BMC Medical Genomics

Article	Citations
Genome-wide DNA methylation profiling of CD4+ T lymphocytes identifies differentially methylated loci associated with adult primary refractory immune thrombocytopenia	46
Molecular subtype identification and prognosis stratification based on golgi apparatus-related genes in head and neck squamous cell carcinoma	45
Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study	38
The RNA sequencing results revealed the expression of different genes and signaling pathways during chemotherapy resistance in peripheral T-cell lymphoma	36
Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking	31
Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing	30
Identification of basement membrane-related biomarkers associated with the diagnosis of osteoarthritis based on machine learning	29
Prediction of metabolic syndrome using machine learning approaches based on genetic and nutritional factors: a 14-year prospective-based cohort study	29
Assessment of causal effects of physical activity on the risk of osteoarthritis: a two-sample Mendelian randomization study	28
The association of RBX1 and BAMBI gene expression with oocyte maturation in PCOS women	26
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia	26
m6A regulator-mediated methylation modification patterns and immune microenvironment infiltration characterization in osteoarthritis	26
A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia	25
Contribution of PNPLA3 gene polymorphisms to hepatocellular carcinoma susceptibility in the Chinese Han population	24
Long noncoding RNA UNC5B-AS1 suppresses cell proliferation by sponging miR-24-3p in glioblastoma multiforme	24
Identification of osteoarthritis-characteristic genes and immunological micro-environment features through bioinformatics and machine learning-based approaches	22
Circulating microRNA panels for multi-cancer detection and gastric cancer screening: leveraging a network biology approach	22
Differential enrichment of H3K9me3 in intrahepatic cholangiocarcinoma	21
Identification of mitochondria-related biomarkers in childhood allergic asthma	21
Three nervous system-specific expressed genes are potential biomarkers for the diagnosis of sporadic amyotrophic lateral sclerosis through a bioinformatic analysis	20
Identification of genes and key pathways underlying the pathophysiological association between nonalcoholic fatty liver disease and atrial fibrillation	19
Genomic characterization of methicillin-resistant Staphylococcus aureus isolated from patients attending regional referral hospitals in Tanzania	19
Comprehensive tumor molecular profile analysis in clinical practice	19
FZD1/KLF10-hsa-miR-4762-5p/miR-224-3p-circular RNAs axis as prognostic biomarkers and therapeutic targets for glioblastoma: a comprehensive report	18
ADNP is associated with immune infiltration and radiosensitivity in hepatocellular carcinoma for predicting the prognosis	18

Identification and validation of iron metabolism genes in osteoporosis	17
Identification of the pivotal role of SPP1 in kidney stone disease based on multiple bioinformatics analysis	17
Identification of the miRNA-mRNA regulatory network associated with radiosensitivity in esophageal cancer based on integrative analysis of the TCGA and GEO data	16
Integrative analyses of immune-related biomarkers and associated mechanisms in coronary heart disease	16
Genomic and transcriptional characterization of early esophageal squamous cell carcinoma	16
Genetic polymorphisms of GGT1 gene (rs8135987, rs5751901 and rs2017869) are associated with neoadjuvant chemotherapy efficacy and toxicities in breast cancer patients	16
Prognosis prediction based on methionine metabolism genes signature in gliomas	15
Broadening our understanding of genetic risk for scleroderma/systemic sclerosis by querying the chromatin architecture surrounding the risk haplotypes	15
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 population	15
An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report	15
Analyzing the expression and clinical significance of CENPE in gastric cancer	15
AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness	14
Minimum redundancy maximal relevance gene selection of apoptosis pathway genes in peripheral blood mononuclear cells of HIV-infected patients with antiretroviral therapy-associated mitochondrial toxic	14
Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data	14
Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review	14
A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss	13
MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population	13
A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations	13
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia	13
Generalisation of genomic findings and applications of polygenic risk scores	13
Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review	13
A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family	13
Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda	13
Differential expression of pyroptosis-related genes in the hippocampus of patients with Alzheimer’s disease	12
A family with Milroy disease caused by the FLT4/VEGFR3 gene variant c.2774 T > A	12
Serum metabolite profiling reveals metabolic characteristics of sepsis patients using LC/MS-based metabolic profiles: a cross-sectional study	12
A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure	12
Biomarkers related to m6A and succinic acid metabolism in papillary thyroid carcinoma	12
A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching	12
Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center	12
Mutation spectrum, expression profiling, and prognosis evaluation of Fanconi anemia signaling pathway genes for 4259 patients with myelodysplastic syndromes or acute myeloid leukemia	11
RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects	11
The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures	11
Differential expression of the circadian clock network correlates with tumour progression in gliomas	11
Genetic profile of Chinese patients with small bowel cancer categorized by anatomic location	11
A macrophage related signature for predicting prognosis and drug sensitivity in ovarian cancer based on integrative machine learning	11
Evidence for causal effects of polycystic ovary syndrome on oxidative stress: a two-sample mendelian randomisation study	11
Exploring the clinical and biological significance of the cell cycle-related gene CHMP4C in prostate cancer	11
Specific expression profile of follicular fluid-derived exosomal microRNAs in patients with diminished ovarian reserve	11
Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases	11
Drug-target binding affinity prediction based on power graph and word2vec	11
A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report	11
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets	10
Construction and experimental validation of an acetylation-related gene signature to evaluate the recurrence and immunotherapeutic response in early-stage lung adenocarcinoma	10
Prenatal diagnosis of recurrent Kagami–Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review	10
Associations between (pharmaco-)genetic markers and postoperative pain after inguinal hernia repair – a prospective study protocol	10
Expression profile of long noncoding RNAs and comprehensive analysis of lncRNA-cisTF-DGE regulation in condyloma acuminatum	10
Identification of potential biological processes and key genes in diabetes-related stroke through weighted gene co-expression network analysis	10
Identification of potential diagnostic biomarkers of atherosclerosis based on bioinformatics strategy	10

Effect of ACE, ACE2 and CYP11B2 gene polymorphisms and noise on essential hypertension among steelworkers in China: a case–control study	10
Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population	10
VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer	10
Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification	10
Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach	10
The prognostic significance of ubiquitination-related genes in multiple myeloma by bioinformatics analysis	9
A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report	9
Integration of single-cell sequencing and bulk expression data reveals chemokine signaling pathway in proliferating cells is associated with the survival outcome of osteosarcoma	9
Co-regulated ceRNA network mediated by circRNA and lncRNA in patients with gouty arthritis	9
Development and validation of cuproptosis-related lncRNA signatures for prognosis prediction in colorectal cancer	9
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 variants	9
The genetic landscape of inherited retinal dystrophies in Arabs	9
Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China	9
KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells	9
Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant	9
Interaction, immune infiltration characteristics and prognostic modeling of efferocytosis-related subtypes in glioblastoma	9
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort	9
Comprehensive analysis of ferroptosis-related genes and prognosis of cutaneous melanoma	9
Association of disease severity and genetic variation during primary Respiratory Syncytial Virus infections	9
Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation	9
Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss–Kruszka syndrome	9
Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region	9
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis	8
RETRACTED ARTICLE: A novel necroptosis signature for predicting survival in lung adenocarcinoma	8
Identification of ferroptosis related biomarkers and immune infiltration in Parkinson’s disease by integrated bioinformatic analysis	8
Discovering the interactome, functions, and clinical relevance of enhancer RNAs in kidney renal clear cell carcinoma	8
Development and validation of a novel prognostic signature based on m6A/m5C/m1A-related genes in hepatocellular carcinoma	8
MassARRAY multigene screening combined with LDL-C and sdLDL-C detection for more favorable outcomes in type 2 diabetes mellitus therapy	8
A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report	8
Identification of potential therapeutic targets for atherosclerosis by analysing the gene signature related to different immune cells and immune regulators in atheromatous plaques	8
RNA-seq analysis reveals significant transcriptome changes in huntingtin-null human neuroblastoma cells	8
Ancestry specific associations of a genetic risk score, dietary patterns and metabolic syndrome: a longitudinal ARIC study	8
An exosome mRNA-related gene risk model to evaluate the tumor microenvironment and predict prognosis in hepatocellular carcinoma	8
Correction: Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels	8
Identification of miR-143-3p as a diagnostic biomarker in gastric cancer	8
Identification of sepsis-associated mitochondrial genes through RNA and single-cell sequencing approaches	8
Whole exome sequencing analysis of 167 men with primary infertility	8
Integrated bioinformatics analysis and experimental validation reveal the relationship between ALOX5AP and the prognosis and immune microenvironment in glioma	8
Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations	8
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 dyskinesia	8
Identification and validation of signal recognition particle 14 as a prognostic biomarker predicting overall survival in patients with acute myeloid leukemia	8
HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death	8
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 di	8
Correction: Transcriptome profiling analysis reveals that CXCL2 is involved in anlotinib resistance in human lung cancer cells	8
Comprehensive analysis of the immunogenic cell death-related signature for predicting prognosis and immunotherapy efficiency in patients with lung adenocarcinoma	8
Causal association of epigenetic aging and osteoporosis: a bidirectional Mendelian randomization study	8
Genomic analysis of circulating tumor cells in adenosquamous carcinoma of the prostate: a case report	8
The expression of miR-513c and miR-3163 was downregulated in tumor tissues compared with normal adjacent tissue of patients with breast cancer	8
Inferring miRNA-disease associations using collaborative filtering and resource allocation on a tripartite graph	8
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction	8
Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma	8
Correction: Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene	8
Genome-wide long noncoding RNA and mRNA expression profiles demonstrate associations between exposure to inorganic elements and the risk of developing hepatocellular carcinoma	8
Co-expression in tissue-specific gene networks links genes in cancer-susceptibility loci to known somatic driver genes	7
Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report	7
Consider CUX1 variants in children with a variation of sex development: a case report and review of the literature	7
Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis	7
Investigation of in vitro susceptibility and resistance mechanisms to amikacin among diverse carbapenemase-producing Enterobacteriaceae	7
Proteomic analysis illustrates the potential involvement of dysregulated ribosome-related pathways and disrupted metabolism during retinoic acid-induced cleft palate development	7
Swimming exercise reverses transcriptomic changes in aging mouse lens	7
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 patients	7
Comprehensive research into prognostic and immune signatures of transcription factor family in breast cancer	7
Pancancer analysis of the prognostic and immunological role of FANCD2: a potential target for carcinogenesis and survival	7
Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases	7
Identification of diagnostic model in heart failure with myocardial fibrosis and conduction block by integrated gene co-expression network analysis	7
Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome	7
Frequency of pharmacogenomic variants affecting efficacy and safety of anti-cancer drugs in a south Asian population from Sri Lanka	7
Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review	7
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan	7
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 data	7
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases	7
A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities	7
Major depletion of insulin sensitivity-associated taxa in the gut microbiome of persons living with HIV controlled by antiretroviral drugs	7
Association between miR-30 polymorphism and ischemic stroke in Chinese population	7
GPX8+ cancer-associated fibroblast, as a cancer-promoting factor in lung adenocarcinoma, is related to the immunosuppressive microenvironment	7
Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records	7
Integrated analysis identifies GABRB3 as a biomarker in prostate cancer	7
Comprehensive analysis of BTNL9 as a prognostic biomarker correlated with immune infiltrations in thyroid cancer	6

Multiple metastases of androgen indifferent prostate cancer in the urinary tract: two case reports and a literature review	6
Revealing novel pyroptosis-related therapeutic targets for sepsis based on machine learning	6
Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family	6
Comprehensive analysis reveals the potential value of inflammatory response genes in the prognosis, immunity, and drug sensitivity of lung adenocarcinoma	6
Screening of core genes prognostic for sepsis and construction of a ceRNA regulatory network	6
Exploring the global immune landscape of peripheral blood mononuclear cells in H5N6-infected patient with single-cell transcriptomics	6
Are we there yet? A machine learning architecture to predict organotropic metastases	6
Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria	6
Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation	6
Prognostic signature of esophageal adenocarcinoma based on pyroptosis-related genes	6
A genomic mutation spectrum of collecting duct carcinoma in the Chinese population	6
Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome	6
Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications	6
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 report	6
Proteomic analysis to identification of hypoxia related markers in spinal tuberculosis: a study based on weighted gene co-expression network analysis and machine learning	6
Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic	6
Glioma-BioDP: database for visualization of molecular profiles to improve prognosis of brain cancer	6
Gene co-expression changes underlying the functional connectomic alterations in Alzheimer’s disease	6
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 analysis	6
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study	6
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome	6
Ferroptosis related gene signature in T cell-mediated rejection after kidney transplantation	6
Genetic heterogeneity of cardiomyopathy and its correlation with patient care	6
High level of heterozygous haplotype of hemoglobin in Abidjan population with mild malaria	6
The interactions between dietary fats intake and Caveolin 1 rs 3807992 polymorphism with fat distribution in overweight and obese women: a cross-sectional study	6
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 Disease	6
Rapid screening and identification of viral pathogens in metagenomic data	6
SARS-COV-2 as potential microRNA sponge in COVID-19 patients	6
Identification of immunization-related new prognostic biomarkers for papillary renal cell carcinoma by integrated bioinformatics analysis	6
Genetic liability to obesity and peptic ulcer disease: a Mendelian randomization study	6
Lack of causal association between heart failure and osteoporosis: a Mendelian randomization study	6
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets	6
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence	6
Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects	6
Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review	6
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 family	6
HELLS serves as a poor prognostic biomarker and its downregulation reserves the malignant phenotype in pancreatic cancer	6
Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation	6
Revealing differential expression patterns of piRNA in FACS blood cells of SARS-CoV−2 infected patients	6
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 genes	6
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review	6
A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family	6
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family	6
Selective gene expression profiling contributes to a better understanding of the molecular pathways underlying the histological changes observed after RHMVL	6
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 clusters	5
Blood cell parameters and risk of nonalcoholic fatty liver disease: a comprehensive Mendelian randomization study	5
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 variation	5
GAS6-AS1, a long noncoding RNA, functions as a key candidate gene in atrial fibrillation related stroke determined by ceRNA network analysis and WGCNA	5
Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm	5
Somatic targeted mutation profiling of colorectal cancer precursor lesions	5
A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man	5
Transcriptomic analysis reveals key molecular signatures across recovery phases of hemorrhagic fever with renal syndrome	5
Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation – a case report	5
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review	5
Identification of key genes and pathways in atherosclerosis using integrated bioinformatics analysis	5
Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy	5
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 population	5
Identifying potential pathogenesis and immune infiltration in diabetic foot ulcers using bioinformatics and in vitro analyses	5
Bioinformatics analysis of miR-2861 and miR-5011-5p that function as potential tumor suppressors in colorectal carcinogenesis	5
Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics	5
Revealing platelet-related subtypes and prognostic signature in pancreatic adenocarcinoma	5
FLT4 gene polymorphisms influence isolated ventricular septal defect predisposition in a Southwest China population	5
Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families	5
The noncoding RNAs regulating pyroptosis in colon adenocarcinoma were derived from the construction of a ceRNA network and used to develop a prognostic model	5
A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families	5
Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome	5
New susceptibility alleles associated with severe coronary artery stenosis in the Lebanese population	5
Identification of osteoporosis ferroptosis-related markers and potential therapeutic compounds based on bioinformatics methods and molecular docking technology	5
Identification of a novel autophagy-related prognostic signature and small molecule drugs for glioblastoma by bioinformatics	5
SYNJ2 is a novel and potential biomarker for the prediction and treatment of cancers: from lung squamous cell carcinoma to pan-cancer	5
Identifying hub genes of sepsis-associated and hepatic encephalopathies based on bioinformatic analysis—focus on the two common encephalopathies of septic cirrhotic patients in ICU	5
Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families	5
A pyroptosis-associated signature plays a role in prognosis prediction in clear cell renal cell carcinoma	5
PDX1 and MC4R genetic polymorphisms are associated with type 2 diabetes mellitus risk in the Chinese Han population	5
Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts	5
Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis	5
Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis	5
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 sequencing	5
Retinoblastoma genetics screening and clinical management	5
Construction and evaluation of a prognostic risk model of tumor metastasis-related genes in patients with non-small cell lung cancer	5
Asthma and atopic dermatitis as risk factors for rheumatoid arthritis: a bidirectional mendelian randomization study	5
CLOCK gene 3’UTR and exon 9 polymorphisms show a strong association with essential hypertension in a North Indian population	5
Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history	5
lncRNA TUG1 transcript levels and psychological disorders: insights into interplay of glycemic index and glycemic load	5
CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated with ischemic stroke in Chinese Han population	5
Syndromic ciliopathy: a taiwanese single-center study	5
Turning up the heat on non-immunoreactive tumors: autophagy influences the immune microenvironment in pancreatic cancer	5
Analysis of molecular epidemiological characteristics and antimicrobial susceptibility of vancomycin-resistant and linezolid-resistant Enterococcus in China	5
Cross-ethnic analysis of common gene variants in hemostasis show lopsided representation of global populations in genetic databases	5
Direct comparison of the next-generation sequencing and iTERT PCR methods for the diagnosis of TERT hotspot mutations in advanced solid cancers	5