Mijovic Marija,Cuturilo Goran,Ruml-Stojanovic Jelena,Brankovic Marija,Miletic A,Bosankic Brankica,Dedovic Maja,Perovic D,Maksimovic N,Damnjanovic Tatjana M (2025) A Novel 4.2 kb deletion of the 3′UTR of RUNX2 Gene Causes Cleidocranial Dysplasia: Further Delineation of the Role of yhe 3′UTR, BALKAN JOURNAL OF MEDICAL GENETICS, vol. 28, br. 2, str. 107-112 (Article) Peng Xiaoxia,...,Cuturilo Goran,...,(broj koautora 49) (2025) Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development, JOURNAL OF CLINICAL INVESTIGATION, vol. 135, br. 22, str. - (Article) Peng Xiaoxia,...,Cuturilo Goran,...,(broj koautora 49) (2025) Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development, JOURNAL OF CLINICAL INVESTIGATION, vol. 135, br. 22, str. - (Article) Kroll-Hermi Ariane,...,Cuturilo Goran,...,(broj koautora 89) (2025) Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability, AMERICAN JOURNAL OF HUMAN GENETICS, vol. 112, br. 12, str. 2943-2960 (Article) Westenberger Ana,...,Cuturilo Goran,...,(broj koautora 40) (2025) Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants, MOVEMENT DISORDERS, vol. , br. , str. - (Article; Early Access) Huremagic Benjamin,...,Drakulic Danijela D,Cuturilo Goran,...,(broj koautora 22) (2025) MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis, EUROPEAN JOURNAL OF HUMAN GENETICS, vol. , br. , str. - (Article; Early Access) Kraft Florian,...,Cuturilo Goran,...,(broj koautora 87) (2024) Brain malformations and seizures by impaired chaperonin function of TRiC, SCIENCE, vol. 386, br. 6721, str. 516-525 (Article) Rakonjac Marijana,Cuturilo Goran,Kovacevic-Grujicic Natasa R,Simeunovic Ivana V,Kostic Jovana N,Stevanovic Milena J,Drakulic Danijela D (2024) Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion, CHILDREN-BASEL, vol. 11, br. 4, str. - (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) Van der Spek Jet,...,Cuturilo Goran,...,(broj koautora 46) (2022) Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome, GENETICS IN MEDICINE, vol. 24, br. 6, str. 1283-1296 (Article) Tylki-Szymanska Anna,...,Cuturilo Goran,Djordjevic Maja S,...,(broj koautora 18) (2022) The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers, ORPHANET JOURNAL OF RARE DISEASES, vol. 17, br. 1, str. - (Article) Borkovic Milan P,Cuturilo Goran,Cerovac Natasa M (2022) Ring chromosome 20: a further contribution to the delineation of epileptic phenotype, VOJNOSANITETSKI PREGLED, vol. 79, br. 2, str. 196-200 (Article) Miletic Aleksandra,Ruml-Stojanovic Jelena,Parezanovic Vojislav M,Rsovac Snezana,Drakulic Danijela D,Soldatovic Ivan A,Mijovic Marija,Bosankic Brankica,Petrovic Hristina,Borlja Nikola,Milivojevic Milena C,Marjanovic Ana,Marjanovic Ana,Cuturilo Goran (2021) Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit, EUROPEAN JOURNAL OF PEDIATRICS, vol. 180, br. 10, str. 3219-3227 (Article) Chawner Samuel JRA,...,Cuturilo Goran,...,Mihaljevic Marina M,...,Pejovic-Milovancevic Milica M,...,(broj koautora 31) (2021) A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants, AMERICAN JOURNAL OF PSYCHIATRY, vol. 178, br. 1, str. 77-86 (Article) Brinkmann Julia,...,Cuturilo Goran,...,(broj koautora 25) (2021) The clinical significance ofA2ML1variants in Noonan syndrome has to be reconsidered, EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 29, br. 3, str. 524-527 (Article) Oliva-Teles Natalia,De Stefano Maria Chiara,Gallagher Louise,Rakic Severin,Jorge Paula,Cuturilo Goran,Markovska-Simoska Silvana,Borg Isabella,Wolstencroft Jeanne,Tumer Zeynep,Harwood Adrian J,Kodra Yllka,Skuse David (2020) Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature, INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, vol. 17, br. 24, str. - (Review) Ivanovski Ivan P,Djuric Olivera S,...,Cuturilo Goran,...,Kuburovic Vladimir,...,(broj koautora 53) (2020) Mowat-Wilson syndrome: growth charts, ORPHANET JOURNAL OF RARE DISEASES, vol. 15, br. 1, str. - (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) Ivancevic Nikola,Cerovac Natasa M,Nikolic Blazo,Cuturilo Goran,Marjanovic Ana,Marjanovic Ana,Novakovic Ivana V (2019) GLUT1 deficiency syndrome: a case report with a novel SLC2A1 mutation, VOJNOSANITETSKI PREGLED, vol. 76, br. 5, str. 543-546 (Article) Joksic Ivana D,Cuturilo Goran,Jurisic Aleksandar I,Djuricic Slavisa M,Peterlin Borut,Mijovic Marija,Karadzov-Orlic Natasa T,Egic Amira,Milovanovic Zagorka M (2019) Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in Two Siblings, BALKAN JOURNAL OF MEDICAL GENETICS, vol. 22, br. 2, str. 83-87 (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) Capri Yline,...,Cuturilo Goran,...,(broj koautora 33) (2019) Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome, AMERICAN JOURNAL OF HUMAN GENETICS, vol. 104, br. 6, str. 1223-1232 (Article) Loges Niki T,...,Cuturilo Goran,...,(broj koautora 27) (2018) Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects, AMERICAN JOURNAL OF HUMAN GENETICS, vol. 103, br. 6, str. 995-1008 (Article) Ivanovski Ivan P,Djuric Olivera S,...,Cuturilo Goran,...,Kuburovic Vladimir,...,(broj koautora 80) (2018) Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care, GENETICS IN MEDICINE, vol. 20, br. 9, str. 965-975 (Article) Hendee Kathryn E,Sorokina Elena A,Muheisen Sanaa S,Reis Linda M,Tyler Rebecca C,Markovic Vujica D,Cuturilo Goran,Link Brian A,Semina Elena V (2018) PITX2 deficiency and associated human disease: insights from the zebrafish model, HUMAN MOLECULAR GENETICS, vol. 27, br. 10, str. 1675-1695 (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) Harms Frederike L,Alawi Malik,Amor David J,Tan Tiong Y,Cuturilo Goran,Lissewski Christina,Brinkmann Julia,Schanze Denny,Kutsche Kerstin,Zenker Martin (2018) The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol. 176, br. 2, str. 470-476 (Article) Cuturilo Goran,Drakulic Danijela D,Jovanovic Ida V,Ilic Slobodan G,Kalanj Jasna,Vulicevic Irena,Raus Misela V,Skoric Dejan,Mijovic Marija,Medjo Biljana P,Rsovac Snezana,Stevanovic Milena J (2017) The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome, PEDIATRIC CARDIOLOGY, vol. 38, br. 8, str. 1680-1685 (Article) Garavelli Livia,...,Cuturilo Goran,...,(broj koautora 58) (2017) Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients, GENETICS IN MEDICINE, vol. 19, br. 6, str. 691-700 (Article) Pannone Luca,...,Cuturilo Goran,...,(broj koautora 29) (2017) Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome, HUMAN MUTATION, vol. 38, br. 4, str. 451-459 (Article) Cuturilo Goran,Drakulic Danijela D,Jovanovic Ida V,Krstic Aleksandar,Djukic Milan M,Skoric Dejan,Mijovic Marija,Stefanovic Igor D,Milivojevic Milena C,Stevanovic Milena J (2016) Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia, INDIAN PEDIATRICS, vol. 53, br. 9, str. 786-789 (Article) Rakonjac Marijana,Cuturilo Goran,Stevanovic Milena J,Jelicic Ljiljana,Subotic Misko Z,Jovanovic Ida V,Drakulic Danijela D (2016) Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion, RESEARCH IN DEVELOPMENTAL DISABILITIES, vol. 55, br. , str. 322-329 (Article) Rakonjac Marijana,Cuturilo Goran,Stevanovic Milena J,Jovanovic Ida V,Jelicic-Dobrijevic Ljiljana,Mijovic Marija,Drakulic Danijela D (2016) Speech and Language Abilities of Children with the Familial Form of 22q11.2 Deletion Syndrome, GENETIKA-BELGRADE, vol. 48, br. 1, str. 57-72 (Article) Cuturilo Goran,Kontic-Vucinic Olivera,Novakovic Ivana V,Ignjatovic Svetlana D,Mijovic Marija,Sulovic Nenad,Vukolic D,Komnenic Milica,Tadic Jasmina,Cetkovic Aleksandar,Belic Aleksandra,Ljubic Aleksandar D (2016) Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire, JOURNAL OF GENETIC COUNSELING, vol. 25, br. 1, str. 189-197 (Article) Cuturilo Goran,Hodge JC,Runke CK,Thorland EC,Al-Owain MA,Ellison JW,Babovic-Vuksanovic D (2016) Phenotype analysis impacts testing strategy in patients with Currarino syndrome, CLINICAL GENETICS, vol. 89, br. 1, str. 109-114 (Article) Damnjanovic Tatjana M,Cuturilo Goran,Maksimovic Nela S,Dimitrijevic Nikola,Mitic Vesna,Jekic Biljana B,Lukovic Ljiljana F,Bunjevacki Vera I,Varljen Tatjana J,Dobricic Valerija S,Jovanovic Ida V,Kostic Vladimir S,Novakovic Ivana V (2015) Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual disabilities, TURKISH JOURNAL OF PEDIATRICS, vol. 57, br. 2, str. 154-160 (Article) Ruml Jelena,Cuturilo Goran,Lukac Marija K,Peters Hartmut (2015) Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation-Expanding the Phenotypic Spectrum, PEDIATRIC DERMATOLOGY, vol. 32, br. 3, str. 421-422 (Article) Skoric Dejan,Dimitrijevic Aleksandar N,Cuturilo Goran,Ivanovski Petar I (2014) Wiskott-Aldrich Syndrome with Macrothrombocytopenia, INDIAN PEDIATRICS, vol. 51, br. 12, str. 1015-1016 (Article) Cuturilo Goran,Drakulic Danijela D,Krstic Aleksandar,Gradinac Marija,Ilisic Tamara M,Parezanovic Vojislav M,Milivojevic Milena C,Stevanovic Milena J,Jovanovic Ida V (2013) The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2, CARDIOLOGY IN THE YOUNG, vol. 23, br. 2, str. 181-188 (Article) Medjo Biljana P,Atanaskovic-Markovic Marina,Nikolic Dimitrije M,Cuturilo Goran,Djukic Slobodanka V (2012) Inhaled Nitric Oxide Therapy for Acute Respiratory Distress Syndrome in Children, INDIAN PEDIATRICS, vol. 49, br. 7, str. 573-576 (Article) Mitic Vesna,Cuturilo Goran,Novakovic Ivana V,Dimitrijevic Nikola,Damnjanovic Tatjana M,Dimitrijevic Aleksandar N,Dobricic Valerija S,Kostic Vladimir S,Radlovic Nedeljko P (2011) Epilepsy in a Child with Wolf-Hirschhorn Syndrome, SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO, vol. 139, br. 11-12, str. 795-799 (Article) Cuturilo Goran,Menten Bjorn,Krstic Aleksandar,Drakulic Danijela D,Jovanovic Ida V,Parezanovic Vojislav M,Stevanovic Milena J (2011) 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome, EUROPEAN JOURNAL OF PEDIATRICS, vol. 170, br. 11, str. 1465-1470 (Article) Cuturilo Goran,Stefanovic Igor D,Jovanovic Ida V,Miletic-Grkovic Slobodanka,Novakovic Ivana V (2009) Mowat-Wilson Syndrome - A Case Report, SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO, vol. 137, br. 7-8, str. 426-429 (Article) Atanaskovic-Markovic Marina,Gavrovic-Jankulovic Marija Dj,Cirkovic-Velickovic Tanja D,Vuckovic Olga,Ivanovski Petar I,Nestorovic Branimir,Cuturilo Goran,Simic Dusica M (2008) Intraoperative anaphylactic shock in a child with no history of type I hypersensitivity, IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY, vol. 7, br. 2, str. 97-99 (Article) Cuturilo Goran,Drakulic Danijela D,Stevanovic Milena J,Jovanovic Ida V,Djukic Milan M,Miletic-Grkovic Slobodanka,Atanaskovic-Markovic Marina (2008) A rare association of interrupted aortic arch type C and microdeletion 22q11.2, EUROPEAN JOURNAL OF PEDIATRICS, vol. 167, br. 10, str. 1195-1198 (Article) Cuturilo Goran,Jovanovic Ida V,Vukomanovic Goran V,Djukic Milan M,Stefanovic Igor D,Atanaskovic-Markovic Marina (2008) Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: Further delineation of presumed new dysmorphic syndrome, BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, vol. 82, br. 3, str. 166-168 (Article)