OOIR: Observatory of International Research

Papers

(The median citation count of Balkan Journal of Medical Genetics is 0. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-08-01 to 2025-08-01.)

Article	Citations
Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report	5
A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity	5
Preimplantation Genetic Testing within the Public Healthcare System in Slovenia	4
Determination of the Relationship Between DNA Methylation Status of KLOTHO and ARNTL Genes With Hypertension	4
Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?	4
Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21	3
Targeted microRNA Profiling in Gastric Cancer with Clinical Assessement	3
APOE4 Status and cognitive function in middle-aged and elderly people	3
Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples	2
Droplet Digital PCR as a Molecular Tool for the Detection of the EGFR T790M Mutation in NSCLC Patients with the EGFR Activating Mutations	2
Keratitis-ichthyosis-deafness syndrome with heterozygous p.D50N in the GJB2 gene in two Serbian adult patients	2
Association Between the Polymorphism of Angiotensin-Converting Enzyme Gene and Interleukin-1 Beta Gene and the Response to Erythropoietin Therapy in Dialysis Patients with Anemia	1
Risk Factors of Venous Thromboembolism in Sudanese Pregnant Women	1
de novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita	1
Identification of key target genes and pathway analysis in nonalcoholic fatty liver disease via integrated bioinformatics analysis	1
Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies	1
Double isochromosome X, A rare cytogenetic variant of turner syndrome: A case report and a review of the literature	1
Vitamin D receptor polymorphisms among the Turkish population are associated with multiple sclerosis	1
Matrix metalloproteinase-2 (MMP-2 ) and-9 (MMP-9) gene variants and microvascular complications in type 2 diabetes patients	1
Single nucleotide polymorphisms in IL-1A RS1800587, IL-1B RS1143634 and vitamin D receptor rs731236 in stage III grade B/C periodontitis	1
Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report	0
Co-Existence of CYP2C191/2 and ABCB1c.3435 CT Genotype has a Potential Impact on Clinical Outcome in CAD Patients Treated with Clopidogrel	0
Association of Relative Telomere Length and Risk of High Human Papillomavirus Load in Cervical Epithelial Cells	0
Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder	0
A case of mody 2 - Associated hyperglycemia diagnosed as gestational diabetes	0

MIR-147B regulated proliferation and apoptosis of gastric cancer cells by targeting CPEB2 via the PTEN pathway	0
“We’ve opened pandora’s box, haven’t we?” clinical geneticists’ views on ethical aspects of genomic testing in neonatal intensive care	0
A novel variant in the LIPA gene associated with distinct phenotype	0
Comprehensive genetic evaluation of Bulgarian children with syndromic craniosynostosis	0
Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study	0
48,XYYY: A Rare Case Report	0
Having Multiple Renal Cysts in a Young Adult is Not Always a Sign of Polycystic Kidney Disease	0
Frequencies of the MEFV Gene Mutations in Azerbaijan	0
EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay	0
Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation	0
Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems	0
Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability	0
Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature	0
A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia	0
Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations	0