@ARTICLE{
author={Mijovic Marija,Cuturilo Goran,Ruml-Stojanovic Jelena,Brankovic Marija,Miletic A,Bosankic Brankica,Dedovic Maja,Perovic D,Maksimovic N,Damnjanovic Tatjana M},
year={2025},
title={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},
journal={BALKAN JOURNAL OF MEDICAL GENETICS},
volume={28},
number={2},
pages={107-112},
document_type={Article},
} 

@ARTICLE{
author={Peng Xiaoxia,...,Cuturilo Goran,...,(broj koautora 49)},
year={2025},
title={Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development},
journal={JOURNAL OF CLINICAL INVESTIGATION},
volume={135},
number={22},
pages={-},
document_type={Article},
} 

@ARTICLE{
author={Peng Xiaoxia,...,Cuturilo Goran,...,(broj koautora 49)},
year={2025},
title={Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development},
journal={JOURNAL OF CLINICAL INVESTIGATION},
volume={135},
number={22},
pages={-},
document_type={Article},
} 

@ARTICLE{
author={Kroll-Hermi Ariane,...,Cuturilo Goran,...,(broj koautora 89)},
year={2025},
title={Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability},
journal={AMERICAN JOURNAL OF HUMAN GENETICS},
volume={112},
number={12},
pages={2943-2960},
document_type={Article},
} 

@ARTICLE{
author={Westenberger Ana,...,Cuturilo Goran,...,(broj koautora 40)},
year={2025},
title={Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants},
journal={MOVEMENT DISORDERS},
volume={},
number={},
pages={-},
document_type={Article; Early Access},
} 

@ARTICLE{
author={Huremagic Benjamin,...,Drakulic Danijela D,Cuturilo Goran,...,(broj koautora 22)},
year={2025},
title={MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={},
number={},
pages={-},
document_type={Article; Early Access},
} 

@ARTICLE{
author={Kraft Florian,...,Cuturilo Goran,...,(broj koautora 87)},
year={2024},
title={Brain malformations and seizures by impaired chaperonin function of TRiC},
journal={SCIENCE},
volume={386},
number={6721},
pages={516-525},
document_type={Article},
} 

@ARTICLE{
author={Rakonjac Marijana,Cuturilo Goran,Kovacevic-Grujicic Natasa R,Simeunovic Ivana V,Kostic Jovana N,Stevanovic Milena J,Drakulic Danijela D},
year={2024},
title={Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion},
journal={CHILDREN-BASEL},
volume={11},
number={4},
pages={-},
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={Van der Spek Jet,...,Cuturilo Goran,...,(broj koautora 46)},
year={2022},
title={Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome},
journal={GENETICS IN MEDICINE},
volume={24},
number={6},
pages={1283-1296},
document_type={Article},
} 

@ARTICLE{
author={Tylki-Szymanska Anna,...,Cuturilo Goran,Djordjevic Maja S,...,(broj koautora 18)},
year={2022},
title={The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers},
journal={ORPHANET JOURNAL OF RARE DISEASES},
volume={17},
number={1},
pages={-},
document_type={Article},
} 

@ARTICLE{
author={Borkovic Milan P,Cuturilo Goran,Cerovac Natasa M},
year={2022},
title={Ring chromosome 20: a further contribution to the delineation of epileptic phenotype},
journal={VOJNOSANITETSKI PREGLED},
volume={79},
number={2},
pages={196-200},
document_type={Article},
} 

@ARTICLE{
author={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},
year={2021},
title={Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit},
journal={EUROPEAN JOURNAL OF PEDIATRICS},
volume={180},
number={10},
pages={3219-3227},
document_type={Article},
} 

@ARTICLE{
author={Chawner Samuel JRA,...,Cuturilo Goran,...,Mihaljevic Marina M,...,Pejovic-Milovancevic Milica M,...,(broj koautora 31)},
year={2021},
title={A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants},
journal={AMERICAN JOURNAL OF PSYCHIATRY},
volume={178},
number={1},
pages={77-86},
document_type={Article},
} 

@ARTICLE{
author={Brinkmann Julia,...,Cuturilo Goran,...,(broj koautora 25)},
year={2021},
title={The clinical significance ofA2ML1variants in Noonan syndrome has to be reconsidered},
journal={EUROPEAN JOURNAL OF HUMAN GENETICS},
volume={29},
number={3},
pages={524-527},
document_type={Article},
} 

@ARTICLE{
author={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},
year={2020},
title={Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature},
journal={INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH},
volume={17},
number={24},
pages={-},
document_type={Review},
} 

@ARTICLE{
author={Ivanovski Ivan P,Djuric Olivera S,...,Cuturilo Goran,...,Kuburovic Vladimir,...,(broj koautora 53)},
year={2020},
title={Mowat-Wilson syndrome: growth charts},
journal={ORPHANET JOURNAL OF RARE DISEASES},
volume={15},
number={1},
pages={-},
document_type={Article},
} 

@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={Ivancevic Nikola,Cerovac Natasa M,Nikolic Blazo,Cuturilo Goran,Marjanovic Ana,Marjanovic Ana,Novakovic Ivana V},
year={2019},
title={GLUT1 deficiency syndrome: a case report with a novel SLC2A1 mutation},
journal={VOJNOSANITETSKI PREGLED},
volume={76},
number={5},
pages={543-546},
document_type={Article},
} 

@ARTICLE{
author={Joksic Ivana D,Cuturilo Goran,Jurisic Aleksandar I,Djuricic Slavisa M,Peterlin Borut,Mijovic Marija,Karadzov-Orlic Natasa T,Egic Amira,Milovanovic Zagorka M},
year={2019},
title={Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in Two Siblings},
journal={BALKAN JOURNAL OF MEDICAL GENETICS},
volume={22},
number={2},
pages={83-87},
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={Capri Yline,...,Cuturilo Goran,...,(broj koautora 33)},
year={2019},
title={Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome},
journal={AMERICAN JOURNAL OF HUMAN GENETICS},
volume={104},
number={6},
pages={1223-1232},
document_type={Article},
} 

@ARTICLE{
author={Loges Niki T,...,Cuturilo Goran,...,(broj koautora 27)},
year={2018},
title={Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects},
journal={AMERICAN JOURNAL OF HUMAN GENETICS},
volume={103},
number={6},
pages={995-1008},
document_type={Article},
} 

@ARTICLE{
author={Ivanovski Ivan P,Djuric Olivera S,...,Cuturilo Goran,...,Kuburovic Vladimir,...,(broj koautora 80)},
year={2018},
title={Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care},
journal={GENETICS IN MEDICINE},
volume={20},
number={9},
pages={965-975},
document_type={Article},
} 

@ARTICLE{
author={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},
year={2018},
title={PITX2 deficiency and associated human disease: insights from the zebrafish model},
journal={HUMAN MOLECULAR GENETICS},
volume={27},
number={10},
pages={1675-1695},
document_type={Article},
} 

@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={Harms Frederike L,Alawi Malik,Amor David J,Tan Tiong Y,Cuturilo Goran,Lissewski Christina,Brinkmann Julia,Schanze Denny,Kutsche Kerstin,Zenker Martin},
year={2018},
title={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},
journal={AMERICAN JOURNAL OF MEDICAL GENETICS PART A},
volume={176},
number={2},
pages={470-476},
document_type={Article},
} 

@ARTICLE{
author={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},
year={2017},
title={The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome},
journal={PEDIATRIC CARDIOLOGY},
volume={38},
number={8},
pages={1680-1685},
document_type={Article},
} 

@ARTICLE{
author={Garavelli Livia,...,Cuturilo Goran,...,(broj koautora 58)},
year={2017},
title={Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients},
journal={GENETICS IN MEDICINE},
volume={19},
number={6},
pages={691-700},
document_type={Article},
} 

@ARTICLE{
author={Pannone Luca,...,Cuturilo Goran,...,(broj koautora 29)},
year={2017},
title={Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome},
journal={HUMAN MUTATION},
volume={38},
number={4},
pages={451-459},
document_type={Article},
} 

@ARTICLE{
author={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},
year={2016},
title={Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia},
journal={INDIAN PEDIATRICS},
volume={53},
number={9},
pages={786-789},
document_type={Article},
} 

@ARTICLE{
author={Rakonjac Marijana,Cuturilo Goran,Stevanovic Milena J,Jelicic Ljiljana,Subotic Misko Z,Jovanovic Ida V,Drakulic Danijela D},
year={2016},
title={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},
journal={RESEARCH IN DEVELOPMENTAL DISABILITIES},
volume={55},
number={},
pages={322-329},
document_type={Article},
} 

@ARTICLE{
author={Rakonjac Marijana,Cuturilo Goran,Stevanovic Milena J,Jovanovic Ida V,Jelicic-Dobrijevic Ljiljana,Mijovic Marija,Drakulic Danijela D},
year={2016},
title={Speech and Language Abilities of Children with the Familial Form of 22q11.2 Deletion Syndrome},
journal={GENETIKA-BELGRADE},
volume={48},
number={1},
pages={57-72},
document_type={Article},
} 

@ARTICLE{
author={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},
year={2016},
title={Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire},
journal={JOURNAL OF GENETIC COUNSELING},
volume={25},
number={1},
pages={189-197},
document_type={Article},
} 

@ARTICLE{
author={Cuturilo Goran,Hodge JC,Runke CK,Thorland EC,Al-Owain MA,Ellison JW,Babovic-Vuksanovic D},
year={2016},
title={Phenotype analysis impacts testing strategy in patients with Currarino syndrome},
journal={CLINICAL GENETICS},
volume={89},
number={1},
pages={109-114},
document_type={Article},
} 

@ARTICLE{
author={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},
year={2015},
title={Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual disabilities},
journal={TURKISH JOURNAL OF PEDIATRICS},
volume={57},
number={2},
pages={154-160},
document_type={Article},
} 

@ARTICLE{
author={Ruml Jelena,Cuturilo Goran,Lukac Marija K,Peters Hartmut},
year={2015},
title={Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation-Expanding the Phenotypic Spectrum},
journal={PEDIATRIC DERMATOLOGY},
volume={32},
number={3},
pages={421-422},
document_type={Article},
} 

@ARTICLE{
author={Skoric Dejan,Dimitrijevic Aleksandar N,Cuturilo Goran,Ivanovski Petar I},
year={2014},
title={Wiskott-Aldrich Syndrome with Macrothrombocytopenia},
journal={INDIAN PEDIATRICS},
volume={51},
number={12},
pages={1015-1016},
document_type={Article},
} 

@ARTICLE{
author={Cuturilo Goran,Drakulic Danijela D,Krstic Aleksandar,Gradinac Marija,Ilisic Tamara M,Parezanovic Vojislav M,Milivojevic Milena C,Stevanovic Milena J,Jovanovic Ida V},
year={2013},
title={The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2},
journal={CARDIOLOGY IN THE YOUNG},
volume={23},
number={2},
pages={181-188},
document_type={Article},
} 

@ARTICLE{
author={Medjo Biljana P,Atanaskovic-Markovic Marina,Nikolic Dimitrije M,Cuturilo Goran,Djukic Slobodanka V},
year={2012},
title={Inhaled Nitric Oxide Therapy for Acute Respiratory Distress Syndrome in Children},
journal={INDIAN PEDIATRICS},
volume={49},
number={7},
pages={573-576},
document_type={Article},
} 

@ARTICLE{
author={Mitic Vesna,Cuturilo Goran,Novakovic Ivana V,Dimitrijevic Nikola,Damnjanovic Tatjana M,Dimitrijevic Aleksandar N,Dobricic Valerija S,Kostic Vladimir S,Radlovic Nedeljko P},
year={2011},
title={Epilepsy in a Child with Wolf-Hirschhorn Syndrome},
journal={SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO},
volume={139},
number={11-12},
pages={795-799},
document_type={Article},
} 

@ARTICLE{
author={Cuturilo Goran,Menten Bjorn,Krstic Aleksandar,Drakulic Danijela D,Jovanovic Ida V,Parezanovic Vojislav M,Stevanovic Milena J},
year={2011},
title={4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome},
journal={EUROPEAN JOURNAL OF PEDIATRICS},
volume={170},
number={11},
pages={1465-1470},
document_type={Article},
} 

@ARTICLE{
author={Cuturilo Goran,Stefanovic Igor D,Jovanovic Ida V,Miletic-Grkovic Slobodanka,Novakovic Ivana V},
year={2009},
title={Mowat-Wilson Syndrome - A Case Report},
journal={SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO},
volume={137},
number={7-8},
pages={426-429},
document_type={Article},
} 

@ARTICLE{
author={Atanaskovic-Markovic Marina,Gavrovic-Jankulovic Marija Dj,Cirkovic-Velickovic Tanja D,Vuckovic Olga,Ivanovski Petar I,Nestorovic Branimir,Cuturilo Goran,Simic Dusica M},
year={2008},
title={Intraoperative anaphylactic shock in a child with no history of type I hypersensitivity},
journal={IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY},
volume={7},
number={2},
pages={97-99},
document_type={Article},
} 

@ARTICLE{
author={Cuturilo Goran,Drakulic Danijela D,Stevanovic Milena J,Jovanovic Ida V,Djukic Milan M,Miletic-Grkovic Slobodanka,Atanaskovic-Markovic Marina},
year={2008},
title={A rare association of interrupted aortic arch type C and microdeletion 22q11.2},
journal={EUROPEAN JOURNAL OF PEDIATRICS},
volume={167},
number={10},
pages={1195-1198},
document_type={Article},
} 

@ARTICLE{
author={Cuturilo Goran,Jovanovic Ida V,Vukomanovic Goran V,Djukic Milan M,Stefanovic Igor D,Atanaskovic-Markovic Marina},
year={2008},
title={Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: Further delineation of presumed new dysmorphic syndrome},
journal={BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY},
volume={82},
number={3},
pages={166-168},
document_type={Article},
}