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 2021-05-01 to 2025-05-01.)

Article	Citations
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report	59
Family case of Potocki-Lupski syndrome	29
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis	23
Machine learning-based identification of telomere-related gene signatures for prognosis and immunotherapy response in hepatocellular carcinoma	16
Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs	13
Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin	12
Clinical features associated with maternal uniparental disomy for chromosome 6	10
Mechanisms of structural chromosomal rearrangement formation	8
Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders	7
Comprehensive analysis of three female patients with different types of X/Y translocations and literature review	7
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	7
Novel MSH6 exon 5–6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management	7
Identification of chromosomal abnormalities in miscarriages by CNV-Seq	7
Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray	7
Somatic mosaicism in the diseased brain	7
A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study	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
Loss of heterozygosity impacts MHC expression on the immune microenvironment in CDK12-mutated prostate cancer	6
Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders	6
Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype	6
Investigating residual leukemic cells in acute lymphoblastic leukemia: a practical approach using a streamlined interphase fluorescence in situ hybridization method on cerebrospinal fluid	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
Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review	5

X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature	4
Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder	4
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?	4
Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment	4
Clinical significance and mechanisms associated with segmental UPD	4
Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype	4
Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization	3
Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature	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
A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report	3
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20	3
Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes	3
Preparing high-quality chromosome spreads from Crocus species for karyotyping and FISH	3
A novel approach for direct detection of the IGH::CRLF2 gene fusion by fluorescent in situ hybridization	3
Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports	3
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort	3
Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects	3
Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature	3
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism	3
Complex genomic rearrangements of the Y chromosome in a premature infant	3
Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results	3
Differentially accessible, single copy sequences form contiguous domains along metaphase chromosomes that are conserved among multiple tissues	3
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate	3