Molecular Cytogenetics

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.)
ArticleCitations
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report59
Family case of Potocki-Lupski syndrome29
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis23
Machine learning-based identification of telomere-related gene signatures for prognosis and immunotherapy response in hepatocellular carcinoma16
Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs13
Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin12
Clinical features associated with maternal uniparental disomy for chromosome 610
Mechanisms of structural chromosomal rearrangement formation8
Novel MSH6 exon 5–6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management7
Identification of chromosomal abnormalities in miscarriages by CNV-Seq7
Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray7
Somatic mosaicism in the diseased brain7
Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders7
Comprehensive analysis of three female patients with different types of X/Y translocations and literature review7
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases7
Loss of heterozygosity impacts MHC expression on the immune microenvironment in CDK12-mutated prostate cancer6
Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders6
Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype6
A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study6
Cytogenomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals TCR rearrangements as predictive factors for exceptional prognosis6
Insights into avian molecular cytogenetics—with reptilian comparisons6
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium5
Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement5
Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review5
Investigating residual leukemic cells in acute lymphoblastic leukemia: a practical approach using a streamlined interphase fluorescence in situ hybridization method on cerebrospinal fluid5
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?4
Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment4
Clinical significance and mechanisms associated with segmental UPD4
Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype4
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature4
Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder4
Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes3
Preparing high-quality chromosome spreads from Crocus species for karyotyping and FISH3
A novel approach for direct detection of the IGH::CRLF2 gene fusion by fluorescent in situ hybridization3
Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports3
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort3
Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects3
Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature3
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism3
Complex genomic rearrangements of the Y chromosome in a premature infant3
Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results3
Differentially accessible, single copy sequences form contiguous domains along metaphase chromosomes that are conserved among multiple tissues3
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate3
Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization3
Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature3
Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview3
Identification of a familial complex chromosomal rearrangement by optical genome mapping3
A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report3
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 203
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review2
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population2
Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report2
Detection of regions of homozygosity in an unusual case of frontonasal dysplasia2
Epigenomic insights and computational advances in hematologic malignancies2
Myelodysplastic syndrome presenting with central diabetes insipidus is associated with monosomy 7, visible or hidden: report of two cases and literature review2
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family2
A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes2
Application of third-generation sequencing technology in the genetic testing of thalassemia2
Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report2
Frequent copy number variants in a cohort of Mexican-Mestizo individuals2
Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction2
Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center2
Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities2
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report2
Correction: X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature2
Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review2
Complex rearrangement in acute myeloid leukemia M2 with RUNX1/RUNX1T1 fusion involving chromosomes 8, 17 and 212
BCR::ABL1-like acute lymphoblastic leukaemia: a single institution experience on identification of potentially therapeutic targetable cases2
Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency1
The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing1
Uniparental disomy is a chromosomic disorder in the first place1
Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening1
Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings1
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study1
Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study1
Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay1
Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report1
Cytogenomic features of Richter transformation1
First case of two supernumerary markers derived from chromosome 5 and chromosome 81
Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report1
Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array1
Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia1
Molecular combing and its application in clinical settings1
Performance of cell free DNA as a screening tool based on the results of first trimester screening1
Genomic landscape of childhood acute lymphoblastic leukemia in Malaysia: insights from array-CGH1
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 pat1
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China1
Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience1
A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review1
A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome1
MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent1
Genome-wide detection of CNV regions between Anqing six-end-white and Duroc pigs1
Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review1
Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome1
Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies1
Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases1
Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications1
ZNF384 rearrangement in acute lymphocytic leukemia with renal involvement as the first manifestation is associated with a poor prognosis: a case report1
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