@ARTICLE{
author={Volk Marija,Maver Ales,Vidmar Martina Jarc,Trost Nusa,Visnjar Tanja,Fakin Ana,Kovac Lea,Habjan Maja Sustar,Malinar Lucija,Petrovic Pajic Sanja MI,Jerman Urska Dragin,Romih Rok,Hawlina Marko,Peterlin Borut},
year={2026},
title={Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy},
journal={CLINICAL GENETICS},
volume={},
number={},
pages={-},
document_type={Article; Early Access},
} 

@ARTICLE{
author={Turk Aleksander,Maver Ales,Juvan Peter,Drulovic Jelena S,Mesaros Sarlota T,Novakovic Ivana V,Cizmarevic Nada S,Ristic Smiljana,Matic Ivana S,Peterlin Borut},
year={2025},
title={Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={33},
number={},
pages={1046-1046},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Kovanda Anja,Susmelj Lara,Lukezic Tadeja,Maver Ales,Racki Valentino,Vuletic Vladimira,Svetel Marina V,Novakovic Ivana V,Peterlin Borut},
year={2025},
title={Biallelic RFC1 expansions as a rare cause of familial and early onset Parkinson's disease in the Slavic population},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={33},
number={},
pages={797-798},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Podgrajsek Rebeka,Hodzic Alenka,Maver Ales,Stimpfel Martin,Andjelic Aleksander,Miljanovic Olivera,Ristanovic Momcilo,Novakovic Ivana V,Plaseska-Karanfilska Dijana,Noveski Predrag,Ostojic Sasa,Buretic-Tomljanovic Alena,Peterlin Borut},
year={2025},
title={Clinical application of whole exome sequencing in the diagnosis of men with severely impaired spermatogenesis},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={33},
number={},
pages={570-570},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Volk Marija,Trost Nusa,Visnjar Tanja,Maver Ales,Vidmar Martina Jarc,Fakin Ana,Petrovic-Pajic Sanja,Hawlina Marko,Peterlin Borut},
year={2025},
title={Discovery of PHB1 as a novel candidate gene in dominant optic atrophy},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={33},
number={},
pages={93-93},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Podgrajsek Rebeka,Hodzic Alenka,Maver Ales,Stimpfel Martin,Andjelic Aleksander,Miljanovic Olivera,Ristanovic Momcilo,Novakovic Ivana V,Plaseska-Karanfilska Dijana,Noveski Predrag,Ostojic Sasa,Buretic-Tomljanovic Alena,Peterlin Borut},
year={2025},
title={The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study},
journal={REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY},
volume={23},
number={1},
pages={-},
document_type={Review},
} 

@ARTICLE{
author={Podgrajsek Rebeka,Hodzic Alenka,Maver Ales,Stimpfel Martin,Andjelic Aleksander,Miljanovic Olivera,Ristanovic Momcilo,Novakovic Ivana V,Plaseska-Karanfilska Dijana,Noveski Predrag,Ostojic Sasa,Grskovic Antun,Buretic-Tomljanovic Alena,Peterlin Borut},
year={2025},
title={Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility},
journal={WORLD JOURNAL OF MENS HEALTH},
volume={43},
number={4},
pages={908-917},
document_type={Article},
} 

@ARTICLE{
author={Kovanda Anja,Susmelj Lara,Jaklic Helena,Lukezic Tadeja,Maver Ales,Petrovic Igor N,Dragasevic-Miskovic Natasa T,Svetel Marina V,Racki Valentino,Vuletic Vladimira,Novakovic Ivana V,Peterlin Borut},
year={2025},
title={Biallelic RFC1 Expansions Are a Rare Cause of Early-Onset and Familial Parkinson's Disease},
journal={CLINICAL GENETICS},
volume={},
number={},
pages={-},
document_type={Editorial Material; Early Access},
} 

@ARTICLE{
author={Turk Aleksander,Maver Ales,Juvan Peter,Drulovic Jelena S,Mesaros Sarlota T,Novakovic Ivana V,Starcevic-Cizmarevic Nada,Ristic Smiljana,Stankovic-Matic Ivana,Peterlin Borut},
year={2025},
title={Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis},
journal={SCIENTIFIC REPORTS},
volume={15},
number={1},
pages={-},
document_type={Article},
} 

@ARTICLE{
author={Podgrajsek Rebeka,Hodzic Alenka,Maver Ales,Stimpfel Martin,Andjelic Aleksander,Miljanovic Olivera,Ristanovic Momcilo,Novakovic Ivana V,Plaseska-Karanfilska Dijana,Noveski Predrag,Ostojic Sasa,Grskovic Antun,Buretic-Tomljanovic Alena,Peterlin Borut},
year={2025},
title={Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility},
journal={WORLD JOURNAL OF MENS HEALTH},
volume={},
number={},
pages={-},
document_type={Article; Early Access},
} 

@ARTICLE{
author={Vodnjov Nina,Toplisek Janez,Maver Ales,Cuturilo Goran,Jaklic Helena,Teran Natasa,Visnjar Tanja,Skrjanec-Pusenjak Marusa,Hodzic Alenka,Miljanovic Olivera,Peterlin Borut,Writzl Karin},
year={2024},
title={A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans - a cohort study},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={32},
number={},
pages={1390-1390},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Vodnjov Nina,Toplisek Janez,Maver Ales,Cuturilo Goran,Jaklic Helena,Teran Natasa,Visnjar Tanja,Pusenjak Marusa Skrjanec,Hodzic Alenka,Miljanovic Olivera,Peterlin Borut,Writzl Karin},
year={2024},
title={A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans - a cohort study},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={32},
number={},
pages={1390-1390},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Ilic Nikola A,Krasic Stasa D,Maric Nina,Gasic Vladimir V,Krstic Jovana,Cvetkovic Dimitrije,Miljkovic Vesna,Zec Boris,Maver Ales,Vukomanovic Vladislav A,Sarajlija Adrijan},
year={2024},
title={Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study},
journal={GENES},
volume={15},
number={11},
pages={-},
document_type={Article},
} 

@ARTICLE{
author={Podgrajsek Rebeka,Hodzic Alenka,Maver Ales,Stimpfel Martin,Andjelic Aleksander,Miljanovic Olivera,Ristanovic Momcilo,Novakovic Ivana V,Plaseska-Karanfilska Dijana,Noveski Predrag,Ostojic Sasa,Grskovic Antun,Buretic-Tomljanovic Alena,Peterlin Borut},
year={2024},
title={Genetic testing for monogenic forms of male infertility contributes to the clinical diagnosis of men with idiopathic severe male infertility},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={32},
number={},
pages={356-357},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Paripovic Aleksandra,Maver Ales,Stajic Natasa,Putnik Jovana,Ostojic Slavica B,Alimpic Biljana,Ilic Nina,Sarajlija Adrijan},
year={2023},
title={Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21},
journal={BALKAN JOURNAL OF MEDICAL GENETICS},
volume={26},
number={2},
pages={59-64},
document_type={Article},
} 

@ARTICLE{
author={Vodnjov Nina,Toplisek Janez,Maver Ales,Cuturilo Goran,Jaklic Helena,Teran Natasa,Visnjar Tanja,Skrjanec Pusenjak Marusa,Hodzic Alenka,Miljanovic Olivera,Peterlin Borut,Writzl Karin,Mahdieh Nejat},
year={2023},
title={A novel splice-site <i>FHOD3</i> founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study},
journal={PLOS ONE},
volume={18},
number={12},
pages={-},
document_type={Article},
} 

@ARTICLE{
author={Petrovic Pajic Sanja MI,Habjan Maja Sustar,Brecelj Jelka,Fakin Ana,Volk Marija,Maver Ales,Jezernik Gregor,Peterlin Borut,Glavac Damjan,Hawlina Marko,Jarc-Vidmar Martina},
year={2023},
title={Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant},
journal={JOURNAL OF NEURO-OPHTHALMOLOGY},
volume={43},
number={3},
pages={341-347},
document_type={Article},
} 

@ARTICLE{
author={Parezanovic M,Ilic Nina,Ostojic Slavica B,Stevanovic Galina B,Jecmenica Jovana R,Maver Ales,Sarajlija Adrijan},
year={2023},
title={Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency},
journal={BALKAN JOURNAL OF MEDICAL GENETICS},
volume={26},
number={1},
pages={63-67},
document_type={Article},
} 

@ARTICLE{
author={Brankovic Marija,Stefanova Elka D,Mandic Gorana B,Marjanovic Ana,Dobricic Valerija S,Maver Ales,Bergant Gaber,Stevic Zorica D,Jankovic Milena Z,Novakovic Ivana V,Peterlin Borut,Kostic Vladimir K},
year={2022},
title={Analysis of "Clinical Exome" Panel in Serbian Patients with Cognitive Disorders},
journal={GENETIKA-BELGRADE},
volume={54},
number={3},
pages={1351-1364},
document_type={Article},
} 

@ARTICLE{
author={Sarajlija Adrijan,Armengol L,Maver Ales,Kitic Ivana,Prokic Dragan,Cehic Maja,Djuricic MS,Peterlin Borut},
year={2022},
title={A Novel Variant in the LIPA Gene Associated with Distinct Phenotype},
journal={BALKAN JOURNAL OF MEDICAL GENETICS},
volume={25},
number={1},
pages={93-99},
document_type={Article},
} 

@ARTICLE{
author={Petrovic Pajic Sanja MI,Jarc-Vidmar Martina,Fakin Ana,Sustar-Habjan Maja,Brecelj Jelka,Volk Marija,Maver Ales,Peterlin Borut,Hawlina Marko},
year={2022},
title={Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G > A pathogenic variant-case series},
journal={FRONTIERS IN NEUROLOGY},
volume={13},
number={},
pages={-},
document_type={Article},
} 

@ARTICLE{
author={Petrovic Pajic Sanja MI,Lapajne Luka,Vratanar Bor,Fakin Ana,Jarc-Vidmar Martina,Sustar-Habjan Maja,Volk Marija,Maver Ales,Peterlin Borut,Hawlina Marko},
year={2022},
title={The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy},
journal={JOURNAL OF CLINICAL MEDICINE},
volume={11},
number={20},
pages={-},
document_type={Article},
} 

@ARTICLE{
author={Brankovic Marija,Dragasevic Natasa T,Dobricic Valerija S,Maver Ales,Bergant Gaber,Petrovic Igor N,Peric Stojan Z,Marjanovic Ana,Jankovic Milena Z,Jancic Jasna B,Novakovic Ivana V,Peterlin Borut,Svetel Marina V,Kostic Vladimir K},
year={2022},
title={Clinical Exome Sequencing in Serbian Patients with Movement Disorders - Single Centre Experience},
journal={GENETIKA-BELGRADE},
volume={54},
number={1},
pages={395-409},
document_type={Article},
} 

@ARTICLE{
author={Petrovic Pajic Sanja MI,Lapajne Luka,Fakin Ana,Jarc-Vidmar Martina,Glavac Damjan,Volk Marija,Maver Ales,Vratanar Bor,Stare Janez,Peterlin Borut,Hawlina Marko},
year={2022},
title={Relative preservation of central retinal layers in LHON in comparison to other optic neuropathies},
journal={INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE},
volume={63},
number={7},
pages={-},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Maver Ales,Kovanda Anja,Bergant Gaber,Teran Natasa,Vrecar Irena,Brankovic Marija,Jankovic Milena Z,Svetel Marina V,Kostic Vladimir S,Novakovic Ivana V,Racki Valentino,Vuletic Vladimira,Peterlin Borut},
year={2022},
title={Diagnostic yield of whole exome sequencing in early-onset and familial Parkinson's disease in the Balkans},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={30},
number={SUPPL 1},
pages={292-292},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Hodzic Alenka,Maver Ales,Plaseska-Karanfilska Dijana,Ristanovic Momcilo,Noveski Predrag,Zorn Branko,Terzic Marija,Kunej Tanja,Peterlin Borut},
year={2021},
title={De novo mutations in idiopathic male infertility-A pilot study},
journal={ANDROLOGY},
volume={9},
number={1},
pages={212-220},
document_type={Article},
} 

@ARTICLE{
author={Mijovic Marija,Ruml-Stojanovic Jelena,Miletic Aleksandra,Bosankic Brankica,Janeski Hristina,Peterlin Borut,Maver Ales,Cuturilo Goran},
year={2020},
title={Skeletal dysplasia in the era of genomic testing: first experience of a single genetic outpatient clinic from Serbia},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={28},
number={SUPPL 1},
pages={831-831},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Petrovic Pajic Sanja MI,Jarc-Vidmar Martina,Fakin Ana,Sustar Maja,Brecelj Jelka,Lapajne Luka,Volk Marija,Maver Ales,Peterlin Borut,Hawlina Marko},
year={2020},
title={Phenotype and genotype spectrum of patients with a bilateral optic neuropathy in population of Slovenia},
journal={INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE},
volume={61},
number={7},
pages={-},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Ruml-Stojanovic Jelena,Miletic Aleksandra,Peterlin Borut,Maver Ales,Mijovic Marija,Borlja Nikola,Dimitrijevic Brankica,Soldatovic Ivan A,Cuturilo Goran},
year={2020},
title={Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability},
journal={JOURNAL OF CHILD NEUROLOGY},
volume={35},
number={2},
pages={116-131},
document_type={Article},
} 

@ARTICLE{
author={Maver Ales,Cuturilo Goran,Stojanovic Ruml J,Peterlin Borut},
year={2019},
title={Clinical Next Generation Sequencing Reveals An H3f3a Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation},
journal={BALKAN JOURNAL OF MEDICAL GENETICS},
volume={22},
number={2},
pages={65-68},
document_type={Article},
} 

@ARTICLE{
author={Maver Ales,Cuturilo Goran,Kovanda Anja,Miletic Aleksandra,Peterlin Borut},
year={2019},
title={Rare missense TUBGCP5 gene variant in a patient with primary microcephaly},
journal={EUROPEAN JOURNAL OF MEDICAL GENETICS},
volume={62},
number={12},
pages={-},
document_type={Article},
} 

@ARTICLE{
author={Ruml-Stojanovic Jelena,Mijovic Marija,Miletic Aleksandra,Dimitrijevic Brankica,Peterlin Borut,Maver Ales,Cuturilo Goran},
year={2019},
title={Novel mosaic CREBBP mutation in a patient with overlapping clinical features of Rubinstein-Taybi syndrome and Floating-Harbor syndrome},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={27},
number={},
pages={945-945},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Mijovic Marija,Miletic Aleksandra,Dimitrijevic Brankica,Peterlin Borut,Maver Ales,Ruml-Stojanovic Jelena,Zivanovic M,Cuturilo Goran},
year={2019},
title={Exome sequencing in disclosing causes of unexpected death in child - single genetic center experience},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={27},
number={},
pages={164-164},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Hodzic Alenka,Maver Ales,Zorn Branko,Plaseska-Karanfilska Dijana,Ristanovic Momcilo,Novakovic Ivana V,Peterlin Borut},
year={2019},
title={De novo mutations in idiopathic male infertility},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={27},
number={},
pages={16-17},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Peterlin Borut,Vidmar Lovro,Drulovic Jelena S,Sepcic Juraj,Novakovic Ivana V,Ristic Smiljana,Sega-Jazbec Sasa,Maver Ales},
year={2019},
title={Increased burden of ultra-rare genetic variants in the inflammasome regulatory genes in patients with multiple sclerosis},
journal={EUROPEAN JOURNAL OF NEUROLOGY},
volume={26},
number={},
pages={885-885},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Mijovic Marija,Miletic Aleksandra,Ruml-Stojanovic Jelena,Peterlin Borut,Maver Ales,Borlja Nikola,Dimitrijevic Brankica,Lukic M,Cuturilo Goran},
year={2018},
title={A novel CTNNB1 mutation in a patient with teratoma and multiple malformations - expansion of the phenotypic spectrum and possible new gene for Currarino phenotype},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={26},
number={},
pages={465-465},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Peterlin AM,Maver Ales,Hodzic A,Sega Sasa,Drulovic Jelena S,Novakovic Ivana V,Pekmezovic Tatjana D,Ristic S,Kapovic Miljenko,Peterlin Borut},
year={2018},
title={The burden of rare genetic variants in genes involved in tumor necrosis factor (TNF) signalling pathway in multiple sclerosis (MS)},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={26},
number={},
pages={400-400},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Petrovic Pajic Sanja MI,Jarc-Vidmar Martina,Fakin Ana,Sustar Maja,Brecelj Jelka,Lapajne Luka,Glavac Damjan,Tajnik Mojca,Peterlin Borut,Volk Marija,Maver Ales,Hawlina Marko},
year={2018},
title={Genotype and phenotype characteristics of Leber hereditary optic neuropathy (LHON) patients in Slovenia},
journal={INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE},
volume={59},
number={9},
pages={-},
document_type={Meeting Abstract},
} 

@ARTICLE{
author={Tumiene B,Maver Ales,Writzl Karin,Hodzic A,Cuturilo Goran,Kuzmanic-Samija Radenka,Culic V,Peterlin Borut},
year={2018},
title={Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice},
journal={CLINICAL GENETICS},
volume={93},
number={5},
pages={1057-1062},
document_type={Article},
} 

@ARTICLE{
author={Bergant Gaber,Maver Ales,Lovrecic Luca,Cuturilo Goran,Hodzic Alenka,Peterlin Borut},
year={2018},
title={Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases},
journal={GENETICS IN MEDICINE},
volume={20},
number={3},
pages={303-312},
document_type={Article},
} 

@ARTICLE{
author={Maver Ales,...,Drulovic Jelena S,Pekmezovic Tatjana D,Novakovic Ivana V,...,(broj koautora 19)},
year={2017},
title={Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis},
journal={SCIENTIFIC REPORTS},
volume={7},
number={},
pages={-},
document_type={Article},
} 

@ARTICLE{
author={Hodzic Alenka,Ristanovic Momcilo,Zorn Branko,Tulic Cane Dz,Maver Ales,Novakovic Ivana V,Plaseska-Karanfilska Dijana,Peterlin Borut},
year={2017},
title={Genetic variation in leptin and leptin receptor genes as a risk factor for idiopathic male infertility},
journal={ANDROLOGY},
volume={5},
number={1},
pages={70-74},
document_type={Article},
} 

@ARTICLE{
author={Hodzic Alenka,Ristanovic Momcilo,Zorn Branko,Tulic Cane Dz,Maver Ales,Novakovic Ivana V,Peterlin Borut},
year={2013},
title={Genetic Variation in Circadian Rhythm Genes CLOCK and ARNTL as Risk Factor for Male Infertility},
journal={PLOS ONE},
volume={8},
number={3},
pages={-},
document_type={Article},
} 

@ARTICLE{
author={Lavtar Polona,Rudolf Gorazd,Maver Ales,Lovrecic Luca,Ristic Smiljana,Starcevic-Cizmarevic Nada,Kapovic Miljenko,Sepcic Juraj,Stankovic Aleksandra D,Zivkovic Maja D,Dincic Evica R,Raicevic Ranko,Jazbec Sega S,Klemenc-Ketis Z,Peterlin-Potisk K,Peterlin Borut},
year={2012},
title={Circadian rhythm genes and multiple sclerosis (MS)},
journal={EUROPEAN JOURNAL OF NEUROLOGY},
volume={19},
number={},
pages={346-346},
document_type={Meeting Abstract},
}