Cancer Genetics

Papers
(The median citation count of Cancer Genetics is 0. 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.)
ArticleCitations
DNA damaging agents and DNA repair: From carcinogenesis to cancer therapy29
TRK inhibitor activity and resistance in TRK fusion-positive cancers in adults20
Comprehensive analysis of PLKs expression and prognosis in breast cancer18
Promoter hypermethylation regulates vitamin D receptor (VDR) expression in colorectal cancer-A study from Kashmir valley18
Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2)15
A melanoma patient with macrophage-cancer cell hybrids in the primary tumor, a lymph node metastasis and a brain metastasis15
Pan-cancer genetic analysis of disulfidptosis-related gene set14
Expression and potential immune involvement of cuproptosis in kidney renal clear cell carcinoma14
The spectrum of tumors harboring BAP1 gene alterations12
The promise of TRK inhibitors in pediatric cancers with NTRK fusions12
Tumor-intrinsic FABP5 is a novel driver for colon cancer cell growth via the HIF-1 signaling pathway12
NTRK-Rearranged soft tissue neoplasms: A review of evolving diagnostic entities and algorithmic detection methods11
Lynch syndrome: further defining the pediatric spectrum11
Invasive ACTH-producing pituitary gland neoplasm secondary to MSH2 mutation11
Integrative analysis of DNA methylation and gene expression profiles to identify biomarkers of glioblastoma10
Classification of fluorescent R-Band metaphase chromosomes using a convolutional neural network is precise and fast in generating karyograms of hematologic neoplastic cells10
The clinical aspect of NTRK-fusions in pediatric papillary thyroid cancer10
Diagnostic testing approaches for the identification of patients with TRK fusion cancer prior to enrollment in clinical trials investigating larotrectinib9
MUC16 mutation is associated with tumor grade, clinical features, and prognosis in glioma patients9
A DNA methylation panel for high performance detection of colorectal cancer8
A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies8
Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma8
Late recurrence of lung adenocarcinoma harboring EGFR exon 20 insertion (A763_Y764insFQEA) mutation successfully treated with osimertinib8
Genetic heterogeneity and predictive biomarker for pulmonary sarcomatoid carcinomas7
Whole-exome sequencing in osteosarcoma with distinct prognosis reveals disparate genetic heterogeneity7
Exosomal DNMT1 mRNA transcript is elevated in acute lymphoblastic leukemia which might reprograms leukemia progression7
Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology7
EML4-ALK fusion variant.3 and co-occurrent PIK3CA E542K mutation exhibiting primary resistance to three generations of ALK inhibitors7
Pan-tumor screening for NTRK gene fusions using pan-TRK immunohistochemistry and RNA NGS fusion panel testing7
Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome6
Germline mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors6
Microarray-based analysis of the BRAF V600 mutations in circulating tumor DNA in melanoma patients6
NTRK point mutations and their functional consequences6
Cancer risk among RECQL4 heterozygotes6
Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions6
Evolution of germline TP53 variant classification in children with cancer6
The oncogenic roles of NTRK fusions and methods of molecular diagnosis6
Association between XRCC3 Thr241Met polymorphism and risk of gynecological malignancies: A meta-analysis6
Content of circulating tumor DNA depends on the tumor type and the dynamics of tumor size, but is not influenced significantly by physical exercise, time of the day or recent meal5
Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers5
Evaluation of DNA methylation in promoter regions of hTERT, TWIST1, VIM and NID2 genes in Moroccan bladder cancer patients5
Distinct mechanisms of PTEN inactivation in dogs and humans highlight convergent molecular events that drive cell division in the pathogenesis of osteosarcoma5
Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma5
A 10-gene-methylation-based signature for prognosis prediction of colorectal cancer5
Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study5
Enhancement of MDM2 inhibitory effects through blocking nuclear export mechanisms in ovarian cancer cells5
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients5
Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3’UTR of the MSH6 gene5
Consensus molecular subtyping of colorectal cancers is influenced by goblet cell content5
Multi-omics inference of differential breast cancer-related transcriptional regulatory network gene hubs between young Black and White patients5
Over‐expression of USP15/MMP3 predict poor prognosis and promote growth, migration in non-small cell lung cancer cells5
Genetic variants as biomarkers for progression and resistance in multiple myeloma5
Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants5
Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey5
Dynamics of cell-free DNA in predicting response in adult diffuse glioma on chemoradiotherapy5
Identification and prevalence of potentially therapeutic targetable variants of major cancer driver genes in ampullary cancer patients in India through deep sequencing4
Enumeration, characterisation and clinicopathological significance of circulating tumour cells in patients with colorectal carcinoma4
Ataxia telangiectasia mutated germline pathogenic variant in adrenocortical carcinoma4
A new four-way complex translocation variant involving the t(8;5;21;4)(q21;q13;q22;q31) and the relocalization of AML1/ETO fusion gene4
Mesothelin CAR‐T cells secreting PD‐L1 blocking scFv for pancreatic cancer treatment4
t(5;12)(q31;p13)/ETV6::ACSL6 and t(6;9)(p23;q34)/DEK::NUP214 concurrence in acute myeloid leukemia: an unusual association of two rare abnormalities4
Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs)4
The prognostic significance of FOXC2 gene expression in cancer: A comprehensive analysis of RNA-seq data from the cancer genome atlas4
BCR-ABL1 positive AML or CML in blast crisis? A pediatric case report with inv(3) and t(9;22) in the initial clone4
Hereditary inflammatory fibroid polyps caused by germline pathogenic variants in PDGFRA: Refining PDGFRA-mutation syndrome4
Molecular follow-up of first-line treatment by osimertinib in lung cancer: Importance of using appropriate tools for detecting EGFR resistance mutation C797S4
Cancer treatments: Past, present, and future4
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients3
Neurotrophic tyrosine receptor kinase fusion in pediatric central nervous system tumors3
Identification of a novel resistance ALK p.(Q1188_L1190del) deletion in a patient with ALK-rearranged non–small-cell lung cancer3
Novel high–risk acute myeloid leukemia subgroup with ERG amplification and Biallelic loss of TP533
The role of P62 in the development of human thyroid cancer and its possible mechanism3
Homologous recombination deficiency prediction using low-pass whole genome sequencing in breast cancer3
NTRK-fusions in pediatric thyroid tumors: Current state and future perspectives3
Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature3
Determination of the key ccRCC-related molecules from monolayer network to three-layer network3
TCGA dataset screening for genes implicated in endometrial cancer using RNA-seq profiling3
Functional analysis of ATM variants in a high risk cohort provides insight into missing heritability3
Rare and potentially fatal ‐ Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children3
Discovery of BRCA1/BRCA2 founder variants by haplotype analysis3
Expression of a novel type of KMT2A/EPS15 fusion transcript in FLT3 mutation-positive B-lymphoblastic leukemia with t(1;11)(p32;q23)3
Identification of a novel stemness-related signature with appealing implications in discriminating the prognosis and therapy responses for prostate cancer3
Molecular profiling of osteosarcoma in children and adolescents from different age groups using a next-generation sequencing panel3
Somatic tumor testing implications for Lynch syndrome germline genetic testing3
Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours3
Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies3
The prognostic, diagnostic, and therapeutic impact of Long noncoding RNAs in gastric cancer3
A novel, germline, deactivating CBL variant p.L493F alters domain orientation and is associated with multiple childhood cancers3
Somatic mutation variant analysis in rural, resectable non‐small cell lung carcinoma patients3
Rare monosomy 7 and deletion 7p at diagnosis of chronic myeloid leukemia in accelerated phase3
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion–deletion variant located in a region of complex genomic architecture3
Study on the use of Nanostring nCounter to analyze RNA extracted from formalin-fixed-paraffin-embedded and fresh frozen bladder cancer tissues3
How to structure an oncogenetics service for the public health system: Report of the implementation of the first service in Northeastern Brazil3
Clinical impact of 5ʹMYC or 3ʹMYC gain/loss detected by FISH in patients with aggressive B-cell lymphomas3
Synchronous driver gene alterations (EGFR L858R, T790M, and ROS1) rearrangements in a patient with early-stage lung adenocarcinoma2
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 review2
Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect2
Effects of concurrent TP53 mutations on the efficacy and prognosis of targeted therapy for advanced EGFR mutant lung adenocarcinoma2
Molecular subtyping and immune score system by a novel pyroptosis-based gene signature precisely predict immune infiltrating, survival and response to immune-checkpoint blockade in breast cancer2
Ossifying low grade endometrial stromal sarcoma with PHF1-BRD8 fusion2
Double heterozygous pathogenic variants in the BRCA1 and BRCA2 genes in a patient with bilateral metachronous breast cancer2
Novel MET exon 14 skipping analogs characterized in non-small cell lung cancer patients: A case study2
The hsa-miR-516a-5p and hsa-miR-516b-5p microRNAs reduce the migration and invasion on T98G glioblastoma cell line2
Novel genomic signature predictive of response to immune checkpoint blockade: A pan-cancer analysis from project Genomics Evidence Neo-plasia Information Exchange (GENIE)2
A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma2
Copy number alterations identify a smoking-associated expression signature predictive of poor outcome in head and neck squamous cell carcinoma2
Interpretative differences of combined cytogenetic and molecular profiling highlights differences between MRC and ELN classifications of AML2
Gene expression-based immune infiltration analyses of liver cancer and their associations with survival outcomes2
Impact of a haplotype (composed of the APC, KRAS, and TP53 genes) on colorectal adenocarcinoma differentiation and patient prognosis2
Newly designed breakapart FISH probe helps to identify cases with true MECOM rearrangement in myeloid malignancies2
A literature review and database of how the primary KIT/PDGFRA variant of a gastrointestinal stromal tumour predicts for sensitivity to imatinib2
Clinical management of TP53 mosaic variants found on germline genetic testing2
Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome2
Longitudinal change of genetic variations in cetuximab-treated metastatic colorectal cancer2
Synergetic effect of Azacitidine and Sorafenib in treatment of a case of myeloid neoplasm with sole chromosomal abnormality t(8;22)(p11.2;q11.2)/BCR-FGFR1 rearrangement2
Somatic tumor mutations in moderate risk cancer genes: Targets for germline confirmatory testing2
Case report of a man with multiple paragangliomas and pathogenic germline variants in both NF1 and SDHD2
Association of the KRAS genotype and clinicopathologic findings of resected non‐small‐cell lung cancer: A pooled analysis of 179 patients2
Molecular determinants of clinical outcomes for anaplastic lymphoma kinase–positive non-small cell lung cancer in Chinese patients: A retrospective study2
Evidence-based review of genomic aberrations in diffuse large B cell lymphoma, not otherwise specified (DLBCL, NOS): Report from the cancer genomics consortium lymphoma working group2
PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas2
Epithelial-mesenchymal transition-related gene prognostic index and phenotyping clusters for hepatocellular carcinoma patients2
Somatic NF1 mutations in pituitary adenomas: Report of two cases2
Prognostic impact of molecular profiles and molecular signatures in clear cell ovarian cancer2
Identification of variant APL translocations PRKAR1A-RARα and ZBTB16-RARα (PLZF-RARα) through the MI-ONCOSEQ platform2
Therapy-related acute myeloid leukemia with KMT2A-SNX9 gene fusion associated with a hyperdiploid karyotype after hemophagocytic lymphohistiocytosis2
A novel missense mutation in the folliculin gene associated with the renal tumor-only phenotype of Birt-Hogg-Dubé syndrome2
Vulvar Melanoma in association with germline MITF p.E318K variant2
Evaluation of chromosome 1p/19q deletion by Fluorescence in Situ Hybridization (FISH) as prognostic factors in malignant glioma patients on treatment with alkylating chemotherapy2
Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis2
A novel case of intrachromosomal amplification and insertion of RUNX1 on derivative chromosome 2 in pediatric AML2
Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia2
Mitochondrial DNA polymorphisms and biogenesis genes in primary and metastatic uveal melanoma cell lines2
LncRNA FOXD2-AS1 promotes the growth, invasion and migration of OSCC cells by regulating the MiR-185–5p/PLOD1/Akt/mTOR pathway2
Utilizing next-generation sequencing to characterize a case of acute myeloid leukemia with t(4;12)(q12;p13) in the absence of ETV6/CHIC2 and ETV6/PDGFRA gene fusions2
RNA-Based next generation sequencing complements but does not replace fluorescence in situ hybridization studies for the classification of aggressive B-Cell lymphomas1
Concomitance of a novel RMDN2-ALK fusion and an EML4-ALK fusion in a lung adenocarcinoma1
Comprehensive FISH testing using FFPE tissue microarray of primary lymph node tissue identifies secondary cytogenetic abnormalities in Mantle Cell Lymphoma1
A founder CHEK2 pathogenic variant in association with kidney cancer1
Mast cell leukemia with novel BRAF variant and concomitant atypical KIT variant1
KMT2A-CBL fusion in rapidly progressive myeloid disorder1
Clinical utility of chromosomal microarray in establishing clonality and high risk features in patients with Richter transformation1
14. Prenatal diagnosis of Acrofacial Dysostosis type 1 (Nager syndrome) by chromosomal microarray at the exon level1
Construction of a genomic instability-derived predictive prognostic signature for non-small cell lung cancer patients1
A novel germline frameshift mutation in the MLH1 gene in a patient with Lynch syndrome1
Selection for or against escape from nonsense mediated decay is a novel signature for the detection of cancer genes1
Development of a molecular barcode detection system for pancreaticobiliary malignancies and comparison with next-generation sequencing1
Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family1
Study on the use of Nanostring nCounter to analyze RNA extracted from formalin-fixed-paraffin-embedded and fresh frozen bladder cancer tissues [Cancer Genetics 268-269 (2022) 137-143]1
Sensitivity to dabrafenib and trametinib treatments in patients with non-small-cell cancer harboring BRAF compound mutations: A pooled analysis of BRAF p.V600E-positive advanced non-small-cell lung ca1
A novel heptasomy 21 associated with complete loss of heterozygosity and loss of function RUNX1 mutation in acute myeloid leukemia1
Identification of BRIP1, NSMCE2, ANAPC7, RAD18 and TTL from chromosome segregation gene set associated with hepatocellular carcinoma1
Prognostic significance of CCND1 amplification/overexpression in smoking patients with esophageal squamous cell carcinoma1
Rapid FISH results within one hour1
SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET11
80. Identification of a post-platinum NBN reversion in a pancreatic cancer patient with a co-occurring NTRK1 fusion1
79. Extraction of multiple analytes in liquid biopsy may improve the diagnosis of breast cancer1
22. Characterization of atypical iAMP21 observed in B-Lymphoblastic Leukemia (B-ALL): A retrospective study from Mayo Clinic1
43. Association between Clonal Hematopoiesis and Inherited Cancer Susceptibility Genes1
75. Clinical implementation of a precision medicine consultation service1
88. Significant association of BRCA1, BRCA2 and TP53 gene polymorphisms with breast cancer risk in Khyber Pakhtunkhwa, Pakistan1
Philadelphia chromosome- positive myelodysplastic syndrome with single lineage dysplasia1
Upregulation of shelterin and CST genes and longer telomeres are associated with unfavorable prognostic characteristics in prostate cancer1
Complex karyotype with double Philadelphia chromosome and T315I mutation results in blastic phase and extensive extramedullary infiltration in a chronic myeloid leukemia patient1
When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives1
A prognostic gene signature for predicting survival outcome in diffuse large B-cell lymphoma1
Implementation of cytogenomic microarray with plasma cell enrichment enables better abnormality detection and risk stratification in patients with plasma cell neoplasia than conventional cytogenetics 1
Half of most frequently mutated genes in breast cancer are expressed differentially between premenopausal and postmenopausal breast cancer patients1
A pediatric BAL case with double Ph chromosomes and trisomy 51
Chimeric transcripts observed in non-canonical FGFR2 fusions with partner genes' breakpoint located in intergenic region in intrahepatic cholangiocarcinoma1
64. FAIR sharing of cancer GWAS data via the NHGRI-EBI GWAS catalog1
Unfolded protein response signature unveils novel insights into breast cancer prognosis and tumor microenvironment1
Paroxysmal nocturnal hemoglobinuria and myelodysplastic syndrome: Disappearance of cytogenetic abnormalities1
Unexpected appearance of KMT2A::MLLT10 fusion transcript in acute myeloid leukemia with t(5;11)(q31;q23.3)1
Influence of germline test results on surgical decision making in women with invasive breast cancer1
Somatic homozygous loss of SH2B3, and a non-Robertsonian translocation t(15;21)(q25.3;q22.1) with NTRK3 rearrangement, in an adolescent with progenitor B-cell acute lymphoblastic leukemia with the iAM1
t(10;12)(q24;q15): A new cytogenetic marker in hematological malignancies1
Malignant peripheral nerve sheath tumor on a patient with a maternally inherited novel NF1 gene pathogenic germline variant: Case report1
72. Comprehensive genomic profiling in the diagnosis of Central Nervous System tumors1
Extracellular genetic materials and their application in clinical practice1
A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-11
Multi-region sequencing reveals genetic correlation between esophageal squamous cell carcinoma and matched cell-free DNA1
Metabolic–related gene signatures for survival prediction and immune cell subtypes associated with prognosis in intrahepatic cholangiocarcinoma1
Evaluation of anti-angiogenic agent F16 for targeting glioblastoma xenograft tumors1
A t(4;13)(q21;q14) translocation in B-cell chronic lymphocytic leukemia causing concomitant homozygous DLEU2/miR15a/miR16-1 and heterozygous ARHGAP24 deletions1
Acute myeloid leukemia with t(X;6)9p11;q23);MYB-GATA1 and female sex: GATA1 insufficiency may be insufficient for pathogenesis1
33. Variability in sex and phenotype: Impact of a familial pathogenic DHX37 variant leading to 46,XY gonadal dysgenesis1
FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome1
CircMYBL1 suppressed acquired resistance to osimertinib in non-small-cell lung cancer1
121. Single cell TCR sequencing identifies an enriched V(D)J repertoire in canine melanoma1
DNA repair and immune checkpoint blockade response1
A variant e13a3 BCR-ABL1 fusion transcript in refractory adult B-cell acute lymphoblastic leukemia achieving complete remission with CAR-Tcell therapy1
Corrigendum to “Identification of a novel stemness-related signature with appealing implications in discriminating the prognosis and therapy responses for prostate cancer” [Cancer Genetics Volumes 2761
45. Deconstruction of pancreatic ductal adenocarcinoma identifies survival-associated tumor microenvironmental communities1
Cryptic KMT2A/MLLT10 fusion detected by next-generation sequencing in a case of pediatric acute megakaryoblastic leukemia1
Patient with multiple genetically distinct thyroid nodules including papillary thyroid carcinoma harboring novel YWHAG-BRAF fusion1
Differences in the mitochondrial microsatellite instability of Keratoacanthoma and cutaneous squamous cell carcinoma1
7. Adoption of optical genome mapping in clinical cancer cytogenetic laboratory: A stepwise approach1
High incidence of PI3K pathway gene mutations in South Indian cervical cancers1
t(2;2;21;8)(p21;q37;q22;q22), a novel four-way complex translocation involving variant t(8;21) in case of acute myeloid leukemia : A case report and literature review1
A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia1
43. Challenges of classifying variants associated with disorders of somatic mosaicism and guideline creation0
30. Characterization of atypical iAMP21 observed in B-Lymphoblastic Leukemia (B-ALL): a 2.5-year retrospective study from the Mayo Clinic0
21. A case of acute myeloid leukemia with gain of two copies of neocentromeric chromosome 110
24. Methylation sequencing enhances interpretation of clonal hematopoiesis dynamics0
48. Crowdsourcing expert curation of somatic variants by the ClinGen Somatic Hematologic Cancer Taskforce0
34. A molecular and clinicopathologic analysis of primary intracranial sarcomas0
20. Diagnostic utility and lessons learned from deep sequencing vascular malformations0
68. Integrative analysis of genomic and transcriptomic data using RegTools to identify splice-altering mutations within bulk0
51. Discerning cell types and states in spatial transcriptomics data using topic modelling0
1. Microdeletion 13q12.2 in B cell acute lymphoblastic leukemia: Little but important!0
4. ETV6-ABL1 variant rearrangement described in a childhood ALL patient0
74. Dilemma of selecting the optimal diagnostic test(s) for genetic biomarkers in hematologic malignancies0
Editorial Board0
76. Automating immunogenomic tumor board decision-making for neoantigen cancer vaccine design0
123. Chromosomal microarray assists interpretation of cytogenetic abnormalities in hematopoietic malignancies0
42. Piloting NTRK fusion-specific oncogenicity guidelines: Lessons learned0
38. A rare constitutional 13q deletion associated with retinoblastoma and chronic lymphocytic leukemia0
25. Enhancing precision oncology: The value of open-source knowledgebase integration0
23. Incidental findings on XON array: Our experience over the last two years0
51. PS4 utilization for PIK3CA variants implicated in disorders of somatic mosaicism0
49. Clinical validation of Infinium CytoSNP-850K SNP-Array for routine copy number profiling of hematological malignancies0
29. Launching a CGC initiative to support trainees and early career members: Survey results and analysis0
17. Multi-consortia initiative to standardize the representation and curation of oncogenic fusions0
60. Panning for neoantigens to demonstrate feasibility of neoantigen vaccines in canine melanoma0
9. Implementation survey of the ACMG/CGC standards for interpretation of acquired CNAs and CN-LOH in neoplastic disorders0
34. Discovery of circular RNAs through integration of short- and long-read RNA sequencing0
Editorial Board0
High frequency of BCL2 gene rearrangement-negative follicular lymphoma in northwestern Italy0
64. A rare finding of triple KRAS mutations with OmniSeq® INSIGHT in a patient with colorectal adenocarcinoma0
135. Tumor deconvolution using comprehensive single-cell RNA sequencing cell type signatures0
11. Developing a robust bioinformatics workflow to support personalized neoantigen vaccine clinical trials0
44. Reevaluation of copy number variant (CNV) classifications in the clinical laboratory setting: challenges, insights, and experiences with a laboratory-initiated process0
23. Detection of somatic tumor mutations in circulating plasma DNA of patients with sellar and skull base tumors0
35. Frequencies of Turner syndrome abnormalities as detected by high resolution chromosomal microarray in products of conception and postnatal blood samples0
22. Masked hypodiploid B-Cell Lymphoblastic Leukemia (B-ALL) characterized by SNP microarray in a Li Fraumeni syndrome patient with post therapy karyotype changes0
40. Prioritization of defining and supportive diagnostic variants in pediatric tumors0
52. Optical genome mapping and SNP microarray: integrated workflow for optimizing analysis of products of conception0
43. Adapting CIViC, a cancer variant interpretation knowledgebase, to support variants in disorders of somatic mosaicism0
28. Identification of TP53 germline variants in pediatric patients undergoing tumor testing0
67. Long noncoding RNAs encoding peptides in cancer0
58. Improving the molecular diagnosis of SBDS-related disorders by identifying rare gene conversion events.0
28. Detection of small mutations, copy number alterations and structural variations from targeted cfDNA sequencing in cancer0
Acute myeloid leukemia with LRRFIP1::FGFR1 rearrangement and a complex karyotype0
Rare and favorable prognosis of pediatric acute lymphoblastic leukemia with TLS-ERG fusion gene: Case report with long-term follow-up and review of literature0
Editorial Board0
69. Expert consensus standardization of FGFR3 SNV oncogenicity classification and interpretation0
134. Novel fusions in aggressive infant sarcomas: Expanding the scope of 'CIC-rearranged' sarcoma without CIC rearrangement0
2. Diagnostic next generation sequencing to detect MYD88 L265P in lymphoplasmacytic lymphoma compared to ddPCR0
43. Structural changes characterized by whole genome mate-pair sequencing in a case with ETV6/ABL1 gene fusion and atypical Chronic Myeloid Leukemia0
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