca, MAVER, Aleš, MILJANOVIĆ, Olivera, PETERLIN, Borut. Value of optical genome mapping for diagnostics of rare diseases. BJMG : Balkan journal of medical genetics. 2023, vol. 26, iss. suppl., str. 65. ISSN 1311-0160. [COBISS.SI-ID 185641219]

2024

22. DOLANC MERC, Maja, KOTNIK, Urška, PETERLIN, Borut, LOVREČIĆ, Luca. Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth. Prenatal diagnosis. 2024, letn. 44, št. 9, str. 1062-1072. ISSN 0197-3851. https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/pd.6616, Repository of the University of Ljubljana – RUL , DiRROS - Digital repository of Slovenian research organizations, DOI: 10.1002/pd.6616. [COBISS.SI-ID 202250499]

2025

23. PAJIČ, Tadej, MAVER, Aleš, HODŽIĆ, Alenka, KOTNIK, Urška, RUDOLF, Gorazd, MILJANOVIĆ, Olivera, ČUTURILO, Goran, ŠKRJANEC PUŠENJAK, Maruša, URDIH, Tereza, BOŠKOVIĆ, Ana, PETERLIN, Borut, SEVER, Matjaž. Challenges and rewards in diagnosing Diamond-Blackfan anaemia : a case series from cooperating regional tertiary care centres. In: AABC2025 : abstract book : 15th Balkan Congress of human genetics and 3rd Alpe Adria meeting of human genetics : October 09-11, 2025, Rikli Balance Hotel, Bled, Slovenia. [S. l.]: Macedonian Academy of Sciences and Arts, 2025. Vol. 28, suppl. , str. 111-112. Balkan journal of medical genetics (Internet), Vol. 28, Suppl., 2025. ISSN 2199-5761. https://www.bledgenetics2025.com/_files/ugd/49b14b_82d429f375d14212bad8570f5d83fde3.pdf. [COBISS.SI-ID 268532739]
24. MAVER, Aleš, JUVAN, Peter, KOTNIK, Urška, LOVREČIĆ, Luca, BERGANT, Gaber, PETERLIN, Borut. Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population. Scientific reports. 2025, vol. 15, article no. 41118, str. 1-11, ilustr. ISSN 2045-2322. DiRROS - Digital repository of Slovenian research organizations, DOI: 10.1038/s41598-025-24991-9. [COBISS.SI-ID 258328323]
25. KOTNIK, Urška, MAVER, Aleš, PETERLIN, Borut, LOVREČIĆ, Luca. Pathogenic variants in cancer genes in the Slovenian population. European journal of human genetics. 2025, vol. 33, iss. suppl. 1, str. 547. ISSN 1476-5438. DOI: 10.1038/s41431-025-01935-5. [COBISS.SI-ID 257028611]
26. KOTNIK, Urška. Prudent use of population frequency evidence. In: AABC2025 : abstract book : 15th Balkan Congress of human genetics and 3rd Alpe Adria meeting of human genetics : October 09-11, 2025, Rikli Balance Hotel, Bled, Slovenia. [S. l.]: Macedonian Academy of Sciences and Arts, 2025. Str. 18. Balkan journal of medical genetics (Internet), Vol. 28, Suppl., 2025. ISSN 2199-5761. https://www.bledgenetics2025.com/_files/ugd/49b14b_82d429f375d14212bad8570f5d83fde3.pdf. [COBISS.SI-ID 271032323]

2026

27. KOVANDA, Anja (author, corresponding author), HODŽIĆ, Alenka, KOTNIK, Urška, VIŠNJAR, Tanja, PODGRAJŠEK, Rebeka, ANDJELIĆ, Aleksander, JAKLIČ, Helena, MAVER, Aleš, LOVREČIĆ, Luca, PETERLIN, Borut (author, corresponding author). Structural variants in male infertility identified by optical genome mapping. In: Bionano Symposium 2026, online,February 23-26, 2026. [S. l.: s.n.]. 2026, 1 spletni vir, graf. prikazi. https://bionanosymposium2026.vfairs.com/en/poster-hall. [COBISS.SI-ID 272153091]
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A source of bibliographic data: shared data base COBISS.SI/COBIB.SI, 17. 8. 2026