Maver Ales,...,Jankovic Milena,...,Novakovic Ivana V,...,(broj koautora 32) (2026) Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases, EUROPEAN JOURNAL OF HUMAN GENETICS, vol. , br. , str. - (Article; Early Access) 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 (2026) Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy, CLINICAL GENETICS, vol. , br. , str. - (Article; Early Access) 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 (2025) The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study, REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY, vol. 23, br. 1, str. - (Review) 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 (2025) Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility, WORLD JOURNAL OF MENS HEALTH, vol. 43, br. 4, str. 908-917 (Article) 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 (2025) Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis, SCIENTIFIC REPORTS, vol. 15, br. 1, str. - (Article) 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 (2025) Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility, WORLD JOURNAL OF MENS HEALTH, vol. , br. , str. - (Article; Early Access) 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 (2024) Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study, GENES, vol. 15, br. 11, str. - (Article) Paripovic Aleksandra,Maver Ales,Stajic Natasa,Putnik Jovana,Ostojic Slavica B,Alimpic Biljana,Ilic Nina,Sarajlija Adrijan (2023) Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21, BALKAN JOURNAL OF MEDICAL GENETICS, vol. 26, br. 2, str. 59-64 (Article) 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 (2023) A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study, PLOS ONE, vol. 18, br. 12, str. - (Article) 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 (2023) Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant, JOURNAL OF NEURO-OPHTHALMOLOGY, vol. 43, br. 3, str. 341-347 (Article) Parezanovic M,Ilic Nina,Ostojic Slavica B,Stevanovic Galina B,Jecmenica Jovana R,Maver Ales,Sarajlija Adrijan (2023) Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency, BALKAN JOURNAL OF MEDICAL GENETICS, vol. 26, br. 1, str. 63-67 (Article) 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 (2022) Analysis of "Clinical Exome" Panel in Serbian Patients with Cognitive Disorders, GENETIKA-BELGRADE, vol. 54, br. 3, str. 1351-1364 (Article) Sarajlija Adrijan,Armengol L,Maver Ales,Kitic Ivana,Prokic Dragan,Cehic Maja,Djuricic MS,Peterlin Borut (2022) A Novel Variant in the LIPA Gene Associated with Distinct Phenotype, BALKAN JOURNAL OF MEDICAL GENETICS, vol. 25, br. 1, str. 93-99 (Article) Petrovic Pajic Sanja MI,Jarc-Vidmar Martina,Fakin Ana,Sustar-Habjan Maja,Brecelj Jelka,Volk Marija,Maver Ales,Peterlin Borut,Hawlina Marko (2022) Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G > A pathogenic variant-case series, FRONTIERS IN NEUROLOGY, vol. 13, br. , str. - (Article) Petrovic Pajic Sanja MI,Lapajne Luka,Vratanar Bor,Fakin Ana,Jarc-Vidmar Martina,Sustar-Habjan Maja,Volk Marija,Maver Ales,Peterlin Borut,Hawlina Marko (2022) The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy, JOURNAL OF CLINICAL MEDICINE, vol. 11, br. 20, str. - (Article) 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 (2022) Clinical Exome Sequencing in Serbian Patients with Movement Disorders - Single Centre Experience, GENETIKA-BELGRADE, vol. 54, br. 1, str. 395-409 (Article) Hodzic Alenka,Maver Ales,Plaseska-Karanfilska Dijana,Ristanovic Momcilo,Noveski Predrag,Zorn Branko,Terzic Marija,Kunej Tanja,Peterlin Borut (2021) De novo mutations in idiopathic male infertility-A pilot study, ANDROLOGY, vol. 9, br. 1, str. 212-220 (Article) Ruml-Stojanovic Jelena,Miletic Aleksandra,Peterlin Borut,Maver Ales,Mijovic Marija,Borlja Nikola,Dimitrijevic Brankica,Soldatovic Ivan A,Cuturilo Goran (2020) Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability, JOURNAL OF CHILD NEUROLOGY, vol. 35, br. 2, str. 116-131 (Article) Maver Ales,Cuturilo Goran,Stojanovic Ruml J,Peterlin Borut (2019) 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, BALKAN JOURNAL OF MEDICAL GENETICS, vol. 22, br. 2, str. 65-68 (Article) Maver Ales,Cuturilo Goran,Kovanda Anja,Miletic Aleksandra,Peterlin Borut (2019) Rare missense TUBGCP5 gene variant in a patient with primary microcephaly, EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 62, br. 12, str. - (Article) Tumiene B,Maver Ales,Writzl Karin,Hodzic A,Cuturilo Goran,Kuzmanic-Samija Radenka,Culic V,Peterlin Borut (2018) Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice, CLINICAL GENETICS, vol. 93, br. 5, str. 1057-1062 (Article) Bergant Gaber,Maver Ales,Lovrecic Luca,Cuturilo Goran,Hodzic Alenka,Peterlin Borut (2018) Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases, GENETICS IN MEDICINE, vol. 20, br. 3, str. 303-312 (Article) Maver Ales,...,Drulovic Jelena S,Pekmezovic Tatjana D,Novakovic Ivana V,...,(broj koautora 19) (2017) Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis, SCIENTIFIC REPORTS, vol. 7, br. , str. - (Article) Hodzic Alenka,Ristanovic Momcilo,Zorn Branko,Tulic Cane Dz,Maver Ales,Novakovic Ivana V,Plaseska-Karanfilska Dijana,Peterlin Borut (2017) Genetic variation in leptin and leptin receptor genes as a risk factor for idiopathic male infertility, ANDROLOGY, vol. 5, br. 1, str. 70-74 (Article) Hodzic Alenka,Ristanovic Momcilo,Zorn Branko,Tulic Cane Dz,Maver Ales,Novakovic Ivana V,Peterlin Borut (2013) Genetic Variation in Circadian Rhythm Genes CLOCK and ARNTL as Risk Factor for Male Infertility, PLOS ONE, vol. 8, br. 3, str. - (Article)