OOIR: Observatory of International Research

Papers

(The TQCC of Molecular Cytogenetics is 3. 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 2022-05-01 to 2026-05-01.)

Article	Citations
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis	102
Analysis of chromosomal aberrations in early pregnancy loss using high-throughput ligation-dependent probe amplification and single tandem repeats	41
Maternal uniparental disomy of chromosome 15 with concurrent paternal non-chromosome 15 marker chromosome: a rare presentation of prader-willi syndrome	16
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report	15
Family case of Potocki-Lupski syndrome	14
Machine learning-based identification of telomere-related gene signatures for prognosis and immunotherapy response in hepatocellular carcinoma	11
Prenatal diagnosis of 1q21.1 microdeletions and microduplications: a retrospective case series	10
Optical genome mapping enhances cytogenetic analysis in recurrent miscarriage: confirmation of a suspected (1;10) chromosomal translocation	10
Clinical features associated with maternal uniparental disomy for chromosome 6	10
Comparative analysis of hybrid-SNP microarray and nanopore sequencing for detection of large-sized copy number variants in the human genome	10
Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs	9
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases	8
Cytogenetic patterns of hematologic malignancies before, during and after the COVID-19 pandemic: a single-center retrospective study in Thailand	8
What the VAF? A guide to the interpretation of variant allele fraction, percent mosaicism, and copy number in cancer	8
A de Novo 2q23.1–2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization	7
Mechanisms of structural chromosomal rearrangement formation	7
Comprehensive analysis of three female patients with different types of X/Y translocations and literature review	7
Somatic mosaicism in the diseased brain	7
Identification of chromosomal abnormalities in miscarriages by CNV-Seq	7
Novel MSH6 exon 5–6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management	7
Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray	6
Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders	6
Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa	6
Cytogenomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals TCR rearrangements as predictive factors for exceptional prognosis	6
Insights into avian molecular cytogenetics—with reptilian comparisons	6

Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature	5
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium	5
Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement	5
Complex genomic rearrangements of the Y chromosome in a premature infant	5
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?	5
Investigating residual leukemic cells in acute lymphoblastic leukemia: a practical approach using a streamlined interphase fluorescence in situ hybridization method on cerebrospinal fluid	5
Loss of heterozygosity impacts MHC expression on the immune microenvironment in CDK12-mutated prostate cancer	5
Preparing high-quality chromosome spreads from Crocus species for karyotyping and FISH	5
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature	5
Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment	5
Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes	4
Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism	4
Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization	4
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism	4
A novel approach for direct detection of the IGH::CRLF2 gene fusion by fluorescent in situ hybridization	4
Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results	4
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort	3
Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights	3
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report	3
Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies	3
Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview	3
Identification of a familial complex chromosomal rearrangement by optical genome mapping	3
Cytogenetic profile of chronic myeloid leukaemia patients resistant to imatinib at tertiary level in Indonesia	3
A case report on atypical chromosomal variations in Turner syndrome	3
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population	3
Disheveled associated activator of morphogenesis 2 variants may produce alport-like changes: a case report	3
Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy	3
A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report	3
A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes	3
Correction: X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature	3
Acquired pericentric inversion of der(9) with BCR and ABL1 codeletion in chronic myeloid leukemia: a rare cytogenetic finding from Mali	3
Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement	3