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 2022-01-01 to 2026-01-01.)

Article	Citations
A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity	6
Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report	4
Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?	4
Determination of the Relationship Between DNA Methylation Status of KLOTHO and ARNTL Genes With Hypertension	3
Preimplantation Genetic Testing within the Public Healthcare System in Slovenia	3
APOE4 Status and cognitive function in middle-aged and elderly people	2
Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples	2
Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21	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
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
Vitamin D receptor polymorphisms among the Turkish population are associated with multiple sclerosis	1
Keratitis-ichthyosis-deafness syndrome with heterozygous p.D50N in the GJB2 gene in two Serbian adult patients	1
Identification of key target genes and pathway analysis in nonalcoholic fatty liver disease via integrated bioinformatics analysis	0
“We’ve opened pandora’s box, haven’t we?” clinical geneticists’ views on ethical aspects of genomic testing in neonatal intensive care	0
Matrix metalloproteinase-2 (MMP-2 ) and-9 (MMP-9) gene variants and microvascular complications in type 2 diabetes patients	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
Double isochromosome X, A rare cytogenetic variant of turner syndrome: A case report and a review of the literature	0
EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay	0
Comprehensive genetic evaluation of Bulgarian children with syndromic craniosynostosis	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
Single nucleotide polymorphisms in IL-1A RS1800587, IL-1B RS1143634 and vitamin D receptor rs731236 in stage III grade B/C periodontitis	0
A novel variant in the LIPA gene associated with distinct phenotype	0
Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder	0

Co-Existence of CYP2C19*1/*2 and ABCB1c.3435 CT Genotype has a Potential Impact on Clinical Outcome in CAD Patients Treated with Clopidogrel