BMC Medical Genomics

Article	Citations
Molecular subtype identification and prognosis stratification based on golgi apparatus-related genes in head and neck squamous cell carcinoma	50
Genome-wide DNA methylation profiling of CD4+ T lymphocytes identifies differentially methylated loci associated with adult primary refractory immune thrombocytopenia	50
Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study	37
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 non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing	32
Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing	29
Glioma-BioDP: database for visualization of molecular profiles to improve prognosis of brain cancer	26
Identification of basement membrane-related biomarkers associated with the diagnosis of osteoarthritis based on machine learning	26
The genetic landscape of inherited retinal dystrophies in Arabs	25
Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects	25
Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region	24
Assessment of causal effects of physical activity on the risk of osteoarthritis: a two-sample Mendelian randomization study	22
How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?	22
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia	21
m6A regulator-mediated methylation modification patterns and immune microenvironment infiltration characterization in osteoarthritis	21
The association of RBX1 and BAMBI gene expression with oocyte maturation in PCOS women	20
Long noncoding RNA UNC5B-AS1 suppresses cell proliferation by sponging miR-24-3p in glioblastoma multiforme	19
A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia	19
Contribution of PNPLA3 gene polymorphisms to hepatocellular carcinoma susceptibility in the Chinese Han population	19
Identification of osteoarthritis-characteristic genes and immunological micro-environment features through bioinformatics and machine learning-based approaches	19
Circulating microRNA panels for multi-cancer detection and gastric cancer screening: leveraging a network biology approach	17
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	17
Genetic profile of Chinese patients with small bowel cancer categorized by anatomic location	17
Identification of mitochondria-related biomarkers in childhood allergic asthma	16
Specific expression profile of follicular fluid-derived exosomal microRNAs in patients with diminished ovarian reserve	16

Identification of genes and key pathways underlying the pathophysiological association between nonalcoholic fatty liver disease and atrial fibrillation	16
Differential enrichment of H3K9me3 in intrahepatic cholangiocarcinoma	16
Mutation spectrum, expression profiling, and prognosis evaluation of Fanconi anemia signaling pathway genes for 4259 patients with myelodysplastic syndromes or acute myeloid leukemia	16
Three nervous system-specific expressed genes are potential biomarkers for the diagnosis of sporadic amyotrophic lateral sclerosis through a bioinformatic analysis	16
Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases	16
Identification and validation of iron metabolism genes in osteoporosis	15
Genomic and transcriptional characterization of early esophageal squamous cell carcinoma	15
Comprehensive tumor molecular profile analysis in clinical practice	15
FZD1/KLF10-hsa-miR-4762-5p/miR-224-3p-circular RNAs axis as prognostic biomarkers and therapeutic targets for glioblastoma: a comprehensive report	15
Genetic polymorphisms of GGT1 gene (rs8135987, rs5751901 and rs2017869) are associated with neoadjuvant chemotherapy efficacy and toxicities in breast cancer patients	15
Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?	14
Association of MBL2 gene polymorphisms and MBL levels with dilated cardiomyopathy in a Chinese Han population	14
Analyzing the expression and clinical significance of CENPE in gastric cancer	14
Integrative analyses of immune-related biomarkers and associated mechanisms in coronary heart disease	14
Prognosis prediction based on methionine metabolism genes signature in gliomas	14
Broadening our understanding of genetic risk for scleroderma/systemic sclerosis by querying the chromatin architecture surrounding the risk haplotypes	14
Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review	13
An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report	13
Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review	13
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	13
Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data	13
A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations	13
AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness	13
Generalisation of genomic findings and applications of polygenic risk scores	12
A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family	12
MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population	12
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia	12
Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda	12
A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss	12
Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center	11
A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching	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
Serum metabolite profiling reveals metabolic characteristics of sepsis patients using LC/MS-based metabolic profiles: a cross-sectional study	11
SARS-COV-2 as potential microRNA sponge in COVID-19 patients	11
Drug-target binding affinity prediction based on power graph and word2vec	11
Whole exome sequencing analysis of 167 men with primary infertility	11
A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure	11
A family with Milroy disease caused by the FLT4/VEGFR3 gene variant c.2774 T > A	11
Biomarkers related to m6A and succinic acid metabolism in papillary thyroid carcinoma	11
Differential expression of the circadian clock network correlates with tumour progression in gliomas	11
Identification of sepsis-associated mitochondrial genes through RNA and single-cell sequencing approaches	11
Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population	10
Construction and experimental validation of an acetylation-related gene signature to evaluate the recurrence and immunotherapeutic response in early-stage lung adenocarcinoma	10
The prognostic significance of ubiquitination-related genes in multiple myeloma by bioinformatics analysis	10
Discovering the interactome, functions, and clinical relevance of enhancer RNAs in kidney renal clear cell carcinoma	10
Prenatal diagnosis of recurrent Kagami–Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review	10
VNTR polymorphism in the breakpoint region of ABL1 and susceptibility to bladder cancer	10
Expression profile of long noncoding RNAs and comprehensive analysis of lncRNA-cisTF-DGE regulation in condyloma acuminatum	10
Associations between (pharmaco-)genetic markers and postoperative pain after inguinal hernia repair – a prospective study protocol	10

Identification of potential biological processes and key genes in diabetes-related stroke through weighted gene co-expression network analysis	10
Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach	10
Effect of ACE, ACE2 and CYP11B2 gene polymorphisms and noise on essential hypertension among steelworkers in China: a case–control study	10
Comprehensive analysis of ferroptosis-related genes and prognosis of cutaneous melanoma	10
Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification	10
Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China	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
Differential expression of pyroptosis-related genes in the hippocampus of patients with Alzheimer’s disease	9
A macrophage related signature for predicting prognosis and drug sensitivity in ovarian cancer based on integrative machine learning	9
A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report	9
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort	9
Interaction, immune infiltration characteristics and prognostic modeling of efferocytosis-related subtypes in glioblastoma	9
RETRACTED ARTICLE: A novel necroptosis signature for predicting survival in lung adenocarcinoma	9
The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures	9
Identification of ferroptosis related biomarkers and immune infiltration in Parkinson’s disease by integrated bioinformatic analysis	9
Development and validation of cuproptosis-related lncRNA signatures for prognosis prediction in colorectal cancer	9
KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells	9
Co-regulated ceRNA network mediated by circRNA and lncRNA in patients with gouty arthritis	9
Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant	9
Causal association of epigenetic aging and osteoporosis: a bidirectional Mendelian randomization study	9
RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects	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
Gene co-expression changes underlying the functional connectomic alterations in Alzheimer’s disease	8
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome	8
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	8
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)	8
Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report	8
Consider CUX1 variants in children with a variation of sex development: a case report and review of the literature	8
Identification of miR-143-3p as a diagnostic biomarker in gastric cancer	8
Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome	8
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan	8
A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities	8
RNA-seq analysis reveals significant transcriptome changes in huntingtin-null human neuroblastoma cells	8
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence	8
Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic	8
Major depletion of insulin sensitivity-associated taxa in the gut microbiome of persons living with HIV controlled by antiretroviral drugs	8
Co-expression in tissue-specific gene networks links genes in cancer-susceptibility loci to known somatic driver genes	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
Association between miR-30 polymorphism and ischemic stroke in Chinese population	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
Genomic analysis of circulating tumor cells in adenosquamous carcinoma of the prostate: a case report	8
Genetic liability to obesity and peptic ulcer disease: a Mendelian randomization study	8
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets	8
Revealing novel pyroptosis-related therapeutic targets for sepsis based on machine learning	8
Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis	8
Comprehensive research into prognostic and immune signatures of transcription factor family in breast cancer	8
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases	8
Correction: Transcriptome profiling analysis reveals that CXCL2 is involved in anlotinib resistance in human lung cancer cells	8
Identification of diagnostic model in heart failure with myocardial fibrosis and conduction block by integrated gene co-expression network analysis	8
Lack of causal association between heart failure and osteoporosis: a Mendelian randomization study	8
Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases	8
Selective gene expression profiling contributes to a better understanding of the molecular pathways underlying the histological changes observed after RHMVL	8
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family	7
Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA)	7
Swimming exercise reverses transcriptomic changes in aging mouse lens	7
GPX8+ cancer-associated fibroblast, as a cancer-promoting factor in lung adenocarcinoma, is related to the immunosuppressive microenvironment	7
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	7
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis	7
Identification of potential therapeutic targets for atherosclerosis by analysing the gene signature related to different immune cells and immune regulators in atheromatous plaques	7
Rapid screening and identification of viral pathogens in metagenomic data	7
A genomic mutation spectrum of collecting duct carcinoma in the Chinese population	7
Ferroptosis related gene signature in T cell-mediated rejection after kidney transplantation	7
Multiple metastases of androgen indifferent prostate cancer in the urinary tract: two case reports and a literature review	7
Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation	7
Comment on Balsamo et al.: “Birt–Hogg–Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature”	7
Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review	7
Proteomic analysis illustrates the potential involvement of dysregulated ribosome-related pathways and disrupted metabolism during retinoic acid-induced cleft palate development	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
Inferring miRNA-disease associations using collaborative filtering and resource allocation on a tripartite graph	7
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review	7
High level of heterozygous haplotype of hemoglobin in Abidjan population with mild malaria	7
Proteomic analysis to identification of hypoxia related markers in spinal tuberculosis: a study based on weighted gene co-expression network analysis and machine learning	7
Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family	7
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study	7
Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation	7
Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications	7
Diverse cardiac phenotypes among different carriers of the same MYH7 splicing variant allele (c.732+1G>A) from a family	7
Frequency of pharmacogenomic variants affecting efficacy and safety of anti-cancer drugs in a south Asian population from Sri Lanka	7

Integrated analysis identifies GABRB3 as a biomarker in prostate cancer	7
Pancancer analysis of the prognostic and immunological role of FANCD2: a potential target for carcinogenesis and survival	7
Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma	7
Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records	7
Are we there yet? A machine learning architecture to predict organotropic metastases	7
Comprehensive analysis reveals the potential value of inflammatory response genes in the prognosis, immunity, and drug sensitivity of lung adenocarcinoma	7
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)	7
Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review	6
Identification of breast cancer subgroups and immune characterization based on glutamine metabolism-related genes	6
Comprehensive analysis of BTNL9 as a prognostic biomarker correlated with immune infiltrations in thyroid cancer	6
Cross-ethnic analysis of common gene variants in hemostasis show lopsided representation of global populations in genetic databases	6
The expression of miR-513c and miR-3163 was downregulated in tumor tissues compared with normal adjacent tissue of patients with breast cancer	6
Ancestry specific associations of a genetic risk score, dietary patterns and metabolic syndrome: a longitudinal ARIC study	6
Methylation patterns of the nasal epigenome of hospitalized SARS-CoV-2 positive patients reveal insights into molecular mechanisms of COVID-19	6
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction	6
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets	6
Somatic targeted mutation profiling of colorectal cancer precursor lesions	6
ADNP is associated with immune infiltration and radiosensitivity in hepatocellular carcinoma for predicting the prognosis	6
Biochemical markers and FokI and TaqI vitamin D receptor genes polymorphism in rheumatoid arthritis	6
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia	6
Transcriptomic analysis reveals key molecular signatures across recovery phases of hemorrhagic fever with renal syndrome	6
A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family	6
Identification of the pivotal role of SPP1 in kidney stone disease based on multiple bioinformatics analysis	6
Association of metabolic dysregulation with treatment response in rectal cancer patients undergoing chemoradiotherapy	6
Direct comparison of the next-generation sequencing and iTERT PCR methods for the diagnosis of TERT hotspot mutations in advanced solid cancers	6
Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review	6
Exploring diagnostic m6A regulators in primary open-angle glaucoma: insight from gene signature and possible mechanisms by which key genes function	6
Prognostic signature of esophageal adenocarcinoma based on pyroptosis-related genes	6
A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report	6
Association of ZC3HAV1 single nucleotide polymorphisms with the susceptibility of Vogt-Koyanagi-Harada Disease	6
Screening of core genes prognostic for sepsis and construction of a ceRNA regulatory network	6
Gene S-phase kinase associated protein 2 is a novel prognostic marker in human neoplasms	6
Identification and validation of signal recognition particle 14 as a prognostic biomarker predicting overall survival in patients with acute myeloid leukemia	6
Integrated bioinformatics analysis and experimental validation reveal the relationship between ALOX5AP and the prognosis and immune microenvironment in glioma	6
A systematic review and meta-analysis on antibiotic resistance genes in Ghana	6
A genome-wide association study of methamphetamine use among people with HIV	6
Comprehensive analysis of the immunogenic cell death-related signature for predicting prognosis and immunotherapy efficiency in patients with lung adenocarcinoma	6
Identification of key genes and pathways in atherosclerosis using integrated bioinformatics analysis	6
Prediction of metabolic syndrome using machine learning approaches based on genetic and nutritional factors: a 14-year prospective-based cohort study	6
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy	6
Investigation of in vitro susceptibility and resistance mechanisms to amikacin among diverse carbapenemase-producing Enterobacteriaceae	6
ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family case report	6
Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm	6
Bioinformatics identification and validation of pyroptosis-related gene for ischemic stroke	6
Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families	6
Novel polymorphisms in CYP4A22 associated with susceptibility to coronary heart disease	6
Unravelling the transcriptomic characteristics of bronchoalveolar lavage in post-covid pulmonary fibrosis	6
Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome	6
Genomic characterization of methicillin-resistant Staphylococcus aureus isolated from patients attending regional referral hospitals in Tanzania	6
A pyroptosis-associated signature plays a role in prognosis prediction in clear cell renal cell carcinoma	6
Association of disease severity and genetic variation during primary Respiratory Syncytial Virus infections	6
Correction: Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene	6
HBV genome-enriched single cell sequencing revealed heterogeneity in HBV-driven hepatocellular carcinoma (HCC)	6
Lipid-lowering drugs and risk of rapid renal function decline: a mendelian randomization study	6
Inherited rare epidermal growth factor receptor mutation and somatic mutations in patients with non-small cell lung cancer: a case report	6
Development and validation of a novel prognostic signature based on m6A/m5C/m1A-related genes in hepatocellular carcinoma	6
CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated with ischemic stroke in Chinese Han population	6
Identification of potential diagnostic biomarkers of atherosclerosis based on bioinformatics strategy	6
USP2 reversed cisplatin resistance through p53-mediated ferroptosis in NSCLC	6
Identification of key regulatory genes and their working mechanisms in type 1 diabetes	6
Identification of the miRNA-mRNA regulatory network associated with radiosensitivity in esophageal cancer based on integrative analysis of the TCGA and GEO data	6
Asthma and atopic dermatitis as risk factors for rheumatoid arthritis: a bidirectional mendelian randomization study	6
Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria	6
Integration of single-cell sequencing and bulk expression data reveals chemokine signaling pathway in proliferating cells is associated with the survival outcome of osteosarcoma	6
Identification of immunization-related new prognostic biomarkers for papillary renal cell carcinoma by integrated bioinformatics analysis	6
Molecular epidemiology of SARS-CoV-2 isolated from COVID-19 family clusters	6
Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders	5
A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families	5
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review	5
Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics	5
Identification of osteoporosis ferroptosis-related markers and potential therapeutic compounds based on bioinformatics methods and molecular docking technology	5
Analysis of molecular epidemiological characteristics and antimicrobial susceptibility of vancomycin-resistant and linezolid-resistant Enterococcus in China	5
Mendelian randomization indicates that atopic dermatitis contributes to the occurrence of diabetes	5
The frequency of the known mitochondrial variants associated with drug-induced toxicity in a Korean population	5
Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis	5
Attenuated clinical and osteoclastic phenotypes of Paget’s disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene	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 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
Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families	5
Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis	5
NKX2-5 variants screening in patients with atrial septal defect in Indonesia	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
An association study of IL2RA polymorphisms with cerebral palsy in a Chinese population	5
Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review	5
Molecular profiling of basal cell carcinomas in young patients	5
Revealing differential expression patterns of piRNA in FACS blood cells of SARS-CoV−2 infected patients	5
Inflammation and neuronal gene expression changes differ in early versus late chronic traumatic encephalopathy brain	5
Whole-exome sequencing uncovers the genetic basis of hereditary concomitant exotropia in ten Chinese pedigrees	5
SYNJ2 is a novel and potential biomarker for the prediction and treatment of cancers: from lung squamous cell carcinoma to pan-cancer	5
Bioinformatics analysis of miR-2861 and miR-5011-5p that function as potential tumor suppressors in colorectal carcinogenesis	5
Syndromic ciliopathy: a taiwanese single-center study	5
Alterations of DNA methylation and expression of genes related to thyroid hormone metabolism in colon epithelium of obese patients	5
Association between venous thromboembolism and atrial fibrillation: a Mendelian randomization study	5
Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome	5
Label propagation-based semi-supervised feature selection on decoding clinical phenotypes with RNA-seq data	5