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 2020-03-01 to 2024-03-01.)
ArticleCitations
Potential role of microRNAs in the treatment and diagnosis of cervical cancer47
The combination of WGS and RNA-Seq is superior to conventional diagnostic tests in multiple myeloma: Ready for prime time?31
Identification of gene modules and hub genes in colon adenocarcinoma associated with pathological stage based on WGCNA analysis29
DNA damaging agents and DNA repair: From carcinogenesis to cancer therapy27
Comparison of four next generation sequencing platforms for fusion detection: Oncomine by ThermoFisher, AmpliSeq by illumina, FusionPlex by ArcherDX, and QIAseq by QIAGEN21
MicroRNAs in breast cancer: New maestros defining the melody18
Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing18
Promoter hypermethylation regulates vitamin D receptor (VDR) expression in colorectal cancer-A study from Kashmir valley17
TRK inhibitor activity and resistance in TRK fusion-positive cancers in adults16
A melanoma patient with macrophage-cancer cell hybrids in the primary tumor, a lymph node metastasis and a brain metastasis14
Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia14
Alcohol consumption and risk of breast and ovarian cancer: A Mendelian randomization study13
Assessing Genomic Copy Number Alterations as Best Practice for Renal Cell Neoplasia: An Evidence-Based Review from the Cancer Genomics Consortium Workgroup12
The spectrum of tumors harboring BAP1 gene alterations11
High methylation levels of histone H3 lysine 9 associated with activation of hypoxia-inducible factor 1α (HIF-1α) predict patients’ worse prognosis in human hepatocellular carcinomas11
Integrative analysis of DNA methylation and gene expression profiles to identify biomarkers of glioblastoma10
Tumor-intrinsic FABP5 is a novel driver for colon cancer cell growth via the HIF-1 signaling pathway10
Lynch syndrome: further defining the pediatric spectrum9
The promise of TRK inhibitors in pediatric cancers with NTRK fusions9
NTRK-Rearranged soft tissue neoplasms: A review of evolving diagnostic entities and algorithmic detection methods9
Intrahepatic cholangiocarcinoma development in a patient with a novel BAP1 germline mutation and low exposure to asbestos9
Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing8
Late recurrence of lung adenocarcinoma harboring EGFR exon 20 insertion (A763_Y764insFQEA) mutation successfully treated with osimertinib8
Comprehensive network analysis of the molecular mechanisms associated with sorafenib resistance in hepatocellular carcinoma8
Double mutation of APC and BRCA1 in an Italian family8
Classification of fluorescent R-Band metaphase chromosomes using a convolutional neural network is precise and fast in generating karyograms of hematologic neoplastic cells8
EML4-ALK fusion variant.3 and co-occurrent PIK3CA E542K mutation exhibiting primary resistance to three generations of ALK inhibitors7
Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2)7
Comprehensive analysis of PLKs expression and prognosis in breast cancer7
Integrated genomic analysis using chromosomal microarray, fluorescence in situ hybridization and mate pair analyses: Characterization of a cryptic t(9;22)(p24.1;q11.2)/BCR-JAK2 in myeloid/lymphoid neo7
LINE-1 retrotransposon encoded ORF1p expression and promoter methylation in oral squamous cell carcinoma: a pilot study7
The clinical aspect of NTRK-fusions in pediatric papillary thyroid cancer7
NRF2 metagene signature is a novel prognostic biomarker in colorectal cancer7
Genetic heterogeneity and predictive biomarker for pulmonary sarcomatoid carcinomas7
Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome7
NTRK point mutations and their functional consequences6
Exosomal DNMT1 mRNA transcript is elevated in acute lymphoblastic leukemia which might reprograms leukemia progression6
Invasive ACTH-producing pituitary gland neoplasm secondary to MSH2 mutation6
Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome6
A DNA methylation panel for high performance detection of colorectal cancer6
Pan-tumor screening for NTRK gene fusions using pan-TRK immunohistochemistry and RNA NGS fusion panel testing6
Characterizing false-positive fluorescence in situ hybridization results by mate-pair sequencing in a patient with chronic myeloid leukemia and progression to myeloid blast crisis6
Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma6
MUC16 mutation is associated with tumor grade, clinical features, and prognosis in glioma patients6
Whole-exome sequencing in osteosarcoma with distinct prognosis reveals disparate genetic heterogeneity5
The oncogenic roles of NTRK fusions and methods of molecular diagnosis5
Germline mutation in the NBR1 gene involved in autophagy detected in a family with renal tumors5
Kinetics of DNA damage repair response accompanying initial hepadnavirus-host genomic integration in woodchuck hepatitis virus infection of hepatocyte5
Enrichment of atypical hyperdiploidy and IKZF1 deletions detected by SNP-microarray in high-risk Australian AIEOP-BFM B-cell acute lymphoblastic leukaemia cohort5
Myeloid neoplasm with a novel cryptic PDGFRB rearrangement detected by next-generation sequencing5
Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions5
Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study5
Diagnostic testing approaches for the identification of patients with TRK fusion cancer prior to enrollment in clinical trials investigating larotrectinib5
Expression and potential immune involvement of cuproptosis in kidney renal clear cell carcinoma5
A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies5
A 10-gene-methylation-based signature for prognosis prediction of colorectal cancer5
Microarray-based analysis of the BRAF V600 mutations in circulating tumor DNA in melanoma patients5
Over‐expression of USP15/MMP3 predict poor prognosis and promote growth, migration in non-small cell lung cancer cells5
Evaluation of DNA methylation in promoter regions of hTERT, TWIST1, VIM and NID2 genes in Moroccan bladder cancer patients5
Association between XRCC3 Thr241Met polymorphism and risk of gynecological malignancies: A meta-analysis5
Consensus molecular subtyping of colorectal cancers is influenced by goblet cell content5
A Novel KMT2A-ARHGEF12 Fusion Gene Identified in a High-Grade B-cell Lymphoma4
Identification of diagnostic DNA methylation biomarkers specific for early-stage lung adenocarcinoma4
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients4
Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3’UTR of the MSH6 gene4
Generation and characterization of the Eµ-Irf8 mouse model4
Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology4
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 meal4
Molecular follow-up of first-line treatment by osimertinib in lung cancer: Importance of using appropriate tools for detecting EGFR resistance mutation C797S4
Current concepts in breast cancer genomics: An evidence based review by the CGC breast cancer working group4
The prognostic significance of FOXC2 gene expression in cancer: A comprehensive analysis of RNA-seq data from the cancer genome atlas4
Molecular profiling of osteosarcoma in children and adolescents from different age groups using a next-generation sequencing panel4
Multi-omics inference of differential breast cancer-related transcriptional regulatory network gene hubs between young Black and White patients4
Identification and prevalence of potentially therapeutic targetable variants of major cancer driver genes in ampullary cancer patients in India through deep sequencing4
Genetic variants as biomarkers for progression and resistance in multiple myeloma4
Cancer risk among RECQL4 heterozygotes4
Ataxia telangiectasia mutated germline pathogenic variant in adrenocortical carcinoma4
Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey4
Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma4
BCL11A gene over-expression in high risk neuroblastoma4
Mesothelin CAR‐T cells secreting PD‐L1 blocking scFv for pancreatic cancer treatment3
BCR-ABL1 positive AML or CML in blast crisis? A pediatric case report with inv(3) and t(9;22) in the initial clone3
Enhancement of MDM2 inhibitory effects through blocking nuclear export mechanisms in ovarian cancer cells3
Identification of a novel resistance ALK p.(Q1188_L1190del) deletion in a patient with ALK-rearranged non–small-cell lung cancer3
Therapy-related acute myeloid leukemia with KMT2A-SNX9 gene fusion associated with a hyperdiploid karyotype after hemophagocytic lymphohistiocytosis3
Somatic tumor testing implications for Lynch syndrome germline genetic testing3
Dynamics of cell-free DNA in predicting response in adult diffuse glioma on chemoradiotherapy3
Hereditary inflammatory fibroid polyps caused by germline pathogenic variants in PDGFRA: Refining PDGFRA-mutation syndrome3
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 abnormalities3
Copy number assessment in the genomic analysis of CNS neoplasia: An evidence-based review from the cancer genomics consortium (CGC) working group on primary CNS tumors3
Rare monosomy 7 and deletion 7p at diagnosis of chronic myeloid leukemia in accelerated phase3
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 gene3
Integrating transcriptome-wide association study and copy number variation study identifies candidate genes and pathways for diffuse non-Hodgkin's lymphoma3
Neurotrophic tyrosine receptor kinase fusion in pediatric central nervous system tumors3
Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers3
Discovery of BRCA1/BRCA2 founder variants by haplotype analysis3
The role of P62 in the development of human thyroid cancer and its possible mechanism3
Distinct mechanisms of PTEN inactivation in dogs and humans highlight convergent molecular events that drive cell division in the pathogenesis of osteosarcoma3
First report of t(5;11) KMT2A-MAML1 fusion in de novo infant acute lymphoblastic leukemia3
Functional analysis of ATM variants in a high risk cohort provides insight into missing heritability2
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
Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease2
Association of the KRAS genotype and clinicopathologic findings of resected non‐small‐cell lung cancer: A pooled analysis of 179 patients2
Novel genomic signature predictive of response to immune checkpoint blockade: A pan-cancer analysis from project Genomics Evidence Neo-plasia Information Exchange (GENIE)2
Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours2
TCGA dataset screening for genes implicated in endometrial cancer using RNA-seq profiling2
Rare and potentially fatal ‐ Cytogenetically cryptic TNIP1::PDGFRB and PCM1::FGFR1 fusion leading to myeloid/lymphoid neoplasms with eosinophilia in children2
Newly designed breakapart FISH probe helps to identify cases with true MECOM rearrangement in myeloid malignancies2
Molecular profiling of gynecologic cancers for treatment and management of disease – demonstrating clinical significance using the AMP/ASCO/CAP guidelines for interpretation and reporting of somatic v2
Expression of a novel type of KMT2A/EPS15 fusion transcript in FLT3 mutation-positive B-lymphoblastic leukemia with t(1;11)(p32;q23)2
Analysis of polymorphisms in EGF, EGFR and HER2 genes in pancreatic neuroendocrine tumors (PNETs)2
Pan-cancer genetic analysis of disulfidptosis-related gene set2
Interpretative differences of combined cytogenetic and molecular profiling highlights differences between MRC and ELN classifications of AML2
Genetic progression of post-transplant Burkitt-like lymphoma case with 11q-Gain/Loss and MYC amplification2
Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia2
Trisomy 3, a sole recurrent cytogenetic abnormality in pediatric polymorphic post-transplant lymphoproliferative disorder (PTLD)2
Determination of the key ccRCC-related molecules from monolayer network to three-layer network2
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
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients2
A literature review and database of how the primary KIT/PDGFRA variant of a gastrointestinal stromal tumour predicts for sensitivity to imatinib2
A novel missense mutation in the folliculin gene associated with the renal tumor-only phenotype of Birt-Hogg-Dubé syndrome2
Twin-to-twin transmission of transient abnormal myelopoiesis without constitutional trisomy 21: A case report2
MYC amplification on double minute chromosomes in plasma cell leukemia with double IGH/CCND1 fusion genes2
Homologous recombination deficiency prediction using low-pass whole genome sequencing in breast cancer2
Enumeration, characterisation and clinicopathological significance of circulating tumour cells in patients with colorectal carcinoma2
A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma2
Mitochondrial DNA polymorphisms and biogenesis genes in primary and metastatic uveal melanoma cell lines2
CytoGPS: A large-scale karyotype analysis of CML data2
A novel case of intrachromosomal amplification and insertion of RUNX1 on derivative chromosome 2 in pediatric AML2
Synchronous driver gene alterations (EGFR L858R, T790M, and ROS1) rearrangements in a patient with early-stage lung adenocarcinoma2
A novel, germline, deactivating CBL variant p.L493F alters domain orientation and is associated with multiple childhood cancers2
Novel high–risk acute myeloid leukemia subgroup with ERG amplification and Biallelic loss of TP532
Somatic mutation variant analysis in rural, resectable non‐small cell lung carcinoma patients2
Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion–deletion variant located in a region of complex genomic architecture2
Vulvar Melanoma in association with germline MITF p.E318K variant2
Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome2
Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants1
Philadelphia chromosome- positive myelodysplastic syndrome with single lineage dysplasia1
64. FAIR sharing of cancer GWAS data via the NHGRI-EBI GWAS catalog1
Complex karyotype with double Philadelphia chromosome and T315I mutation results in blastic phase and extensive extramedullary infiltration in a chronic myeloid leukemia patient1
Somatic NF1 mutations in pituitary adenomas: Report of two cases1
Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?1
Epithelial-mesenchymal transition-related gene prognostic index and phenotyping clusters for hepatocellular carcinoma patients1
Malignant peripheral nerve sheath tumor on a patient with a maternally inherited novel NF1 gene pathogenic germline variant: Case report1
Extracellular genetic materials and their application in clinical practice1
t(10;12)(q24;q15): A new cytogenetic marker in hematological malignancies1
NTRK-fusions in pediatric thyroid tumors: Current state and future perspectives1
Patient with multiple genetically distinct thyroid nodules including papillary thyroid carcinoma harboring novel YWHAG-BRAF fusion1
Concomitance of a novel RMDN2-ALK fusion and an EML4-ALK fusion in a lung adenocarcinoma1
Acute myeloid leukemia with t(X;6)9p11;q23);MYB-GATA1 and female sex: GATA1 insufficiency may be insufficient for pathogenesis1
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
Case report of a man with multiple paragangliomas and pathogenic germline variants in both NF1 and SDHD1
Identification of variant APL translocations PRKAR1A-RARα and ZBTB16-RARα (PLZF-RARα) through the MI-ONCOSEQ platform1
Mast cell leukemia with novel BRAF variant and concomitant atypical KIT variant1
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
Somatic tumor mutations in moderate risk cancer genes: Targets for germline confirmatory testing1
A pediatric BAL case with double Ph chromosomes and trisomy 51
A variant e13a3 BCR-ABL1 fusion transcript in refractory adult B-cell acute lymphoblastic leukemia achieving complete remission with CAR-Tcell therapy1
A founder CHEK2 pathogenic variant in association with kidney cancer1
Longitudinal change of genetic variations in cetuximab-treated metastatic colorectal cancer1
Copy number alterations identify a smoking-associated expression signature predictive of poor outcome in head and neck squamous cell carcinoma1
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
Ossifying low grade endometrial stromal sarcoma with PHF1-BRD8 fusion1
Gene expression-based immune infiltration analyses of liver cancer and their associations with survival outcomes1
How to structure an oncogenetics service for the public health system: Report of the implementation of the first service in Northeastern Brazil1
A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-11
28. Next-generation sequencing as a tool for precision medicine in clinical oncology1
Differences in the mitochondrial microsatellite instability of Keratoacanthoma and cutaneous squamous cell carcinoma1
Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect1
Selection for or against escape from nonsense mediated decay is a novel signature for the detection of cancer genes1
8. Integrating genomic and transcriptomic data to identify splice altering mutations across 35 cancer types1
Paroxysmal nocturnal hemoglobinuria and myelodysplastic syndrome: Disappearance of cytogenetic abnormalities1
14. Prenatal diagnosis of Acrofacial Dysostosis type 1 (Nager syndrome) by chromosomal microarray at the exon level1
7. Adoption of optical genome mapping in clinical cancer cytogenetic laboratory: A stepwise approach1
Evaluation of anti-angiogenic agent F16 for targeting glioblastoma xenograft tumors1
Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family1
Clinical impact of 5ʹMYC or 3ʹMYC gain/loss detected by FISH in patients with aggressive B-cell lymphomas1
A prognostic gene signature for predicting survival outcome in diffuse large B-cell lymphoma1
A novel heptasomy 21 associated with complete loss of heterozygosity and loss of function RUNX1 mutation in acute myeloid leukemia1
Evolution of germline TP53 variant classification in children with cancer1
FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome1
53. Genomic characterization of brain metastases identifies drivers of metastatic lung adenocarcinoma1
45. Deconstruction of pancreatic ductal adenocarcinoma identifies survival-associated tumor microenvironmental communities1
A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia1
79. Extraction of multiple analytes in liquid biopsy may improve the diagnosis of breast cancer1
Prognostic impact of molecular profiles and molecular signatures in clear cell ovarian cancer1
22. Characterization of atypical iAMP21 observed in B-Lymphoblastic Leukemia (B-ALL): A retrospective study from Mayo Clinic1
Identification of BRIP1, NSMCE2, ANAPC7, RAD18 and TTL from chromosome segregation gene set associated with hepatocellular carcinoma1
Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis1
Rapid FISH results within one hour1
PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas1
Molecular determinants of clinical outcomes for anaplastic lymphoma kinase–positive non-small cell lung cancer in Chinese patients: A retrospective study1
Clinical utility of chromosomal microarray in establishing clonality and high risk features in patients with Richter transformation1
The hsa-miR-516a-5p and hsa-miR-516b-5p microRNAs reduce the migration and invasion on T98G glioblastoma cell line1
When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives1
24. Clinical considerations for migration between genome assemblies: Lessons learned in moving to GRCh381
43. Structural changes characterized by whole genome mate-pair sequencing in a case with ETV6/ABL1 gene fusion and atypical Chronic Myeloid Leukemia0
43. Adapting CIViC, a cancer variant interpretation knowledgebase, to support variants in disorders of somatic mosaicism0
Clinical exome sequencing identified POLB c.C1002A as a possible genetic cause in a family with hereditary cancer-predisposing syndrome0
Pathogenicity reclassification of two BRCA1/BRCA2 exonic duplications after identification of genomic breakpoints and tandem orientation0
High frequency of BCL2 gene rearrangement-negative follicular lymphoma in northwestern Italy0
RNA profile of immuno‐magnetically enriched lung cancer associated exosomes isolated from clinical samples0
67. Long noncoding RNAs encoding peptides in cancer0
48. Crowdsourcing expert curation of somatic variants by the ClinGen Somatic Hematologic Cancer Taskforce0
88. Significant association of BRCA1, BRCA2 and TP53 gene polymorphisms with breast cancer risk in Khyber Pakhtunkhwa, Pakistan0
51. PS4 utilization for PIK3CA variants implicated in disorders of somatic mosaicism0
134. Novel fusions in aggressive infant sarcomas: Expanding the scope of 'CIC-rearranged' sarcoma without CIC rearrangement0
35. Frequencies of Turner syndrome abnormalities as detected by high resolution chromosomal microarray in products of conception and postnatal blood samples0
116. Integrating methylation profiling into adult brain tumor diagnostics - the Australian experience0
68. Validation of CNA detection using an amplicon-based targeted NGS panel for hematological malignancies0
34. Discovery of circular RNAs through integration of short- and long-read RNA sequencing0
56. Therapy-Related B-Lymphoblastic Leukemia in adults is associated with frequent TP53 alterations and inferior survival0
123. Chromosomal microarray assists interpretation of cytogenetic abnormalities in hematopoietic malignancies0
29. Launching a CGC initiative to support trainees and early career members: Survey results and analysis0
28. Identification of TP53 germline variants in pediatric patients undergoing tumor testing0
17. Multi-consortia initiative to standardize the representation and curation of oncogenic fusions0
26. Community engagement for crowd-sourcing clinically relevant somatic variants, the CIViC experience.0
Unfolded protein response signature unveils novel insights into breast cancer prognosis and tumor microenvironment0
Detecting the “undetectable” alterations: Use of NGS to uncover high-risk alterations0
20. Diagnostic utility and lessons learned from deep sequencing vascular malformations0
60. Panning for neoantigens to demonstrate feasibility of neoantigen vaccines in canine melanoma0
Pigmented (melanotic) myoepithelial tumor of soft tissue with EWSR1-KLF17 fusion0
121. Single cell TCR sequencing identifies an enriched V(D)J repertoire in canine melanoma0
21. A case of acute myeloid leukemia with gain of two copies of neocentromeric chromosome 110
51. Discerning cell types and states in spatial transcriptomics data using topic modelling0
48. Utility of whole genome optical mapping (WGOM) in cytogenetic analysis of solid tumors and hematologic malignancies (HM)0
68. Integrative analysis of genomic and transcriptomic data using RegTools to identify splice-altering mutations within bulk0
30. Characterization of atypical iAMP21 observed in B-Lymphoblastic Leukemia (B-ALL): a 2.5-year retrospective study from the Mayo Clinic0
85. Cell-type-specific genotypic interpretation in the human breast0
65. Accurate neoantigen prediction depends on mutation position relative to patient-specific MHC anchor locations0
55. A familial clinical presentation of neurofibromatosis type 1 co-segregates with a unique chromosomal abnormality0
4. ETV6-ABL1 variant rearrangement described in a childhood ALL patient0
23. Incidental findings on XON array: Our experience over the last two years0
32. Genetic diagnosis of bone marrow failure syndromes: Strategies, yields, and challenges0
18. Two distinct cell lines in one hepatoblastoma tissue block0
Comprehensive FISH testing using FFPE tissue microarray of primary lymph node tissue identifies secondary cytogenetic abnormalities in Mantle Cell Lymphoma0
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
22. Masked hypodiploid B-Cell Lymphoblastic Leukemia (B-ALL) characterized by SNP microarray in a Li Fraumeni syndrome patient with post therapy karyotype changes0
58. Improving the molecular diagnosis of SBDS-related disorders by identifying rare gene conversion events.0
23. Concurrent detection of CNVs and mutations using a myeloid malignancy NGS panel: Is it ready for prime time?0
28. Detection of small mutations, copy number alterations and structural variations from targeted cfDNA sequencing in cancer0
2. Large structural variations in inflammatory breast cancer identifies possible pathognomonic alterations0
1. Microdeletion 13q12.2 in B cell acute lymphoblastic leukemia: Little but important!0
Editorial Board0
86. Whole genome sequencing of mouse derived cell-free DNA to develop a NF1-MPNST-PDX liquid biopsy model0
67. NUP98 rearrangements in hematologic malignancies: A 4-year review from the genomics laboratory0
135. Tumor deconvolution using comprehensive single-cell RNA sequencing cell type signatures0
44. Reevaluation of copy number variant (CNV) classifications in the clinical laboratory setting: challenges, insights, and experiences with a laboratory-initiated process0
Editorial Board0
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