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 2021-04-01 to 2025-04-01.)

Article	Citations
Investigating residual leukemic cells in acute lymphoblastic leukemia: a practical approach using a streamlined interphase fluorescence in situ hybridization method on cerebrospinal fluid	57
Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report	27
Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome	16
Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review	16
Chromosomal instability (CIN) in HAP1 cell lines revealed by multiplex fluorescence in situ hybridisation (M-FISH)	13
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene	10
Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype	10
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis	8
Machine learning-based identification of telomere-related gene signatures for prognosis and immunotherapy response in hepatocellular carcinoma	7
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report	7
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium	7
Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement	7
Phenotypic and genotypic insights into concurrent tertiary trisomy for 9p and 18p	7
A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes	7
Identification of complex and cryptic chromosomal rearrangements by optical genome mapping	6
Application of third-generation sequencing technology in the genetic testing of thalassemia	6
Analysis of copy number variants detected by sequencing in spontaneous abortion	6
Performance of cell free DNA as a screening tool based on the results of first trimester screening	6
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review	6
Aneuploid abortion correlates positively with MAD1 overexpression and miR-125b down-regulation	5
Correction: X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature	5
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature	5
Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search	4
Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review	4
Family case of Potocki-Lupski syndrome	4

Clinical significance and mechanisms associated with segmental UPD	4
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population	4
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study	4
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities	4
Cytogenomic epileptology	4
False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?	4
Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment	3
Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report	3
Placing women in Cytogenetics: Lore Zech and the chromosome banding technique	3
Molecular combing and its application in clinical settings	3
Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis	3
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report	3
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene	3
Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review	3
Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening	3
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family	3
Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array	3
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders	3
Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder	3