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 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
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
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
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
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
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
Investigating residual leukemic cells in acute lymphoblastic leukemia: a practical approach using a streamlined interphase fluorescence in situ hybridization method on cerebrospinal fluid	5

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
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
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
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
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review	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
Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report	2
Detection of regions of homozygosity in an unusual case of frontonasal dysplasia	2
Epigenomic insights and computational advances in hematologic malignancies	2
Myelodysplastic syndrome presenting with central diabetes insipidus is associated with monosomy 7, visible or hidden: report of two cases and literature review	2
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family	2
A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes	2
Application of third-generation sequencing technology in the genetic testing of thalassemia	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
Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction	2
Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center	2
Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities	2
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report	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
Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review	2
Complex rearrangement in acute myeloid leukemia M2 with RUNX1/RUNX1T1 fusion involving chromosomes 8, 17 and 21	2
BCR::ABL1-like acute lymphoblastic leukaemia: a single institution experience on identification of potentially therapeutic targetable cases	2
Uniparental disomy is a chromosomic disorder in the first place	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
Performance of cell free DNA as a screening tool based on the results of first trimester screening	1
Genomic landscape of childhood acute lymphoblastic leukemia in Malaysia: insights from array-CGH	1
De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced pat	1
Cytogenomic features of Richter transformation	1

First case of two supernumerary markers derived from chromosome 5 and chromosome 8	1
Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report	1
Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array	1
Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia	1
Molecular combing and its application in clinical settings	1
Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome	1
Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies	1
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China	1
Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases	1
Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience	1
A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review	1
A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome	1
MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent	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
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study	1
Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study	1
Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay	1
Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications	1
Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report	1
ZNF384 rearrangement in acute lymphocytic leukemia with renal involvement as the first manifestation is associated with a poor prognosis: a case report	1
Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency	1
The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing	1