OOIR: Observatory of International Research

Papers

(The median citation count of Balkan Journal of Medical Genetics is 1. 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 2020-03-01 to 2024-03-01.)

Article	Citations
De novo KMT2D heterozygous frameshift deletion in a newborn with a congenital heart anomaly	7
Evaluation of microRNA-124 expression in renal cell carcinoma	7
Dual effect of the GHRL gene variant in the molecular pathogenesis of obesity	4
Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family	4
Association of the brain-derived neurotrophic factor Val66Met polymorphism with body mass index, fasting glucose levels and lipid status in adolescents	4
An investigation of the COMT gene Val158Met polymorphism in patients admitted to the emergency department because of synthetic cannabinoid use	4
Genetic spectrum of neonatal diabetes	4
Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene	4
The expression levels of microRNAs associated with T and B cell differentiation/stimulation in ankylosing spondylitis	4
β-Elemene inhibits the proliferation and migration of human glioblastoma cell lines via suppressing ring finger protein 135	4
Familial non-autoimmune hyperthyroidism in family members across four generations due to a novel disease-causing variant in the thyrotropin receptor gene	4
Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability	3
Osteopetrorickets in an infant with coexistent congenital cytomegalovirus infection	3
Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature	3
Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience	3
Genetic association of solute carrier transporter gene variants with metformin response	3
Simultaneously both expression of LMP-1 and methylation of E-cadherin: Molecular biomarker in stage IV of nasopharyngeal carcinoma patients	3
A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features	3
Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients	2
Comparative analysis of genes associated with obesity in humans using bioinformatic data and tools	2
A new splice-site mutation of SPINK5 gene in the Netherton syndrome with different clinical features: A case report	2
Pros and cons for fluorescent in situ hybridization, karyotyping and next generation sequencing for diagnosis and follow-up of multiple myeloma	2
Bilateral renal angiomyolipomas and subependymal giant cell astrocytoma associated with tuberous sclerosis complex: A case report and review of the literature	2
Increased expression of Cardiotrophin-1 in cardiomyopathy patients	2
The utility of whole exome sequencing in diagnosing pediatric neurological disorders	2

Implication of VDR rs7975232 and FCGR2A rs1801274 gene polymorphisms in the risk and the prognosis of autoimmune thyroid diseases in the Tunisian population	2
RANKL is a new epigenetic biomarker for the vasomotor symptom during Menopause	2
The effects of O⁶-methyl guanine DNA-methyl transferase promotor methylation and CpG1, CpG2, CpG3 and CpG4 methylation on treatment response and their prognostic significance in patients wi	2
Vitamin D receptor polymorphisms among the Turkish population are associated with multiple sclerosis	2
Frequencies of theMEFVGene Mutations in Azerbaijan	2
Risk Factors of Venous Thromboembolism in Sudanese Pregnant Women	2
Two years of newborn screening for cystic fibrosis in North Macedonia: First experience	2
Relationship between chromosomal aberrations and gene expressions in the p53 pathway in chronic lymphocytic leukemia	1
Do we use methylation of NFATC1 and FOS genes as a biomarker for postmenopausal osteoporosis?	1
Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report	1
Influence of potential gene polymorphisms on propofol dosage regimen in patients undergoing abdominal hysterectomy	1
Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report	1
Identification of key target genes and pathway analysis in nonalcoholic fatty liver disease via integrated bioinformatics analysis	1
PCSK9 gene participates in the development of primary dyslipidemias	1
Two novel CEBPA mutations in a Turkish patient with acute myeloid leukemia	1
A case of glycogen storage disease type 1a mimicking familial chylomicronemia syndrome	1
Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems	1
The interaction of female age and active male smoking has negative influence on success rates of the in vitro fertilization treatments	1
GA genotype of the Arg280His polymorphism on the XRCC1 gene: Genetic susceptibility genotype in differentiated thyroid carcinomas?	1
APOE4 Status and cognitive function in middle-aged and elderly people	1