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 2020-04-01 to 2024-04-01.)

Article	Citations
Mechanisms of structural chromosomal rearrangement formation	27
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases	17
Application value of NIPT for uncommon fetal chromosomal abnormalities	15
Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging	15
False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?	13
Uniparental disomy is a chromosomic disorder in the first place	13
Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion?	11
Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases	11
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations	9
A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family	8
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China	8
Turner’s syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis	7
Mapping epigenetic modifications on chicken lampbrush chromosomes	6
Identification of a familial complex chromosomal rearrangement by optical genome mapping	6
Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports	6
Does ICSI for in vitro fertilization cause more aneuploid embryos?	5
Prenatal diagnosis of rearrangements in the fetal 22q11.2 region	5
Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis	5
A rare case of acute promyelocytic leukemia with ider(17)(q10)t(15;17)(q22;q21) and favorable outcome	5
Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array	5
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	5
Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes	5
Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene	5
Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center	5
13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping	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
Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations	4
Chromosomal instability (CIN) in HAP1 cell lines revealed by multiplex fluorescence in situ hybridisation (M-FISH)	4
Chinese hamster ovary cell line DXB-11: chromosomal instability and karyotype heterogeneity	4
Clinico-Hematological and cytogenetic spectrum of adult myelodysplastic syndrome: The first retrospective cross-sectional study in Iranian patients	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
Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis	4
Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report	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
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
Somatic mosaicism in the diseased brain	4
Cytogenomic characterization of three murine malignant mesothelioma tumor cell lines	4
Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies	4
Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders	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
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
Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report	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 mosaic trisomy 2 and literature review	3
Clinical significance and mechanisms associated with segmental UPD	3
Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities	3
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes	3
Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies	3
Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype	3
Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review	3
Double Robertsonian translocations in an infertile patient with macrocytic anemia: a case report	2
Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues	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
Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array	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
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
Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review	2
A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report	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
Gross genetic alterations and genetic heterogeneity in a periductal stromal tumor of the breast	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
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
MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent	2
Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin	2
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene	2
Placing women in Cytogenetics: Lore Zech and the chromosome banding technique	2
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report	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
Identification of chromosomal abnormalities in miscarriages by CNV-Seq	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
Molecular cytogenetic characterization and fusarium head blight resistance of five wheat-Thinopyrum intermedium partial amphiploids	2
Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review	1
Svetlana G. Vorsanova (1945–2021)	1
Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene	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
A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review	1
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism	1
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family	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
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
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate	1
Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review	1
21q22 amplification detection in three patients with acute myeloid leukemia: cytogenomic profiling and literature review	1
A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3	1
Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports	1
A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome	1
Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan	1
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
Cytogenomic epileptology	1
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities	1
New insights regarding origin of monosomy occurrence in early developing embryos as demonstrated in preimplantation genetic testing	1
Sole trisomy 6 an uncommon finding in pediatric acute myeloid leukemia, probably associated to bad prognosis	1
Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience	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
Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction	1
Cytogenomic characteristics of murine breast cancer cell line JC	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
Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis	1