BMC Medical Genomics

Papers
(The TQCC of BMC Medical Genomics is 4. 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 2021-03-01 to 2025-03-01.)
ArticleCitations
Genome-wide DNA methylation profiling of CD4+ T lymphocytes identifies differentially methylated loci associated with adult primary refractory immune thrombocytopenia46
Molecular subtype identification and prognosis stratification based on golgi apparatus-related genes in head and neck squamous cell carcinoma45
Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study38
The RNA sequencing results revealed the expression of different genes and signaling pathways during chemotherapy resistance in peripheral T-cell lymphoma36
Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking31
Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing30
Identification of basement membrane-related biomarkers associated with the diagnosis of osteoarthritis based on machine learning29
Prediction of metabolic syndrome using machine learning approaches based on genetic and nutritional factors: a 14-year prospective-based cohort study29
Assessment of causal effects of physical activity on the risk of osteoarthritis: a two-sample Mendelian randomization study28
The association of RBX1 and BAMBI gene expression with oocyte maturation in PCOS women26
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia26
m6A regulator-mediated methylation modification patterns and immune microenvironment infiltration characterization in osteoarthritis26
A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia25
Contribution of PNPLA3 gene polymorphisms to hepatocellular carcinoma susceptibility in the Chinese Han population24
Long noncoding RNA UNC5B-AS1 suppresses cell proliferation by sponging miR-24-3p in glioblastoma multiforme24
Identification of osteoarthritis-characteristic genes and immunological micro-environment features through bioinformatics and machine learning-based approaches22
Circulating microRNA panels for multi-cancer detection and gastric cancer screening: leveraging a network biology approach22
Differential enrichment of H3K9me3 in intrahepatic cholangiocarcinoma21
Identification of mitochondria-related biomarkers in childhood allergic asthma21
Three nervous system-specific expressed genes are potential biomarkers for the diagnosis of sporadic amyotrophic lateral sclerosis through a bioinformatic analysis20
Identification of genes and key pathways underlying the pathophysiological association between nonalcoholic fatty liver disease and atrial fibrillation19
Genomic characterization of methicillin-resistant Staphylococcus aureus isolated from patients attending regional referral hospitals in Tanzania19
Comprehensive tumor molecular profile analysis in clinical practice19
FZD1/KLF10-hsa-miR-4762-5p/miR-224-3p-circular RNAs axis as prognostic biomarkers and therapeutic targets for glioblastoma: a comprehensive report18
ADNP is associated with immune infiltration and radiosensitivity in hepatocellular carcinoma for predicting the prognosis18
Identification and validation of iron metabolism genes in osteoporosis17
Identification of the pivotal role of SPP1 in kidney stone disease based on multiple bioinformatics analysis17
Identification of the miRNA-mRNA regulatory network associated with radiosensitivity in esophageal cancer based on integrative analysis of the TCGA and GEO data16
Integrative analyses of immune-related biomarkers and associated mechanisms in coronary heart disease16
Genomic and transcriptional characterization of early esophageal squamous cell carcinoma16
Genetic polymorphisms of GGT1 gene (rs8135987, rs5751901 and rs2017869) are associated with neoadjuvant chemotherapy efficacy and toxicities in breast cancer patients16
Prognosis prediction based on methionine metabolism genes signature in gliomas15
Broadening our understanding of genetic risk for scleroderma/systemic sclerosis by querying the chromatin architecture surrounding the risk haplotypes15
Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?15
Association of MBL2 gene polymorphisms and MBL levels with dilated cardiomyopathy in a Chinese Han population15
An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report15
Analyzing the expression and clinical significance of CENPE in gastric cancer15
AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness14
Minimum redundancy maximal relevance gene selection of apoptosis pathway genes in peripheral blood mononuclear cells of HIV-infected patients with antiretroviral therapy-associated mitochondrial toxic14
Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data14
Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review14
A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss13
MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population13
A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations13
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia13
Generalisation of genomic findings and applications of polygenic risk scores13
Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review13
A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family13
Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda13
Differential expression of pyroptosis-related genes in the hippocampus of patients with Alzheimer’s disease12
A family with Milroy disease caused by the FLT4/VEGFR3 gene variant c.2774 T > A12
Serum metabolite profiling reveals metabolic characteristics of sepsis patients using LC/MS-based metabolic profiles: a cross-sectional study12
A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure12
Biomarkers related to m6A and succinic acid metabolism in papillary thyroid carcinoma12
A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching12
Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center12
Mutation spectrum, expression profiling, and prognosis evaluation of Fanconi anemia signaling pathway genes for 4259 patients with myelodysplastic syndromes or acute myeloid leukemia11
RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects11
The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures11
Differential expression of the circadian clock network correlates with tumour progression in gliomas11
Genetic profile of Chinese patients with small bowel cancer categorized by anatomic location11
A macrophage related signature for predicting prognosis and drug sensitivity in ovarian cancer based on integrative machine learning11
Evidence for causal effects of polycystic ovary syndrome on oxidative stress: a two-sample mendelian randomisation study11
Exploring the clinical and biological significance of the cell cycle-related gene CHMP4C in prostate cancer11
Specific expression profile of follicular fluid-derived exosomal microRNAs in patients with diminished ovarian reserve11
Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases11
Drug-target binding affinity prediction based on power graph and word2vec11
A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report11
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets10
Construction and experimental validation of an acetylation-related gene signature to evaluate the recurrence and immunotherapeutic response in early-stage lung adenocarcinoma10
Prenatal diagnosis of recurrent Kagami–Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review10
Associations between (pharmaco-)genetic markers and postoperative pain after inguinal hernia repair – a prospective study protocol10
Expression profile of long noncoding RNAs and comprehensive analysis of lncRNA-cisTF-DGE regulation in condyloma acuminatum10
Identification of potential biological processes and key genes in diabetes-related stroke through weighted gene co-expression network analysis10
Identification of potential diagnostic biomarkers of atherosclerosis based on bioinformatics strategy10
Effect of ACE, ACE2 and CYP11B2 gene polymorphisms and noise on essential hypertension among steelworkers in China: a case–control study10
Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population10
VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer10
Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification10
Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach10
The prognostic significance of ubiquitination-related genes in multiple myeloma by bioinformatics analysis9
A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report9
Integration of single-cell sequencing and bulk expression data reveals chemokine signaling pathway in proliferating cells is associated with the survival outcome of osteosarcoma9
Co-regulated ceRNA network mediated by circRNA and lncRNA in patients with gouty arthritis9
Development and validation of cuproptosis-related lncRNA signatures for prognosis prediction in colorectal cancer9
Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants9
The genetic landscape of inherited retinal dystrophies in Arabs9
Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China9
KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells9
Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant9
Interaction, immune infiltration characteristics and prognostic modeling of efferocytosis-related subtypes in glioblastoma9
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort9
Comprehensive analysis of ferroptosis-related genes and prognosis of cutaneous melanoma9
Association of disease severity and genetic variation during primary Respiratory Syncytial Virus infections9
Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation9
Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss–Kruszka syndrome9
Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region9
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis8
RETRACTED ARTICLE: A novel necroptosis signature for predicting survival in lung adenocarcinoma8
Identification of ferroptosis related biomarkers and immune infiltration in Parkinson’s disease by integrated bioinformatic analysis8
Discovering the interactome, functions, and clinical relevance of enhancer RNAs in kidney renal clear cell carcinoma8
Development and validation of a novel prognostic signature based on m6A/m5C/m1A-related genes in hepatocellular carcinoma8
MassARRAY multigene screening combined with LDL-C and sdLDL-C detection for more favorable outcomes in type 2 diabetes mellitus therapy8
A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report8
Identification of potential therapeutic targets for atherosclerosis by analysing the gene signature related to different immune cells and immune regulators in atheromatous plaques8
RNA-seq analysis reveals significant transcriptome changes in huntingtin-null human neuroblastoma cells8
Ancestry specific associations of a genetic risk score, dietary patterns and metabolic syndrome: a longitudinal ARIC study8
An exosome mRNA-related gene risk model to evaluate the tumor microenvironment and predict prognosis in hepatocellular carcinoma8
Correction: Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels8
Identification of miR-143-3p as a diagnostic biomarker in gastric cancer8
Identification of sepsis-associated mitochondrial genes through RNA and single-cell sequencing approaches8
Whole exome sequencing analysis of 167 men with primary infertility8
Integrated bioinformatics analysis and experimental validation reveal the relationship between ALOX5AP and the prognosis and immune microenvironment in glioma8
Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations8
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)8
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia8
Identification and validation of signal recognition particle 14 as a prognostic biomarker predicting overall survival in patients with acute myeloid leukemia8
HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death8
Extremes of age are associated with differences in the expression of selected pattern recognition receptor genes and ACE2, the receptor for SARS-CoV-2: implications for the epidemiology of COVID-19 di8
Correction: Transcriptome profiling analysis reveals that CXCL2 is involved in anlotinib resistance in human lung cancer cells8
Comprehensive analysis of the immunogenic cell death-related signature for predicting prognosis and immunotherapy efficiency in patients with lung adenocarcinoma8
Causal association of epigenetic aging and osteoporosis: a bidirectional Mendelian randomization study8
Genomic analysis of circulating tumor cells in adenosquamous carcinoma of the prostate: a case report8
The expression of miR-513c and miR-3163 was downregulated in tumor tissues compared with normal adjacent tissue of patients with breast cancer8
Inferring miRNA-disease associations using collaborative filtering and resource allocation on a tripartite graph8
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction8
Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma8
Correction: Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene8
Genome-wide long noncoding RNA and mRNA expression profiles demonstrate associations between exposure to inorganic elements and the risk of developing hepatocellular carcinoma8
Co-expression in tissue-specific gene networks links genes in cancer-susceptibility loci to known somatic driver genes7
Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report7
Consider CUX1 variants in children with a variation of sex development: a case report and review of the literature7
Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis7
Investigation of in vitro susceptibility and resistance mechanisms to amikacin among diverse carbapenemase-producing Enterobacteriaceae7
Proteomic analysis illustrates the potential involvement of dysregulated ribosome-related pathways and disrupted metabolism during retinoic acid-induced cleft palate development7
Swimming exercise reverses transcriptomic changes in aging mouse lens7
Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients7
Comprehensive research into prognostic and immune signatures of transcription factor family in breast cancer7
Pancancer analysis of the prognostic and immunological role of FANCD2: a potential target for carcinogenesis and survival7
Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases7
Identification of diagnostic model in heart failure with myocardial fibrosis and conduction block by integrated gene co-expression network analysis7
Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome7
Frequency of pharmacogenomic variants affecting efficacy and safety of anti-cancer drugs in a south Asian population from Sri Lanka7
Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review7
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan7
Exploring the potential of genetic analysis in historical blood spots for patients with iodine-deficient goiter and thyroid carcinomas in Switzerland and Germany (1929–1989)7
A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data7
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases7
A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities7
Major depletion of insulin sensitivity-associated taxa in the gut microbiome of persons living with HIV controlled by antiretroviral drugs7
Association between miR-30 polymorphism and ischemic stroke in Chinese population7
GPX8+ cancer-associated fibroblast, as a cancer-promoting factor in lung adenocarcinoma, is related to the immunosuppressive microenvironment7
Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records7
Integrated analysis identifies GABRB3 as a biomarker in prostate cancer7
Comprehensive analysis of BTNL9 as a prognostic biomarker correlated with immune infiltrations in thyroid cancer6
Multiple metastases of androgen indifferent prostate cancer in the urinary tract: two case reports and a literature review6
Revealing novel pyroptosis-related therapeutic targets for sepsis based on machine learning6
Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family6
Comprehensive analysis reveals the potential value of inflammatory response genes in the prognosis, immunity, and drug sensitivity of lung adenocarcinoma6
Screening of core genes prognostic for sepsis and construction of a ceRNA regulatory network6
Exploring the global immune landscape of peripheral blood mononuclear cells in H5N6-infected patient with single-cell transcriptomics6
Are we there yet? A machine learning architecture to predict organotropic metastases6
Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria6
Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation6
Prognostic signature of esophageal adenocarcinoma based on pyroptosis-related genes6
A genomic mutation spectrum of collecting duct carcinoma in the Chinese population6
Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome6
Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications6
One healthy live birth after preimplantation genetic testing of a cryptic balanced translocation (9;13) in a family with cerebral palsy and glaucoma: a case report6
Proteomic analysis to identification of hypoxia related markers in spinal tuberculosis: a study based on weighted gene co-expression network analysis and machine learning6
Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic6
Glioma-BioDP: database for visualization of molecular profiles to improve prognosis of brain cancer6
Gene co-expression changes underlying the functional connectomic alterations in Alzheimer’s disease6
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)6
Identification of a novel lymphangiogenesis signature associated with immune cell infiltration in colorectal cancer based on bioinformatics analysis6
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study6
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome6
Ferroptosis related gene signature in T cell-mediated rejection after kidney transplantation6
Genetic heterogeneity of cardiomyopathy and its correlation with patient care6
High level of heterozygous haplotype of hemoglobin in Abidjan population with mild malaria6
The interactions between dietary fats intake and Caveolin 1 rs 3807992 polymorphism with fat distribution in overweight and obese women: a cross-sectional study6
Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA)6
Association of ZC3HAV1 single nucleotide polymorphisms with the susceptibility of Vogt-Koyanagi-Harada Disease6
Rapid screening and identification of viral pathogens in metagenomic data6
SARS-COV-2 as potential microRNA sponge in COVID-19 patients6
Identification of immunization-related new prognostic biomarkers for papillary renal cell carcinoma by integrated bioinformatics analysis6
Genetic liability to obesity and peptic ulcer disease: a Mendelian randomization study6
Lack of causal association between heart failure and osteoporosis: a Mendelian randomization study6
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets6
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence6
Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects6
Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review6
How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?6
Diverse cardiac phenotypes among different carriers of the same MYH7 splicing variant allele (c.732+1G>A) from a family6
HELLS serves as a poor prognostic biomarker and its downregulation reserves the malignant phenotype in pancreatic cancer6
Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation6
Revealing differential expression patterns of piRNA in FACS blood cells of SARS-CoV−2 infected patients6
Comment on Balsamo et al.: “Birt–Hogg–Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature”6
Identification of breast cancer subgroups and immune characterization based on glutamine metabolism-related genes6
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review6
A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family6
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family6
Selective gene expression profiling contributes to a better understanding of the molecular pathways underlying the histological changes observed after RHMVL6
HBV genome-enriched single cell sequencing revealed heterogeneity in HBV-driven hepatocellular carcinoma (HCC)6
Molecular epidemiology of SARS-CoV-2 isolated from COVID-19 family clusters5
Blood cell parameters and risk of nonalcoholic fatty liver disease: a comprehensive Mendelian randomization study5
Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation5
GAS6-AS1, a long noncoding RNA, functions as a key candidate gene in atrial fibrillation related stroke determined by ceRNA network analysis and WGCNA5
Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm5
Somatic targeted mutation profiling of colorectal cancer precursor lesions5
A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man5
Transcriptomic analysis reveals key molecular signatures across recovery phases of hemorrhagic fever with renal syndrome5
Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation – a case report5
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review5
Identification of key genes and pathways in atherosclerosis using integrated bioinformatics analysis5
Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy5
The Interleukin-6 gene variants may protect against SARS-CoV-2 infection and the severity of COVID-19: a case-control study in a Moroccan population5
Identifying potential pathogenesis and immune infiltration in diabetic foot ulcers using bioinformatics and in vitro analyses5
Bioinformatics analysis of miR-2861 and miR-5011-5p that function as potential tumor suppressors in colorectal carcinogenesis5
Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics5
Revealing platelet-related subtypes and prognostic signature in pancreatic adenocarcinoma5
FLT4 gene polymorphisms influence isolated ventricular septal defect predisposition in a Southwest China population5
Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families5
The noncoding RNAs regulating pyroptosis in colon adenocarcinoma were derived from the construction of a ceRNA network and used to develop a prognostic model5
A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families5
Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome5
New susceptibility alleles associated with severe coronary artery stenosis in the Lebanese population5
Identification of osteoporosis ferroptosis-related markers and potential therapeutic compounds based on bioinformatics methods and molecular docking technology5
Identification of a novel autophagy-related prognostic signature and small molecule drugs for glioblastoma by bioinformatics5
SYNJ2 is a novel and potential biomarker for the prediction and treatment of cancers: from lung squamous cell carcinoma to pan-cancer5
Identifying hub genes of sepsis-associated and hepatic encephalopathies based on bioinformatic analysis—focus on the two common encephalopathies of septic cirrhotic patients in ICU5
Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families5
A pyroptosis-associated signature plays a role in prognosis prediction in clear cell renal cell carcinoma5
PDX1 and MC4R genetic polymorphisms are associated with type 2 diabetes mellitus risk in the Chinese Han population5
Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts5
Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis5
Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis5
Identification and validation of a novel predictive signature based on hepatocyte-specific genes in hepatocellular carcinoma by integrated analysis of single-cell and bulk RNA sequencing5
Retinoblastoma genetics screening and clinical management5
Construction and evaluation of a prognostic risk model of tumor metastasis-related genes in patients with non-small cell lung cancer5
Asthma and atopic dermatitis as risk factors for rheumatoid arthritis: a bidirectional mendelian randomization study5
CLOCK gene 3’UTR and exon 9 polymorphisms show a strong association with essential hypertension in a North Indian population5
Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history5
lncRNA TUG1 transcript levels and psychological disorders: insights into interplay of glycemic index and glycemic load5
CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated with ischemic stroke in Chinese Han population5
Syndromic ciliopathy: a taiwanese single-center study5
Turning up the heat on non-immunoreactive tumors: autophagy influences the immune microenvironment in pancreatic cancer5
Analysis of molecular epidemiological characteristics and antimicrobial susceptibility of vancomycin-resistant and linezolid-resistant Enterococcus in China5
Cross-ethnic analysis of common gene variants in hemostasis show lopsided representation of global populations in genetic databases5
Direct comparison of the next-generation sequencing and iTERT PCR methods for the diagnosis of TERT hotspot mutations in advanced solid cancers5
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