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 2020-03-01 to 2024-03-01.)

Article	Citations
Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma	31
Mechanisms of structural chromosomal rearrangement formation	23
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases	15
Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging	15
Application value of NIPT for uncommon fetal chromosomal abnormalities	14
False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?	11
Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases	11
Uniparental disomy is a chromosomic disorder in the first place	11
Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion?	10
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations	9
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China	8
A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family	8
Copy number variations associated with fetal congenital kidney malformations	7
Turner’s syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis	7
Identification of a familial complex chromosomal rearrangement by optical genome mapping	6
Mapping epigenetic modifications on chicken lampbrush chromosomes	6
Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports	6
Non-invasive prenatal screening for Emanuel syndrome	6
Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes	5
Prenatal diagnosis of rearrangements in the fetal 22q11.2 region	5
Does ICSI for in vitro fertilization cause more aneuploid embryos?	5
Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center	5
A rare case of acute promyelocytic leukemia with ider(17)(q10)t(15;17)(q22;q21) and favorable outcome	5
Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene	5
Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis	5

Chromosomal instability (CIN) in HAP1 cell lines revealed by multiplex fluorescence in situ hybridisation (M-FISH)	4
Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies	4
Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies	4
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis	4
Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis	4
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	4
Cytogenomic characterization of three murine malignant mesothelioma tumor cell lines	4
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome	4
13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping	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
Somatic mosaicism in the diseased brain	4
Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations	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
Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report	4
Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array	4
Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities	3
Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report	3
Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies	3
Frequent copy number variants in a cohort of Mexican-Mestizo individuals	3
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review	3
Chinese hamster ovary cell line DXB-11: chromosomal instability and karyotype heterogeneity	3
Comprehensive analysis of three female patients with different types of X/Y translocations and literature review	3
Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder	3
Prenatal diagnosis of mosaic trisomy 2 and literature review	3
Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report	3
Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders	3
Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array	3
Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review	3
Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review	3
Clinical significance and mechanisms associated with segmental UPD	3
Gross genetic alterations and genetic heterogeneity in a periductal stromal tumor of the breast	2
Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay	2
Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques	2
Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review	2
Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China	2
The pattern of gene copy number alteration (CNAs) in hepatocellular carcinoma: an in silico analysis	2
Molecular cytogenetic characterization and fusarium head blight resistance of five wheat-Thinopyrum intermedium partial amphiploids	2
Double Robertsonian translocations in an infertile patient with macrocytic anemia: a case report	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
Placing women in Cytogenetics: Lore Zech and the chromosome banding technique	2
Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports	2
Identification and characterization of satellite DNAs in Poa L.	2
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort	2
Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review	2
Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report	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
Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review	2
Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder	2
Complex rearrangement in acute myeloid leukemia M2 with RUNX1/RUNX1T1 fusion involving chromosomes 8, 17 and 21	2

Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype	2
Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature	2
Confined placental mosaicism of Duchenne muscular dystrophy: a case report	2
Comprehensive analysis of mutations and clonal evolution patterns in a cohort of patients with cytogenetically normal acute myeloid leukemia	2
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20	2
A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)	2
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes	2
MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent	2
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene	2
Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array	2
Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat	1
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family	1
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities	1
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene	1
Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies	1
Sole trisomy 6 an uncommon finding in pediatric acute myeloid leukemia, probably associated to bad prognosis	1
Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene	1
Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report	1
Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis	1
A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome	1
Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues	1
ZNF384 rearrangement in acute lymphocytic leukemia with renal involvement as the first manifestation is associated with a poor prognosis: a case report	1
Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array	1
Cytogenomic epileptology	1
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report	1
New insights regarding origin of monosomy occurrence in early developing embryos as demonstrated in preimplantation genetic testing	1
Svetlana G. Vorsanova (1945–2021)	1
Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review	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
Cytogenomic characteristics of murine breast cancer cell line JC	1
Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin	1
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism	1
A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report	1
A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3	1
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis	1
Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review	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
Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience	1
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate	1
21q22 amplification detection in three patients with acute myeloid leukemia: cytogenomic profiling and literature review	1
Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome	1
A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review	1
Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan	1