OOIR: Observatory of International Research

Papers

(The TQCC of Cancer Genetics 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 2021-09-01 to 2025-09-01.)

Article	Citations
135. Tumor deconvolution using comprehensive single-cell RNA sequencing cell type signatures	227
13. HPV forms chimeric virus-human transcripts that affect host gene expression in cervical tumors	93
27. Five-year experience of evaluating individuals at-risk for underlying genetic predisposition to hematologic malignancy	58
58. Improving the molecular diagnosis of SBDS-related disorders by identifying rare gene conversion events.	35
116. Integrating methylation profiling into adult brain tumor diagnostics - the Australian experience	34
96. A unique case presentation of pediatric spinal ependymoma with chromothripsis of chromosome 6: case report	32
17. Multi-consortia initiative to standardize the representation and curation of oncogenic fusions	31
49. Clinical validation of Infinium CytoSNP-850K SNP-Array for routine copy number profiling of hematological malignancies	27
26. An ATIC::ALK fusion created by balanced insertion rather than inversion of chromosome 2 in an ALK+ anaplastic large cell lymphoma	26
64. A rare finding of triple KRAS mutations with OmniSeq® INSIGHT in a patient with colorectal adenocarcinoma	24
43. Challenges of classifying variants associated with disorders of somatic mosaicism and guideline creation	18
2. Diagnostic next generation sequencing to detect MYD88 L265P in lymphoplasmacytic lymphoma compared to ddPCR	17
40. Prioritization of defining and supportive diagnostic variants in pediatric tumors	17
Detection of VHL variant on multigene panel testing for hereditary breast cancer: Implications for genetic counselling	16
Molecular determinants of clinical outcomes for anaplastic lymphoma kinase–positive non-small cell lung cancer in Chinese patients: A retrospective study	16
Exploring the role of transcription factor TWIST1 in bladder cancer progression	16
Upregulation of Uracil DNA Glycosylase (UNG) in Prostate Cancer	15
LncRNA FOXD2-AS1 promotes the growth, invasion and migration of OSCC cells by regulating the MiR-185–5p/PLOD1/Akt/mTOR pathway	14
The hsa-miR-516a-5p and hsa-miR-516b-5p microRNAs reduce the migration and invasion on T98G glioblastoma cell line	14
Distinct mechanisms of PTEN inactivation in dogs and humans highlight convergent molecular events that drive cell division in the pathogenesis of osteosarcoma	13
Comprehensive analysis of PLKs expression and prognosis in breast cancer	13
A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia	12
Identification of a novel stemness-related signature with appealing implications in discriminating the prognosis and therapy responses for prostate cancer	12
Three FGFR4 gene polymorphisms contribute to the susceptibility of urethral cancer in the middle and south of Iraq population	11
Corrigendum to “Ultra-sensitive detection of melanoma NRAS mutant ctDNA based on programmable endonucleases” [Cancer Genetics 294-295 (2025) 47–56]	10

28. Trisomy 21 silencing in hematopoietic and neural cells: New insights and prospects	9
13. Remember breakpoint two: Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements	9
31. Rare familial rearrangement with acrocentric satellite material on Yp relocating to Xp in a female fetus	9
6. Optical genome mapping as a potential Tier1 test for Postnatal Chromosomal Disorders – results of multi-institutional validation study of 331 retrospective clinical samples	9
61. Clinical whole exome/whole transcriptome analysis detects clinically relevant structural alterations in Multiple Myeloma	8
16. International working group recommendations for the implementation of optical genome mapping in Hematologic Malignancies	8
102. Using cytogenomics to distinguish two types of renal cell carcinoma in a composite or collision tumor	8
99. Histopathologic Correlation Somatic Variants in Non Small Cell Lung Cancer with High Tumor Mutation Burden	8
74. Genetic and functional characterization of complex chromosomal rearrangements in a family with multisystem anomalies	8
17. Deconvolution of genetic heterogeneity in Glioblastoma using multi-region sampling	8
8. Harnessing the power of microarray in the analysis of rarer pediatric sarcomas	8
104. A hematologic case with germline deletion of PMS2 and increased risk of HNPCC studied by optical genome mapping and NGS	8
129. Standardization of cancer terminology in the Mondo Disease Ontology	7
Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs)	7
36. Significant copy number variants and loss of heterozygosity in Wilms Tumor: Insights from Nationwide Pediatric Oncology	7
4. Comprehensive next generation cytogenomics improves risk stratification of acute myeloid leukemia	7
3. Application of optical genome mapping to identify samples with homologous recombination deficiency	7
56. Variants of established clinical significance: Progress and challenges in the VECS SC-VCEP	7
70. Acute myeloid leukemia with a novel AKAP9::PDGFRA fusion transformed from essential thrombocythemia	7
14. Concurrent systemic mastocytosis and T-lymphoblastic lymphoma unified by a novel cryptic JAKMIP2::PDGFRB rearrangement	7
15. Clinical impact of in-house molecular testing for underserved cancer patients in southern Alabama	7
Double heterozygous pathogenic variants in the BRCA1 and BRCA2 genes in a patient with bilateral metachronous breast cancer	7
22. Cell-free DNA genomic and epigenomic analysis to predict survival in mCRPC patients treated with AR-directed therapy	6
Study on the use of Nanostring nCounter to analyze RNA extracted from formalin-fixed-paraffin-embedded and fresh frozen bladder cancer tissues	6
A complex t(15;22;17)(q22;q11.2;q21) variant of APL	6
44. Clinical utility of pharmacogenomics testing with an expanded panel	6
53. Uveal melanoma - The New Zealand perspective	6
Mutation status in yes-associated protein 1 (YAP1) in an insulinoma cell line Rin-5F	6
Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature	6
14. Four-way translocation in a patient with mild clitoromegaly	6
50. Chromosomal microarray uncovers novel mechanisms of progression in myelodysplastic syndromes with normal karyotype	6
Ewing sarcoma of the rib with a rare PTEN mutation	6
Exosomal DNMT1 mRNA transcript is elevated in acute lymphoblastic leukemia which might reprograms leukemia progression	6
32. Clinical utility and feasibility of adopting optical genome mapping for chromosomal characterization of solid tumors	6
76. Goals, methods and challenges in a clinical validation of a NGS-based platform for the detection of constitutional CNVs	6
7. Overview of recurrent and novel gene fusions detected in a clinical diagnostic laboratory	5
Prognosis prediction and drug guidance of ovarian serous cystadenocarcinoma through mitochondria gene-based model	5
9. Best practices for testing and reporting of FISH studies in multiple myeloma: Recommendations from the CGC working group	5
79. Implications of fortuitous detection of JAK2 V617F mutations with solid tumor clinical sequencing	5
18. Cell-free DNA 5-hydroxymethylcytosine is an emerging marker of acute myeloid leukemia	5
60. AI-guided histopathology predicts brain metastasis in lung cancer patients	5
Corrigendum to “Omics approaches: Role in acute myeloid leukemia biomarker discovery and therapy” [Cancer Genetics, 2025, Volume: 292-293, Pages: 14-26/https://doi.org/10.1016/j.cancergen.2024.12.006]	5
139. Feasibility of comprehensive whole genome profiling in hematological malignancies	5
63. Comparative analysis of testing methods used for the detection of internal tandem duplications in the KMT2A/MLL gene	5
38. Formation of a tumor-specific gene list: The Central Nervous System (CNS) tumor taskforce experience	5
Is 5q deletion in de novo Acute Myelogenous Leukemia (AML) with excess blasts a surrogate marker for the cryptic t(7;21)(p22;q22)? A case report and review of literature	5
37. Epigenetic reprogramming of brain development pathways during non-small cell lung cancer metastasis to brain	5
Clinical management of TP53 mosaic variants found on germline genetic testing	4
16. Uniparental disomy (UPD) of multiple chromosomes in two cases with a complex phenotype	4
31. A cross-consortia initiative for aligning the definitions and descriptions of gene fusions	4

Cryptic KMT2A/MLLT10 fusion detected by next-generation sequencing in a case of pediatric acute megakaryoblastic leukemia	4
26. Co-occurrence of rosette-forming glioneuronal tumors with Noonan Syndrome	4
24. Tissue-based sequencing for laboratory diagnosis of Somatic Mosaic Disorders	4
2. Clinical, cytogenetic and genomic profiling of B-Other Acute Lymphoblastic Leukemia: An Indian cohort study	4
Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome	4
66. Optical genome mapping workflow for Somatic Abnormality detection in Multiple Solid Tumor types	4
120. Expert curation of FLT3 variants by the ClinGen FLT3 Somatic Cancer Variant Curation expert panel	4
4. Glioblastomas with MAPK pathway alterations show low grade histologic features and present novel therapeutic targets	3
Editorial Board	3
45. Clonal hematopoiesis in childhood cancer survivors	3
94. Initial efforts of the ClinGen Solid Tumor Taskforce in promoting variant curation in solid tumors into CIViC	3
127. Characterization of alternative transcription start and termination sites in glioblastoma	3
56. Optical genome mapping reveals genomic complexity and detects novel genetic abnormalities in T-Lymphoblastic Leukemia	3
Rare and potentially fatal ‐ Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children	3
Identification of BRIP1, NSMCE2, ANAPC7, RAD18 and TTL from chromosome segregation gene set associated with hepatocellular carcinoma	3
57. A rare case of near-tetraploidy in CLL: An investigation by MLPA, FISH, and chromosome analysis	3
Lynch syndrome caused by a novel deletion of the promoter and exons 1–13 of MLH1 gene	3
65. Insights into the genetic heterogeneity of glioblastoma: gene amplification in ecDNA and HSR	3
Editorial Board	3
TERT gene rearrangement in chordomas and comparison to other TERT-rearranged solid tumors	3
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients	3
A rare case of atypical chronic myeloid leukemia associated with t(8;22)(p11.2;q11.2)/ BCR-FGFR1 rearrangement: A case report and literature review	3
Myeloid/Lymphoid Neoplasm with FGFR1 Rearrangement Presenting with Polycythemia Vera and T-cell Acute Lymphoblastic Leukemia.	3
30. Semi-automated approaches for digital pathology analyses standardize pathologic assessment of clinical melanoma biopsies	3
77. Mining COSMIC for frameshift neoantigens as `off-the-shelf' therapeutic cancer vaccine candidates	3
Editorial Board	3
77. dic(7;9):A distinct entity in B-ALL with multiple genomic aberrations including IKAROS and PAX5	3
Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2)	3
Unraveling Complex Karyotype Clonal Architecture: Co-existing Double TP53 Mutations Alongside DNMT3A, TET2, and NF1 Mutations – A Case Study	2
24. Donor-derived acute myeloid leukemia in a recipient of liver-transplantation	2
7. Optical genome mapping for prenatal diagnostic testing	2
20. Diagnostic utility and lessons learned from deep sequencing vascular malformations	2
Mast cell leukemia with novel BRAF variant and concomitant atypical KIT variant	2
HRD status variation in consecutive tumour biopsies in a pan-cancer cohort: a descriptive single-center study including patients from the Phase 1 Unit, Copenhagen University Hospital, Rigshospitalet	2
Aggressive systemic mastocytosis with the co-occurrence of PRKG2::PDGFRB, KAT6A::NCOA2, and RXRA::NOTCH1 fusion transcripts and a heterozygous RUNX1 frameshift mutation	2
Composite mantle cell lymphoma with cryptic ins(11;2)(q13;p11.2p11.2)/IGK::CCND1 and lymphoplasmacytic lymphoma with MYD88 L265P mutation	2
24. Clinical utility of optical genome mapping: comparison with standard cytogenomics work-up for hematological malignancies	2
9. The dual PI3K inhibitor duvelisib potently inhibits cytokine release syndrome while maintaining CAR-T function	2
22. Reducing diagnostic FISH turn-around-time: A rapid pipeline for BCR::ABL1 and PML::RARA suspected leukemias	2
18. Trisomy 18p detected in DNA from saliva but absent in DNA from blood	2
A comparison of WHO-5 and ICC classifications in a series of myeloid neoplasms, considerations for hematopathologists and molecular pathologists	2
The oncogenic roles of NTRK fusions and methods of molecular diagnosis	2
75. Clinical implementation of a precision medicine consultation service	2
ADAR1 gene expression and its importance in breast cancer	2
Mechanistic study of Liquiritigenin inhibiting bladder cancer cell proliferation and migration by regulating STING1	2
7. AI-Based Algorithms for neoplastic metaphase cells boost efficiencies in the cytogenetics laboratory	2
In silico protein structural analysis of PRMT5 and RUVBL1 mutations arising in human cancers	2
98. A bioinformatics analysis of differentially expressed genes in non-small cell lung cancer subtypes	2
93. Surveying the genomic landscape of Mantle Cell Lymphoma	2
Hypomethylation of DRD2 promotes breast cancer through the FLNA-ERK pathway	2
12. The landscape of structural variation discovery and interpretation across global populations and the developmental continuum	2
78. Next generation cytogenomics improves patient risk stratification in acute myeloid leukemia	2
134. Novel fusions in aggressive infant sarcomas: Expanding the scope of 'CIC-rearranged' sarcoma without CIC rearrangement	2
Mesothelin CAR‐T cells secreting PD‐L1 blocking scFv for pancreatic cancer treatment	2
34. A molecular and clinicopathologic analysis of primary intracranial sarcomas	2
Biological landscape of human papilloma virus-related head and neck cancer according to virus genotype	2
Metabolic–related gene signatures for survival prediction and immune cell subtypes associated with prognosis in intrahepatic cholangiocarcinoma	2
28. Analytical validation of an optical genome mapping assay for structural variant detection in hematologic malignancies	2
21. Translating human readable variation descriptions to unique computable variations with the Variation Normalizer	2
62. Characterization of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) with KMT2A amplification	1
Influence of IL-38 as a novel biomarker on the pathophysiological processes of esophageal cancer	1
The prognostic, diagnostic, and therapeutic impact of Long noncoding RNAs in gastric cancer	1
Prognostic significance of CCND1 amplification/overexpression in smoking patients with esophageal squamous cell carcinoma	1
Evaluation of DNA methylation in promoter regions of hTERT, TWIST1, VIM and NID2 genes in Moroccan bladder cancer patients	1
The mechanism of lncRNA SSTR5-AS1 promoting ferroptosis resistance and immune escape in ovarian cancer cells by recruiting STAT3 to regulate SLC7A11 expression	1
91. Atypical BCR::ABL1 rearrangements identified by optical genome mapping in patients with chronic myeloid leukemia	1
The role of miR-10b-5p in prostate cancer and its exosome-mediated angiogenesis effect	1
90. TERT promoter mutation detection by ddPCR in glial atypia	1
53. Clinical whole exome/whole transcriptome (WES/WTS) analysis detects copy number and structural rearrangements important	1
Dynamics of cell-free DNA in predicting response in adult diffuse glioma on chemoradiotherapy	1
82. Can mitochondrial DNA mutations be used as a biomarker for endometrial cancer?	1
38. Assessment of TRG and TRB clonality by NGS of dermatologic specimens is impacted by biopsy type, DNA and amplicon sizes	1
79. Extraction of multiple analytes in liquid biopsy may improve the diagnosis of breast cancer	1
42. MDM2 and centromere 12 co-amplification presents diagnostic challenge in low grade adipocytic tumors	1
8. Optical genome mapping analysis of FMR1 expansions in fragile X syndrome	1
48. Targeted RNA-Seq on fresh frozen and methanol/acetic acid fixed cells in diagnostic workup of hematologic malignancies	1
43. Fusion Curation Interface: an educational tool to explore a unified framework for representing & curating gene fusions	1
59. Constellation of rare genetic abnormalities associated with MECOM rearrangement in AML	1
83. Cytogenetic and molecular characterization of IDH-mutant adult-type diffuse gliomas with near-total 1p/19q co-deletions	1
Half of most frequently mutated genes in breast cancer are expressed differentially between premenopausal and postmenopausal breast cancer patients	1

94. Comparison of FISH to whole exome/whole transcriptome detection of relevant structural alterations in Multiple Myeloma	1
24. Methylation sequencing enhances interpretation of clonal hematopoiesis dynamics	1
38. Oncogenic evidence in the CIViC data model	1
Mutations of ARID1B, PIK3C2B, KMT2B, and FAT1 genes influence clinical outcome in newly diagnosed myeloma	1
12. Contextualizing clinical significance using FDA label supplemented DGI data	1
41. Step 2 updates for the oncogenic assessment of FLT3 variants by the ClinGen FLT3 somatic cancer variant curation expert	1
Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar	1
Potential use of SCAT1, SCAT2, and SCAT8 as diagnostic and prognosis markers in colorectal cancer	1
When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives	1
Molecular profiling of osteosarcoma in children and adolescents from different age groups using a next-generation sequencing panel	1
107. MyVariant.info: a gateway to integrated resource of variant annotations	1
130. The Myeloid Malignancy Variant Curation Expert Panel: Investigating RUNX1, GATA2, and DDX41	1
SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET1	1
43. Association between Clonal Hematopoiesis and Inherited Cancer Susceptibility Genes	1
41. Participant reflections from the program for evaluation of Ashkenazi Jewish Cancer heritability involving the BRCA genes	1
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients	1
46. Integrative cytogenetic and molecular studies unmasks `chromosomal mimicry' in hematologic malignancies	1
89. TCF3::ZNF384 in a Peruvian girl with mixed-phenotype acute leukemia and poor treatment outcome	1
11. Evaluation of Hi-C versus optical genome mapping for diagnosing constitutional genomic structural variants	1
65. Creating a common language for categorical variants	1
100. Ultrasensitive molecular residue disease detection enabled by genome wide concatemer error correction	1
63. A female-specific chimeric RNA with differential expression in COVID patients	1
36. Clinical utility of copy number alteration analysis in the evaluation of Melanocytic Lesions for diagnosis and prognosis	1
Dysregulation of metallothionein MT1 sub-types in TCF3::PBX1 pre-B-cell acute lymphoblastic leukemia	1
4. Current applications of cell-free DNA in pregnancy and oncology	1
68. Orthogonal approaches to validate a knowledgebase of interpretations of clinically relevant somatic cancer variants	1
6. Emerging clinically-relevant applications of ultra-sensitive mutation detection	1
83. Quantum lattices for early cancer detection through machine learning	1
1. Enrichment of Hodgkin and Reed-Sternberg (HRS) cells using size-based microfiltration	1
Prelims	1
Multi-region sequencing reveals genetic correlation between esophageal squamous cell carcinoma and matched cell-free DNA	1
9. Optical genome mapping workflow for identification and annotation of variants in hematological malignancy	1
The promise of TRK inhibitors in pediatric cancers with NTRK fusions	1
81. Discrepancies in the detection of PML::RARA gene rearrangement by FISH using commonly used dual-color dual-fusion probes	1
138. Optical Genome Mapping workflow for identification and analysis of variants in Hematological Malignancies	1
20. Comparative analysis of RNA expression identifies druggable targets in difficult-to-treat pediatric solid tumors	1
103. Formation of a ClinGen Variant Curation Expert Panel (VCEP) dedicated to Oncohistone H3 Variants in Pediatric Gliomas	1
TRIM29 promotes glioblastoma progression via ubiquitinating NEFL and activating the PI3K/AKT signaling pathway	1
Regulator of G-protein signaling 14 (RGS14) promotes cancer growth in hepatocellular carcinoma	1
PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas	1
55. Clinical validation and implementation of exome, transcriptome and whole genome sequencing for pediatric cancers	1
16. ClinGen Cancer Variant Interpretation (CVI) Committee: Pilot guidance for somatic cancer variant curation expert panels	1
24. Archer system copy number alteration caller: User experience	1
66. Screening for genetic predisposition to pediatric leukemia in a Peruvian population	1
85. Microfilter enrichment of Hodgkin and Reed-Sternberg (HRS) cells	1
50. Molecular profiling of Cytolyt-Fixed FNA washes to improve diagnostic yield in lung cancer	1
74. Dilemma of selecting the optimal diagnostic test(s) for genetic biomarkers in hematologic malignancies	1
128. Clinical testing of mismatch repair in neoplasms using multiple laboratory methods	1
Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia	1