OOIR: Observatory of International Research

Papers

(The median citation count of Molecular Cytogenetics 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 2022-06-01 to 2026-06-01.)

Article	Citations
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis	107
Analysis of chromosomal aberrations in early pregnancy loss using high-throughput ligation-dependent probe amplification and single tandem repeats	42
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report	16
Maternal uniparental disomy of chromosome 15 with concurrent paternal non-chromosome 15 marker chromosome: a rare presentation of prader-willi syndrome	16
Machine learning-based identification of telomere-related gene signatures for prognosis and immunotherapy response in hepatocellular carcinoma	15
Optical genome mapping enhances cytogenetic analysis in recurrent miscarriage: confirmation of a suspected (1;10) chromosomal translocation	12
Family case of Potocki-Lupski syndrome	11
Prenatal diagnosis of 1q21.1 microdeletions and microduplications: a retrospective case series	10
Comparative analysis of hybrid-SNP microarray and nanopore sequencing for detection of large-sized copy number variants in the human genome	10
Clinical features associated with maternal uniparental disomy for chromosome 6	10
What the VAF? A guide to the interpretation of variant allele fraction, percent mosaicism, and copy number in cancer	10
Cytogenetic patterns of hematologic malignancies before, during and after the COVID-19 pandemic: a single-center retrospective study in Thailand	8
Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs	8
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
Novel MSH6 exon 5–6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management	7
A de Novo 2q23.1–2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization	7
Somatic mosaicism in the diseased brain	7
Comprehensive analysis of three female patients with different types of X/Y translocations and literature review	7
Mechanisms of structural chromosomal rearrangement formation	7
Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders	6
Cytogenomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals TCR rearrangements as predictive factors for exceptional prognosis	6
Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment	6
Identification of chromosomal abnormalities in miscarriages by CNV-Seq	6
Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa	6
Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement	6

Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray	6
Loss of heterozygosity impacts MHC expression on the immune microenvironment in CDK12-mutated prostate cancer	6
Insights into avian molecular cytogenetics—with reptilian comparisons	6
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature	5
Preparing high-quality chromosome spreads from Crocus species for karyotyping and FISH	5
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium	5
Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature	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
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
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?	4
Complex genomic rearrangements of the Y chromosome in a premature infant	4
Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism	4
A novel approach for direct detection of the IGH::CRLF2 gene fusion by fluorescent in situ hybridization	4
Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes	4
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort	3
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report	3
Cytogenetic profile of chronic myeloid leukaemia patients resistant to imatinib at tertiary level in Indonesia	3
Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview	3
Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement	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
Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights	3
Disheveled associated activator of morphogenesis 2 variants may produce alport-like changes: a case report	3
Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results	3
Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies	3
A case report on atypical chromosomal variations in Turner syndrome	3
Acquired pericentric inversion of der(9) with BCR and ABL1 codeletion in chronic myeloid leukemia: a rare cytogenetic finding from Mali	3
Identification of a familial complex chromosomal rearrangement by optical genome mapping	3
Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy	3
Frequent copy number variants in a cohort of Mexican-Mestizo individuals	2
Detection of regions of homozygosity in an unusual case of frontonasal dysplasia	2
Application of third-generation sequencing technology in the genetic testing of thalassemia	2
Epigenomic insights and computational advances in hematologic malignancies	2
BCR::ABL1-like acute lymphoblastic leukaemia: a single institution experience on identification of potentially therapeutic targetable cases	2
Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications	2
Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature review	2
Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction	2
Optical genome mapping identifies novel ENOX2::RUNX1 t(X;21)(q26.1;q22.12) rearrangement in acute myeloid leukemia-myelodysplasia related: first case report	2
Application of chromosomal microarray analysis for fetuses with nasal bone agenesis or hypoplasia	2
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review	2
Clinical and molecular characterization of 18p deletion syndrome and a novel case with reproductive disorder	2
Integrated cytogenetic and genomic profiling of the MDS-L cell line	2
Genetic analysis of an asymptomatic female with a large Xp deletion revealed insights into the X chromosome inactivation pattern: a case report	2
Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion	2
Genomic landscape of childhood acute lymphoblastic leukemia in Malaysia: insights from array-CGH	2
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family	2
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population	2
Correction: X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature	2
Long-read sequencing unmasks a cryptic three-way translocation resulting in an ETV6::PDGFRB fusion	2

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 5p13.3p13.2 microduplication in a Chinese family	2
Genome-wide copy-number analysis improves detection of pathogenic AZFc and autosomal variants in idiopathic non-obstructive azoospermia	2
Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience	2
Performance of cell free DNA as a screening tool based on the results of first trimester screening	1
Neutropenia is a consistent and the earliest manifestation of Cohen’s syndrome: three cases and two novel variants in VPS13B gene	1
Molecular combing and its application in clinical settings	1
Genome-wide detection of CNV regions between Anqing six-end-white and Duroc pigs	1
Cytogenomic features of Richter transformation	1
Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening	1
Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings	1
Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study	1
Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report	1
Proximal 4p deletion syndrome in a woman with intellectual disability: a case report and literature review	1
Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report	1
A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome	1
Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review	1
Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features	1
Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China	1
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study	1
What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?	1
A methodological study on the process of prenatal optical genome mapping: focusing on cell culture and quality control	1
First case of two supernumerary markers derived from chromosome 5 and chromosome 8	1
Incorporating automation in a cytogenetics laboratory: three practitioners’ perspectives on benefits and limitations	1
Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency	1