BMC Medical Genomics

Papers
(The TQCC of BMC Medical Genomics is 5. 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 2021-05-01 to 2025-05-01.)
ArticleCitations
KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells53
AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness52
Identification of miR-143-3p as a diagnostic biomarker in gastric cancer46
Identification and validation of signal recognition particle 14 as a prognostic biomarker predicting overall survival in patients with acute myeloid leukemia38
Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma34
A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report30
Genomic analysis of circulating tumor cells in adenosquamous carcinoma of the prostate: a case report28
Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation27
Exploring the biological function of immune cell-related genes in human immunodeficiency virus (HIV)-1 infection based on weighted gene co-expression network analysis (WGCNA)25
Genomic characterization of methicillin-resistant Staphylococcus aureus isolated from patients attending regional referral hospitals in Tanzania24
Comprehensive analysis reveals the potential value of inflammatory response genes in the prognosis, immunity, and drug sensitivity of lung adenocarcinoma24
Correction: Transcriptome profiling analysis reveals that CXCL2 is involved in anlotinib resistance in human lung cancer cells22
Interaction, immune infiltration characteristics and prognostic modeling of efferocytosis-related subtypes in glioblastoma22
Drug-target binding affinity prediction based on power graph and word2vec21
Identification of diagnostic model in heart failure with myocardial fibrosis and conduction block by integrated gene co-expression network analysis20
ADNP is associated with immune infiltration and radiosensitivity in hepatocellular carcinoma for predicting the prognosis20
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan19
Integrated bioinformatics analysis and experimental validation reveal the relationship between ALOX5AP and the prognosis and immune microenvironment in glioma19
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases19
Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review18
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets18
Mutation spectrum, expression profiling, and prognosis evaluation of Fanconi anemia signaling pathway genes for 4259 patients with myelodysplastic syndromes or acute myeloid leukemia18
Comprehensive analysis of the immunogenic cell death-related signature for predicting prognosis and immunotherapy efficiency in patients with lung adenocarcinoma17
The frequency of the known mitochondrial variants associated with drug-induced toxicity in a Korean population17
Analyzing the expression and clinical significance of CENPE in gastric cancer17
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review17
The prognostic significance of ubiquitination-related genes in multiple myeloma by bioinformatics analysis17
How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?17
Identification of potential diagnostic biomarkers of atherosclerosis based on bioinformatics strategy17
A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family16
Revealing platelet-related subtypes and prognostic signature in pancreatic adenocarcinoma16
Turning up the heat on non-immunoreactive tumors: autophagy influences the immune microenvironment in pancreatic cancer16
Somatic targeted mutation profiling of colorectal cancer precursor lesions16
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme16
Biochemical markers and FokI and TaqI vitamin D receptor genes polymorphism in rheumatoid arthritis16
Mutational landscape of pan-cancer patients with PIK3CA alterations in Chinese population16
Exploring diagnostic m6A regulators in primary open-angle glaucoma: insight from gene signature and possible mechanisms by which key genes function15
Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review15
Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature15
Epigenetic age acceleration is associated with blood lipid levels in a multi-ancestry sample of older U.S. adults15
CLOCK gene 3’UTR and exon 9 polymorphisms show a strong association with essential hypertension in a North Indian population14
Label propagation-based semi-supervised feature selection on decoding clinical phenotypes with RNA-seq data14
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis14
Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome14
Genetic contribution of caspase-8 variants and haplotypes to breast cancer risk and prognosis: a case-control study in Iran14
Genetic analysis of partial duplication of the long arm of chromosome 1614
Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy14
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia14
The correlation between promoter hypermethylation of VDR, CLDN, and CasR genes and recurrent stone formation13
Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China13
Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant13
Inflammatory response-based prognostication and personalized therapy decisions in clear cell renal cell cancer to aid precision oncology13
RETRACTED ARTICLE: LncRNA PTCSC3 is upregulated in osteoporosis and negatively regulates osteoblast apoptosis13
Identification and analysis of MSC-Exo-derived LncRNAs related to the regulation of EMT in hypospadias12
Identification of necroptosis-related gene TRAF5 as potential target of diagnosing atherosclerosis and assessing its stability12
Expression profile of circRNA in peripheral blood mononuclear cells of patients with rheumatoid arthritis12
Comprehensive bioinformatic analysis of the expression and prognostic significance of TSC22D domain family genes in adult acute myeloid leukemia12
Unveiling the role of miR-137-3p/miR-296-5p/SERPINA3 signaling in colorectal cancer progression: integrative analysis of gene expression profiles and in vitro studies12
Signature transcriptome analysis of stage specific atherosclerotic plaques of patients12
Construction and function analysis of the LncRNA-miRNA-mRNA competing endogenous RNA network in autoimmune hepatitis12
Basement membrane-related regulators for prediction of prognoses and responses to diverse therapies in hepatocellular carcinoma12
Identifying key genes and functionally enriched pathways in Th2-high asthma by weighted gene co-expression network analysis12
Retinoblastoma gene expression profiling based on bioinformatics analysis11
Integrated analysis of tumor-associated macrophages and M2 macrophages in CRC: unraveling molecular heterogeneity and developing a novel risk signature11
Detection and identification of Naegleria species along with Naegleria fowleri in the tap water samples11
Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review11
Key m6A regulators mediated methylation modification pattern and immune infiltration characterization in hepatic ischemia-reperfusion injury11
Correction to: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report11
Genetic analysis of a pedigree with MECP2 duplication syndrome in China11
CYP19A1 promotes gastric cancer as part of a lipid metabolism-related gene signature related to the response of immunotherapy and prognosis11
Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss11
Associative gene networks reveal novel candidates important for ADHD and dyslexia comorbidity11
CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case–control study11
Causal effects between circulating immune cells and heart failure: evidence from a bidirectional Mendelian randomization study11
Genomic features of Chinese small cell lung cancer11
AVPR2 is a potential prognostic biomarker and correlated with immune infiltration in head and neck squamous cell carcinoma11
Network proximity analysis as a theoretical model for identifying potential novel therapies in primary sclerosing cholangitis11
lncRNA-MIAT rs9625066 polymorphism could be a potential biomarker for ischemic stroke10
In silico analysis suggests disruption of interactions between HAMP from hepatocytes and SLC40A1 from macrophages in hepatocellular carcinoma10
Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot10
Integration analysis of lncRNA and mRNA expression data identifies DOCK4 as a potential biomarker for elderly osteoporosis10
Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A110
Analysis of REST binding sites with canonical and non-canonical motifs in human cell lines10
Multiple malignant tumors in a patient with familial chordoma, a case report10
Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A110
Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations10
Identification of DNA methylation characteristics associated with metastasis and prognosis in colorectal cancer10
Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report10
Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women10
Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia10
Case-control study on CYP4B1 gene polymorphism and susceptibility to gastric cancer in the chinese Han population10
Quality control recommendations for RNASeq using FFPE samples based on pre-sequencing lab metrics and post-sequencing bioinformatics metrics10
Effects and associated transcriptomic landscape changes of methamphetamine on immune cells10
Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China9
Analysis of multiple gene co-expression networks to discover interactions favoring CFTR biogenesis and ΔF508-CFTR rescue9
Identifying genetic markers enriched by brain imaging endophenotypes in Alzheimer’s disease9
Integrative enrichment analysis of gene expression based on an artificial neuron9
The role of Neanderthal introgression in liver cancer9
An intron SNP rs2069837 in IL-6 is associated with osteonecrosis of the femoral head development9
Correction: Genomic profiling of sporadic multiple meningiomas9
Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review9
Repeat to gene expression ratios in leukemic blast cells can stratify risk prediction in acute myeloid leukemia9
Construction of 11 metabolic-related lncRNAs to predict the prognosis in lung adenocarcinoma9
Association between NR3C1 gene polymorphisms and age-related hearing impairment in Qingdao Chinese elderly9
Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss9
A retrospective analysis of MS/MS screening for IEM in high-risk areas9
Association of VEGF haplotypes with breast cancer risk in North-West Indians9
Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons9
A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV9
BNIPL is a promising biomarker of laryngeal cancer: novel insights from bioinformatics analysis and experimental validation8
Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree8
A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics8
Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 18
Identification of four TTN variants in three families with fetal akinesia deformation sequence8
Despite low viral titer in saliva samples, Sanger-based SARS-CoV-2 spike gene sequencing is highly applicable for the variant identification8
Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders8
Nine dietary habits and risk of colorectal cancer: a Mendelian randomization study8
Biomarker prediction in autism spectrum disorder using a network-based approach8
Comprehensive analysis of prognostic value and immune infiltration of kindlin family members in non-small cell lung cancer8
Association of MTHFR C677T variant genotype with serum folate and Vit B12 in Iranian patients with colorectal cancer or adenomatous polyps8
Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis8
A case report of pediatric acute lymphoblastic leukemia with e8a2 BCR/ABL1 fusion transcript8
Diagnostic accuracy of circular RNA for diabetes Mellitus: a systematic review and diagnostic Meta-analysis8
A novel DNA damage repair gene-related prognostic model for evaluating the prognosis and tumor microenvironment infiltration of esophageal squamous cell carcinoma8
The identification of novel gene mutations for degenerative lumbar spinal stenosis using whole-exome sequencing in a Chinese cohort8
A randomized trial evaluating the association between related gene polymorphism and nausea and vomiting induced by cisplatin multi-day chemotherapy8
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review8
Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants8
A five metastasis-related long noncoding RNA risk signature for osteosarcoma survival prediction8
Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome8
Genetic study of the causal effect of lipid profiles on insomnia risk: a Mendelian randomization trial8
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing8
Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study8
Test development, optimization and validation of a WGS pipeline for genetic disorders8
Bioinformatics screening of colorectal-cancer causing molecular signatures through gene expression profiles to discover therapeutic targets and candidate agents8
RNA-seq reveals differentially expressed lncRNAs and circRNAs and their associated functional network in HTR-8/Svneo cells under hypoxic conditions8
The influence of Nrf2 gene promoter methylation on gene expression and oxidative stress parameters in preeclampsia8
Subcutaneous adipose tissue alteration in aging process associated with thyroid hormone signaling7
Identification of immune-related biomarkers and construction of regulatory network in patients with atherosclerosis7
A pyroptosis-related gene signature provides an alternative for predicting the prognosis of patients with hepatocellular carcinoma7
A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome7
Transcriptome sequencing reveals regulatory genes associated with neurogenic hearing loss7
Transcriptomic analysis delineates preterm prelabor rupture of membranes from preterm labor in preterm fetal membranes7
Novel combined variants of WT1 and TET2 in a refractory and recurrent AML patient7
Proteomic analysis of lysine 2-hydroxyisobutyryl in SLE reveals protein modification alteration in complement and coagulation cascades and platelet activation Pathways7
Effects of major depression and bipolar disorder on erectile dysfunction: a two-sample mendelian randomization study7
Early contribution of germline and nevi genetic alterations to a rapidly-progressing cutaneous melanoma patient: a case report7
Glycosyltransferase GLT8D1 and GLT8D2 serve as potential prognostic biomarkers correlated with Tumor Immunity in Gastric Cancer7
Genetic targets related to aging for the treatment of coronary artery disease7
Mediation role of body fat distribution (FD) on the relationship between CAV1 rs3807992 polymorphism and metabolic syndrome in overweight and obese women7
Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel7
Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients7
Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing7
Causal effects of gut microbiome on autoimmune liver disease: a two-sample Mendelian randomization study7
Study on the mechanism of BGN in progression and metastasis of ccRCC7
Ultra-sensitive molecular detection of gene fusions from RNA using ASPYRE7
A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures7
In-vivo design feedback and perceived utility of a genetically-informed smoking risk tool among current smokers in the community7
NQO1 polymorphism and susceptibility to ischemic stroke in a Chinese population7
Risk stratification of lung adenocarcinoma using a nomogram combined with ferroptosis-related LncRNAs and subgroup analysis with immune and N6-methyladenosine modification7
Identification of molecular subgroups in osteomyelitis induced by staphylococcus aureus infection through gene expression profiles7
A blood RNA transcriptome signature for COVID-197
Transcriptomic analysis reveals pathophysiological relationship between chronic obstructive pulmonary disease (COPD) and periodontitis7
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants7
A hypoxia–glycolysis–lactate-related gene signature for prognosis prediction in hepatocellular carcinoma7
Correction: Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing7
Construction and validation of a metabolism-associated gene signature for predicting the prognosis, immune landscape, and drug sensitivity in bladder cancer7
Comparison of methylation estimates obtained via MinION nanopore sequencing and sanger bisulfite sequencing in the TRPA1 promoter region7
Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis7
Comprehensive analysis of the expression, prognostic, and immune infiltration for COL4s in stomach adenocarcinoma7
Expression alteration of serum exosomal circular RNAs in obstructive sleep apnea patients with acute myocardial infarction7
A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report7
Identification of a novel FGF3 variant and a new phenotype in three LAMM syndrome families7
Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease7
Targeting RECQL4 in hepatocellular carcinoma: from prognosis to therapeutic potential7
Potential miRNA-gene interactions determining progression of various ATLL cancer subtypes after infection by HTLV-1 oncovirus7
Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report7
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis7
Integrative analysis of eQTL and GWAS summary statistics reveals transcriptomic alteration in Alzheimer brains7
Evaluation of the effect of MTNR1B rs10830963 gene variant on the therapeutic efficacy of nateglinide in treating type 2 diabetes among Chinese Han patients7
CXCR3 predicts the prognosis of endometrial adenocarcinoma7
Influence of pharmacogenomic polymorphisms on allopurinol-induced cutaneous adverse drug reactions in Thai patients7
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction6
Analysis of molecular epidemiological characteristics and antimicrobial susceptibility of vancomycin-resistant and linezolid-resistant Enterococcus in China6
Revealing novel pyroptosis-related therapeutic targets for sepsis based on machine learning6
Identification of immunization-related new prognostic biomarkers for papillary renal cell carcinoma by integrated bioinformatics analysis6
Copy number variation of urine exfoliated cells by low-coverage whole genome sequencing for diagnosis of prostate adenocarcinoma: a prospective cohort study6
Discovering the interactome, functions, and clinical relevance of enhancer RNAs in kidney renal clear cell carcinoma6
Genome-wide analysis of retinal transcriptome reveals common genetic network underlying perception of contrast and optical defocus detection6
Comprehensive analysis of ferroptosis-related genes and prognosis of cutaneous melanoma6
A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing6
Identification of ferroptosis related biomarkers and immune infiltration in Parkinson’s disease by integrated bioinformatic analysis6
Association of gastric inhibitory polypeptide receptor (GIPR) gene polymorphism with type 2 diabetes mellitus in iranian patients6
Differential expression of the circadian clock network correlates with tumour progression in gliomas6
Genomic and transcriptional characterization of early esophageal squamous cell carcinoma6
Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study6
Nanopore-based full-length transcriptome sequencing for understanding the underlying molecular mechanisms of rapid and slow progression of diabetes nephropathy6
Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation6
Shared etiology of Mendelian and complex disease supports drug discovery6
Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome6
Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review6
Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach6
A pyroptosis-associated signature plays a role in prognosis prediction in clear cell renal cell carcinoma6
Minimum redundancy maximal relevance gene selection of apoptosis pathway genes in peripheral blood mononuclear cells of HIV-infected patients with antiretroviral therapy-associated mitochondrial toxic6
A novel mutation in SORD gene associated with distal hereditary motor neuropathies6
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases6
An exosome mRNA-related gene risk model to evaluate the tumor microenvironment and predict prognosis in hepatocellular carcinoma6
Integrated analysis and exploration of potential shared gene signatures between carotid atherosclerosis and periodontitis6
A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching6
Tumorigenic role of Pak4 in ovarian cancer and its correlation with immune infiltration6
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus6
Association of disease severity and genetic variation during primary Respiratory Syncytial Virus infections6
VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer6
An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing6
Genome-wide DNA methylation profiling of CD4+ T lymphocytes identifies differentially methylated loci associated with adult primary refractory immune thrombocytopenia6
Identification of a novel lymphangiogenesis signature associated with immune cell infiltration in colorectal cancer based on bioinformatics analysis6
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family6
Systematic analysis of prognostic significance, functional enrichment and immune implication of STK10 in acute myeloid leukemia6
Integration of single-cell sequencing and bulk expression data reveals chemokine signaling pathway in proliferating cells is associated with the survival outcome of osteosarcoma6
Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing6
Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases6
Elevated expression of APOO as a potential prognostic marker in breast cancer: insights from bioinformatic analysis and experimental validation6
Predictive significance of glycolysis-associated lncRNA profiles in colorectal cancer progression6
Whole exome sequencing analysis of 167 men with primary infertility6
Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting6
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study6
EARN: an ensemble machine learning algorithm to predict driver genes in metastatic breast cancer6
HBV genome-enriched single cell sequencing revealed heterogeneity in HBV-driven hepatocellular carcinoma (HCC)6
New insight into the development of synpolydactyly caused by expansion of HOXD13 polyalanine based on weighted gene co-expression network analysis6
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort6
Bioinformatics analysis identifies potential hub genes and crucial pathways in the pathogenesis of asthenozoospermia6
Identification of mitochondria-related biomarkers in childhood allergic asthma6
Effects of different temperatures on chondrocyte growth: a transcriptomic analysis6
A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report6
Asthma and atopic dermatitis as risk factors for rheumatoid arthritis: a bidirectional mendelian randomization study6
GPX8+ cancer-associated fibroblast, as a cancer-promoting factor in lung adenocarcinoma, is related to the immunosuppressive microenvironment6
Custom gene expression panel for evaluation of potential molecular markers in hepatocellular carcinoma6
Comparison of tumor and two types of paratumoral tissues highlighted epigenetic regulation of transcription during field cancerization in non-small cell lung cancer5
Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene5
Involvement of immune system and Epithelial–Mesenchymal-Transition in increased invasiveness of clustered circulatory tumor cells in breast cancer5
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows5
Proteomics analysis of chronic skin injuries caused by mustard gas5
A systematic analysis of deep learning in genomics and histopathology for precision oncology5
A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum5
Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes5
TPX2 promotes papillary renal cell carcinoma progression by forming a ceRNA with LINC008945
Identification of a hub gene VCL for atherosclerotic plaques and discovery of potential therapeutic targets by molecular docking5
Exonic variants undergoing allele-specific selection in cancers5
Identification of the expression patterns and potential prognostic role of m6A-RNA methylation regulators in Wilms Tumor5
Identification of genetic mechanisms underlying lipid metabolism-mediated tumor immunity in head and neck squamous cell carcinoma5
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