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 2020-05-01 to 2024-05-01.)

Article	Citations
Mechanisms of structural chromosomal rearrangement formation	28
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases	17
Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging	16
Application value of NIPT for uncommon fetal chromosomal abnormalities	15
Uniparental disomy is a chromosomic disorder in the first place	14
False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?	14
Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases	12
Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion?	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
Turner’s syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis	8
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China	8
Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis	8
Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports	6
Identification of a familial complex chromosomal rearrangement by optical genome mapping	6
Mapping epigenetic modifications on chicken lampbrush chromosomes	6
Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes	6
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
Does ICSI for in vitro fertilization cause more aneuploid embryos?	5
Prenatal diagnosis of rearrangements in the fetal 22q11.2 region	5
Chromosomal instability (CIN) in HAP1 cell lines revealed by multiplex fluorescence in situ hybridisation (M-FISH)	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
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review	5

Chinese hamster ovary cell line DXB-11: chromosomal instability and karyotype heterogeneity	4
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
Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis	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
Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies	4
Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array	4
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis	4
Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations	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
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
Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report	4
Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder	4
Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report	4
Frequent copy number variants in a cohort of Mexican-Mestizo individuals	3
Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review	3
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
Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype	3
Prenatal diagnosis of mosaic trisomy 2 and literature review	3
Clinical significance and mechanisms associated with segmental UPD	3
Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene	3
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes	3
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene	3
Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review	3
Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature	3
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
Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues	3