OOIR: Observatory of International Research

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 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 frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations	10
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China	10
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis	8
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
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
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
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
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
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

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
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
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
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
Gross genetic alterations and genetic heterogeneity in a periductal stromal tumor of the breast	2
Cytogenomic epileptology	2
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate	2
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 pat	2
Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report	2
17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation	2
A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report	2
Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin	2
Complex rearrangement in acute myeloid leukemia M2 with RUNX1/RUNX1T1 fusion involving chromosomes 8, 17 and 21	2
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report	2
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort	2
Identification of chromosomal abnormalities in miscarriages by CNV-Seq	2
Cytogenomic characteristics of murine breast cancer cell line JC	2
A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review	2
Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder	2
Detailed molecular cytogenetic characterisation of the myeloid cell line U937 reveals the fate of homologous chromosomes and shows that centromere capture is a feature of genome instability	2
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities	2
Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay	2
Comprehensive analysis of mutations and clonal evolution patterns in a cohort of patients with cytogenetically normal acute myeloid leukemia	2
Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report	2
MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent	2

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family	2
Placing women in Cytogenetics: Lore Zech and the chromosome banding technique	2
Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction	1
Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report	1
ZNF384 rearrangement in acute lymphocytic leukemia with renal involvement as the first manifestation is associated with a poor prognosis: a case report	1
Analysis of copy number variants detected by sequencing in spontaneous abortion	1
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis	1
Cytogenetic and mutational analysis and outcome assessment of a cohort of 284 children with de novo acute myeloid leukemia reveal complex karyotype as an adverse risk factor for inferior survival	1
New insights regarding origin of monosomy occurrence in early developing embryos as demonstrated in preimplantation genetic testing	1
Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects	1
21q22 amplification detection in three patients with acute myeloid leukemia: cytogenomic profiling and literature review	1
Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses	1
A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome	1
Molecular combing and its application in clinical settings	1
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism	1
Aneuploid abortion correlates positively with MAD1 overexpression and miR-125b down-regulation	1
Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review	1
Cytogenetic culture failure and its causes in hematological disorders; a single centre perspective	1
Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies	1
Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?	1
Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report	1
Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome	1
Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening	1
Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review	1
Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan	1
A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3	1
Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review	1
Svetlana G. Vorsanova (1945–2021)	1
Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report	1
Preimplantation genetic testing for Aicardi–Goutières syndrome induced by novel compound heterozygous mutations of TREX1: an unaffected live birth	1