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

Article	Citations
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis	87
Optical genome mapping enhances cytogenetic analysis in recurrent miscarriage: confirmation of a suspected (1;10) chromosomal translocation	33
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report	26
Analysis of chromosomal aberrations in early pregnancy loss using high-throughput ligation-dependent probe amplification and single tandem repeats	20
Maternal uniparental disomy of chromosome 15 with concurrent paternal non-chromosome 15 marker chromosome: a rare presentation of prader-willi syndrome	14
Machine learning-based identification of telomere-related gene signatures for prognosis and immunotherapy response in hepatocellular carcinoma	12
Family case of Potocki-Lupski syndrome	12
Comparative analysis of hybrid-SNP microarray and nanopore sequencing for detection of large-sized copy number variants in the human genome	10
Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin	10
Clinical features associated with maternal uniparental disomy for chromosome 6	9
What the VAF? A guide to the interpretation of variant allele fraction, percent mosaicism, and copy number in cancer	9
Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs	9
Prenatal diagnosis of 1q21.1 microdeletions and microduplications: a retrospective case series	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
Novel MSH6 exon 5–6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management	7
Somatic mosaicism in the diseased brain	7
Mechanisms of structural chromosomal rearrangement formation	7
Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray	6
Comprehensive analysis of three female patients with different types of X/Y translocations and literature review	6
Insights into avian molecular cytogenetics—with reptilian comparisons	5
Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders	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
Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype	5
A de Novo 2q23.1–2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization	5
Cytogenomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals TCR rearrangements as predictive factors for exceptional prognosis	5

X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature	5
Identification of chromosomal abnormalities in miscarriages by CNV-Seq	5
Loss of heterozygosity impacts MHC expression on the immune microenvironment in CDK12-mutated prostate cancer	5
Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement	5
Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment	4
Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature	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
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium	4
Complex genomic rearrangements of the Y chromosome in a premature infant	4
A novel approach for direct detection of the IGH::CRLF2 gene fusion by fluorescent in situ hybridization	4
Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype	4
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?	4
Preparing high-quality chromosome spreads from Crocus species for karyotyping and FISH	4
Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes	4
Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results	3
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort	3
Cytogenetic profile of chronic myeloid leukaemia patients resistant to imatinib at tertiary level in Indonesia	3
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review	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
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
Identification of a familial complex chromosomal rearrangement by optical genome mapping	3
A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes	3
Application of third-generation sequencing technology in the genetic testing of thalassemia	3
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report	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
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate	3
Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report	3
Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities	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
Genomic landscape of childhood acute lymphoblastic leukemia in Malaysia: insights from array-CGH	2
Genetic analysis of an asymptomatic female with a large Xp deletion revealed insights into the X chromosome inactivation pattern: a case report	2
BCR::ABL1-like acute lymphoblastic leukaemia: a single institution experience on identification of potentially therapeutic targetable cases	2
Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report	2
Frequent copy number variants in a cohort of Mexican-Mestizo individuals	2
Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience	2
Integrated cytogenetic and genomic profiling of the MDS-L cell line	2
Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features	2
Detection of regions of homozygosity in an unusual case of frontonasal dysplasia	2
Epigenomic insights and computational advances in hematologic malignancies	2
Long-read sequencing unmasks a cryptic three-way translocation resulting in an ETV6::PDGFRB fusion	2
Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications	2
Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study	2
Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome	2
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family	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
Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction	2
Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies	2

Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family	1
Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review	1
Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients	1
Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings	1
Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China	1
Cytogenomic features of Richter transformation	1
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study	1
A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome	1
A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review	1
Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with	1
Characteristics and clinical evaluation of X chromosome translocations	1
Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report	1
Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report	1
Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening	1
Performance of cell free DNA as a screening tool based on the results of first trimester screening	1
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes	1
Proximal 4p deletion syndrome in a woman with intellectual disability: a case report and literature review	1
First case of two supernumerary markers derived from chromosome 5 and chromosome 8	1
Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency	1
Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing	1
Genome-wide detection of CNV regions between Anqing six-end-white and Duroc pigs	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
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
ZNF384 rearrangement in acute lymphocytic leukemia with renal involvement as the first manifestation is associated with a poor prognosis: a case report	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
Incorporating automation in a cytogenetics laboratory: three practitioners’ perspectives on benefits and limitations	1
Uniparental disomy is a chromosomic disorder in the first place	1