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 2020-11-01 to 2024-11-01.)

Article	Citations
Mechanisms of structural chromosomal rearrangement formation	41
False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?	20
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases	19
Uniparental disomy is a chromosomic disorder in the first place	16
Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis	14
Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases	13
Turner’s syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis	12
Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion?	12
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China	10
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations	10
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis	8
Somatic mosaicism in the diseased brain	7
About classical molecular genetics, cytogenetic and molecular cytogenetic data not considered by Genome Reference Consortium and thus not included in genome browsers like UCSC, Ensembl or NCBI	7
Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports	7
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review	7
Chromosomal instability (CIN) in HAP1 cell lines revealed by multiplex fluorescence in situ hybridisation (M-FISH)	6
Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array	6
Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review	6
Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies	6
Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene	6
Identification of a familial complex chromosomal rearrangement by optical genome mapping	6
Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center	5
Clinical significance and mechanisms associated with segmental UPD	5
Frequent copy number variants in a cohort of Mexican-Mestizo individuals	5
Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report	5

Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders	4
Comprehensive analysis of three female patients with different types of X/Y translocations and literature review	4
Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distich	4
Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities	4
Clinico-Hematological and cytogenetic spectrum of adult myelodysplastic syndrome: The first retrospective cross-sectional study in Iranian patients	4
Small supernumerary marker chromosomes derived from chromosome 14 and/or 22	4
Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis	4
Chinese hamster ovary cell line DXB-11: chromosomal instability and karyotype heterogeneity	4
The pattern of gene copy number alteration (CNAs) in hepatocellular carcinoma: an in silico analysis	4
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes	4
Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype	4
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20	3
A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)	3
Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review	3
Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues	3
Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature	3
Identification and characterization of satellite DNAs in Poa L.	3
Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience	3
Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review	3
Molecular cytogenetic characterization and fusarium head blight resistance of five wheat-Thinopyrum intermedium partial amphiploids	3
Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array	3
Identification of complex and cryptic chromosomal rearrangements by optical genome mapping	3
Confined placental mosaicism of Duchenne muscular dystrophy: a case report	3
Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene	3
Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China	3
Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports	3
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene	3
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene	3
Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques	3