Molecular Cytogenetics

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 2021-09-01 to 2025-09-01.)
ArticleCitations
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report71
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis31
Family case of Potocki-Lupski syndrome24
Optical genome mapping enhances cytogenetic analysis in recurrent miscarriage: confirmation of a suspected (1;10) chromosomal translocation18
Machine learning-based identification of telomere-related gene signatures for prognosis and immunotherapy response in hepatocellular carcinoma12
Analysis of chromosomal aberrations in early pregnancy loss using high-throughput ligation-dependent probe amplification and single tandem repeats12
Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin10
Maternal uniparental disomy of chromosome 15 with concurrent paternal non-chromosome 15 marker chromosome: a rare presentation of prader-willi syndrome10
Clinical features associated with maternal uniparental disomy for chromosome 610
Comparative analysis of hybrid-SNP microarray and nanopore sequencing for detection of large-sized copy number variants in the human genome9
What the VAF? A guide to the interpretation of variant allele fraction, percent mosaicism, and copy number in cancer9
Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs8
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases8
Somatic mosaicism in the diseased brain8
Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray7
Identification of chromosomal abnormalities in miscarriages by CNV-Seq7
Novel MSH6 exon 5–6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management7
Comprehensive analysis of three female patients with different types of X/Y translocations and literature review7
Mechanisms of structural chromosomal rearrangement formation7
A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study6
Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders6
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium5
Cytogenomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals TCR rearrangements as predictive factors for exceptional prognosis5
Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders5
Investigating residual leukemic cells in acute lymphoblastic leukemia: a practical approach using a streamlined interphase fluorescence in situ hybridization method on cerebrospinal fluid5
Insights into avian molecular cytogenetics—with reptilian comparisons5
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature5
Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype5
Loss of heterozygosity impacts MHC expression on the immune microenvironment in CDK12-mutated prostate cancer5
Preparing high-quality chromosome spreads from Crocus species for karyotyping and FISH4
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?4
Interstitial 11q deletion in a patient with Sprengel’s deformity: a case report and review of the literature4
Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement4
Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment4
Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder4
Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization3
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
Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results3
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population3
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review3
A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes3
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism3
Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes3
Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype3
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort3
Application of third-generation sequencing technology in the genetic testing of thalassemia3
Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities3
Identification of a familial complex chromosomal rearrangement by optical genome mapping3
Differentially accessible, single copy sequences form contiguous domains along metaphase chromosomes that are conserved among multiple tissues3
Complex genomic rearrangements of the Y chromosome in a premature infant3
Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview3
A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report3
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report3
Correction: X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature3
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate3
0.61319088935852