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
Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review	16
Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome	16
Chromosomal instability (CIN) in HAP1 cell lines revealed by multiplex fluorescence in situ hybridisation (M-FISH)	13
Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype	10
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene	10
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis	8
A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes	7
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
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
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature	5
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
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

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
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
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