BMC Medical Genomics

Article	Citations
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases	144
Comprehensive analysis of the immunogenic cell death-related signature for predicting prognosis and immunotherapy efficiency in patients with lung adenocarcinoma	63
ADNP is associated with immune infiltration and radiosensitivity in hepatocellular carcinoma for predicting the prognosis	54
Comprehensive analysis reveals the potential value of inflammatory response genes in the prognosis, immunity, and drug sensitivity of lung adenocarcinoma	45
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets	37
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)	30
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan	28
Correction: Transcriptome profiling analysis reveals that CXCL2 is involved in anlotinib resistance in human lung cancer cells	26
Integrated bioinformatics analysis and experimental validation reveal the relationship between ALOX5AP and the prognosis and immune microenvironment in glioma	26
KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells	25
Interaction, immune infiltration characteristics and prognostic modeling of efferocytosis-related subtypes in glioblastoma	25
The prognostic significance of ubiquitination-related genes in multiple myeloma by bioinformatics analysis	24
Analyzing the expression and clinical significance of CENPE in gastric cancer	24
AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness	23
Identification of diagnostic model in heart failure with myocardial fibrosis and conduction block by integrated gene co-expression network analysis	23
Identification of miR-143-3p as a diagnostic biomarker in gastric cancer	23
Identification of potential biomarkers and mechanisms for keloid disorder based on comprehensive bioinformatics analysis and machine learning algorithms	22
Single-cell sequencing-based analysis of CD4 + T-cell and B-cell heterogeneity in patients with lupus nephritis	21
Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review	21
Mutation spectrum, expression profiling, and prognosis evaluation of Fanconi anemia signaling pathway genes for 4259 patients with myelodysplastic syndromes or acute myeloid leukemia	20
Drug-target binding affinity prediction based on power graph and word2vec	20
Palmitoylation remodeling dictates HCC heterogeneity: implications for subtype-specific prognostication and targeting the YAP-RhoA axis	20
Quantifying the utility of type 2 diabetes polygenic risk score for predicting incident diabetes: an analysis of large US-based cohort studies	19
A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1	18
Identification of potential diagnostic biomarkers of atherosclerosis based on bioinformatics strategy	18

Antibiotic resistance genes circulating in Nigeria: a systematic review and meta-analysis from the One Health perspective	18
Genomic characterization of methicillin-resistant Staphylococcus aureus isolated from patients attending regional referral hospitals in Tanzania	18
Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy	18
Long-term safety and efficacy of triheptanoin in Korean patients with long-chain fatty acid oxidation disorders: a prospective, open-label, single-center, phase II clinical study	18
CLOCK gene 3’UTR and exon 9 polymorphisms show a strong association with essential hypertension in a North Indian population	17
Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome	17
Exploring diagnostic m6A regulators in primary open-angle glaucoma: insight from gene signature and possible mechanisms by which key genes function	17
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning	16
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis	16
A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review	16
Turning up the heat on non-immunoreactive tumors: autophagy influences the immune microenvironment in pancreatic cancer	16
Genetic analysis of partial duplication of the long arm of chromosome 16	16
Genetic contribution of caspase-8 variants and haplotypes to breast cancer risk and prognosis: a case-control study in Iran	16
A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family	15
Distinct genetic architecture of coronary heart disease in dyslipidemia patients	15
Biochemical markers and FokI and TaqI vitamin D receptor genes polymorphism in rheumatoid arthritis	15
Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review	15
Epigenetic age acceleration is associated with blood lipid levels in a multi-ancestry sample of older U.S. adults	15
Novel EP300 and NSD1 variants in Chinese pediatric patients with Rubinstein-Taybi syndrome: evidence for oligogenic inheritance and phenotypic expansion	15
Somatic targeted mutation profiling of colorectal cancer precursor lesions	15
Basement membrane-related regulators for prediction of prognoses and responses to diverse therapies in hepatocellular carcinoma	14
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia	14
CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case–control study	14
Mutational landscape of pan-cancer patients with PIK3CA alterations in Chinese population	14
Analysis of REST binding sites with canonical and non-canonical motifs in human cell lines	14
Revealing platelet-related subtypes and prognostic signature in pancreatic adenocarcinoma	14
Network proximity analysis as a theoretical model for identifying potential novel therapies in primary sclerosing cholangitis	14
Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women	13
Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss	13
Elucidating the mechanisms of bisphenols-induced male spermatogenesis disorder via network toxicology, molecular docking and bioinformatics	13
CYP19A1 promotes gastric cancer as part of a lipid metabolism-related gene signature related to the response of immunotherapy and prognosis	13
Effects and associated transcriptomic landscape changes of methamphetamine on immune cells	13
Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China	13
AVPR2 is a potential prognostic biomarker and correlated with immune infiltration in head and neck squamous cell carcinoma	13
Key m6A regulators mediated methylation modification pattern and immune infiltration characterization in hepatic ischemia-reperfusion injury	13
Detection and identification of Naegleria species along with Naegleria fowleri in the tap water samples	13
Integrated analysis of tumor-associated macrophages and M2 macrophages in CRC: unraveling molecular heterogeneity and developing a novel risk signature	13
Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review	13
Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders	13
Expression analysis of LINC00671 and LINC01913 long non-coding RNAs in gastric cancer patients and their correlation with EMT markers	13
Causal effects between circulating immune cells and heart failure: evidence from a bidirectional Mendelian randomization study	13
Unveiling the role of miR-137-3p/miR-296-5p/SERPINA3 signaling in colorectal cancer progression: integrative analysis of gene expression profiles and in vitro studies	13
Integration analysis of lncRNA and mRNA expression data identifies DOCK4 as a potential biomarker for elderly osteoporosis	13
Case-control study on CYP4B1 gene polymorphism and susceptibility to gastric cancer in the chinese Han population	13
Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations	12
Identification of necroptosis-related gene TRAF5 as potential target of diagnosing atherosclerosis and assessing its stability	12
The role of Neanderthal introgression in liver cancer	12
Identification and validation of the cellular senescence-associated molecular pattern and diagnostic markers for osteoporosis	12
Identification and analysis of MSC-Exo-derived LncRNAs related to the regulation of EMT in hypospadias	12
Inflammatory response-based prognostication and personalized therapy decisions in clear cell renal cell cancer to aid precision oncology	12

Retinoblastoma gene expression profiling based on bioinformatics analysis	12
Comprehensive bioinformatic analysis of the expression and prognostic significance of TSC22D domain family genes in adult acute myeloid leukemia	12
A randomized trial evaluating the association between related gene polymorphism and nausea and vomiting induced by cisplatin multi-day chemotherapy	12
Quality control recommendations for RNASeq using FFPE samples based on pre-sequencing lab metrics and post-sequencing bioinformatics metrics	12
Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant	12
Construction and function analysis of the LncRNA-miRNA-mRNA competing endogenous RNA network in autoimmune hepatitis	12
lncRNA-MIAT rs9625066 polymorphism could be a potential biomarker for ischemic stroke	12
Construction of 11 metabolic-related lncRNAs to predict the prognosis in lung adenocarcinoma	12
Fatty acid metabolism in ischemic stroke: multi-omics biomarker discovery and therapeutic potential of GPR84	12
Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes	12
Associative gene networks reveal novel candidates important for ADHD and dyslexia comorbidity	12
Genetic analysis of a pedigree with MECP2 duplication syndrome in China	12
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review	11
The influence of Nrf2 gene promoter methylation on gene expression and oxidative stress parameters in preeclampsia	11
Biomarker prediction in autism spectrum disorder using a network-based approach	11
Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China	11
Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing	11
Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons	11
Identification of DNA methylation characteristics associated with metastasis and prognosis in colorectal cancer	11
Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability	11
Identifying genetic markers enriched by brain imaging endophenotypes in Alzheimer’s disease	11
BNIPL is a promising biomarker of laryngeal cancer: novel insights from bioinformatics analysis and experimental validation	11
Shared molecular signatures between atrial fibrillation and chronic obstructive pulmonary disease: an integrated bioinformatic analysis with experimental validation	11
A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV	11
A retrospective analysis of MS/MS screening for IEM in high-risk areas	11
RNA-seq reveals differentially expressed lncRNAs and circRNAs and their associated functional network in HTR-8/Svneo cells under hypoxic conditions	11
Correction: Genomic profiling of sporadic multiple meningiomas	11
Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review	11
Characterizing core outcomes of responsible stewardship for human genomic data in the cloud	11
Bioinformatics screening of colorectal-cancer causing molecular signatures through gene expression profiles to discover therapeutic targets and candidate agents	10
Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis	10
CXCR3 predicts the prognosis of endometrial adenocarcinoma	10
Variant-to-function dissection of the 17q21.31 locus resolves ANKRD1 as a convergent regulatory target	10
A hypoxia–glycolysis–lactate-related gene signature for prognosis prediction in hepatocellular carcinoma	10
Glycosyltransferase GLT8D1 and GLT8D2 serve as potential prognostic biomarkers correlated with Tumor Immunity in Gastric Cancer	10
Test development, optimization and validation of a WGS pipeline for genetic disorders	10
Correction: Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing	10
Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome	10
Transcriptomic analysis reveals pathophysiological relationship between chronic obstructive pulmonary disease (COPD) and periodontitis	10
Potential miRNA-gene interactions determining progression of various ATLL cancer subtypes after infection by HTLV-1 oncovirus	10
Identification of molecular subgroups in osteomyelitis induced by staphylococcus aureus infection through gene expression profiles	10
Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis	10
Influence of pharmacogenomic polymorphisms on allopurinol-induced cutaneous adverse drug reactions in Thai patients	10
Identification of four TTN variants in three families with fetal akinesia deformation sequence	10
Dynamic clustering of genomics cohorts beyond race, ethnicity—and ancestry	10
A novel DNA damage repair gene-related prognostic model for evaluating the prognosis and tumor microenvironment infiltration of esophageal squamous cell carcinoma	10
Nine dietary habits and risk of colorectal cancer: a Mendelian randomization study	10
Despite low viral titer in saliva samples, Sanger-based SARS-CoV-2 spike gene sequencing is highly applicable for the variant identification	10
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis	10
Genetic study of the causal effect of lipid profiles on insomnia risk: a Mendelian randomization trial	10
Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1	10
Genetic targets related to aging for the treatment of coronary artery disease	10
A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics	10
Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study	10
Associations of the gut microbiome and cardiometabolic risk in adolescence: the HOME study	9
Diagnostic accuracy of circular RNA for diabetes Mellitus: a systematic review and diagnostic Meta-analysis	9
Proteomic analysis of lysine 2-hydroxyisobutyryl in SLE reveals protein modification alteration in complement and coagulation cascades and platelet activation Pathways	9
New insight into the development of synpolydactyly caused by expansion of HOXD13 polyalanine based on weighted gene co-expression network analysis	9
Single-cell RNA sequencing of adenoid cystic carcinoma of the breast reveals cellular heterogeneity and tumor microenvironment features	9
Tumorigenic role of Pak4 in ovarian cancer and its correlation with immune infiltration	9
Comprehensive analysis of the expression, prognostic, and immune infiltration for COL4s in stomach adenocarcinoma	9
Transcriptome sequencing reveals regulatory genes associated with neurogenic hearing loss	9
Integrated analysis and exploration of potential shared gene signatures between carotid atherosclerosis and periodontitis	9
A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis	9
A pyroptosis-related gene signature provides an alternative for predicting the prognosis of patients with hepatocellular carcinoma	9
Advances in research on circadian rhythms and colorectal cancer	9
From gene to heart: the impact of a novel SGCD variant in familial dilated cardiomyopathy	9
Targeting RECQL4 in hepatocellular carcinoma: from prognosis to therapeutic potential	9
Bioinformatics analysis identifies potential hub genes and crucial pathways in the pathogenesis of asthenozoospermia	9
Serum miR-141-3p serves as a biomarker for early-stage diagnosis of endometriosis	9
Expression alteration of serum exosomal circular RNAs in obstructive sleep apnea patients with acute myocardial infarction	9
Causal effects of gut microbiome on autoimmune liver disease: a two-sample Mendelian randomization study	9
Comparison of methylation estimates obtained via MinION nanopore sequencing and sanger bisulfite sequencing in the TRPA1 promoter region	9
Ultra-sensitive molecular detection of gene fusions from RNA using ASPYRE	9
Heterogeneity study on MiRNA expression in islet cells of rat pancreatic head and tail	9
Identification of a novel FGF3 variant and a new phenotype in three LAMM syndrome families	9
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing	9
Association of CYP3A5 rs15524 and CYP3A7 rs776744 polymorphisms on tac IPV and clinical outcomes in early post-heart transplantation	9
Multi-omics single-cell dissection of malignant epithelial heterogeneity identifies GJB2 as an EMT-driving biomarker in triple-negative breast cancer	9
Subcutaneous adipose tissue alteration in aging process associated with thyroid hormone signaling	9

Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease	9
Identification of immune-related biomarkers and construction of regulatory network in patients with atherosclerosis	9
NQO1 polymorphism and susceptibility to ischemic stroke in a Chinese population	9
Association of gastric inhibitory polypeptide receptor (GIPR) gene polymorphism with type 2 diabetes mellitus in iranian patients	9
Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGS	9
Effects of major depression and bipolar disorder on erectile dysfunction: a two-sample mendelian randomization study	9
Early contribution of germline and nevi genetic alterations to a rapidly-progressing cutaneous melanoma patient: a case report	9
Predictive significance of glycolysis-associated lncRNA profiles in colorectal cancer progression	9
Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis	9
Construction and validation of a metabolism-associated gene signature for predicting the prognosis, immune landscape, and drug sensitivity in bladder cancer	9
Transcriptomic profiling of DYT-TOR1A patients-derived iPSC reveals dysregulation in extracellular matrix, lipid metabolism, and Chr22q11.23	8
The implementation of Next-Generation Sequencing (NGS) in a Brazilian Public Hospital: a systematic review of challenges and perspectives in oncology	8
Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study	8
A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome	8
Effects of different temperatures on chondrocyte growth: a transcriptomic analysis	8
A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures	8
Genomic and transcriptional characterization of early esophageal squamous cell carcinoma	8
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study	8
Association of disease severity and genetic variation during primary Respiratory Syncytial Virus infections	8
Differential expression of the circadian clock network correlates with tumour progression in gliomas	8
Identification of ferroptosis related biomarkers and immune infiltration in Parkinson’s disease by integrated bioinformatic analysis	8
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus	8
Inflammation and neuronal gene expression changes differ in early versus late chronic traumatic encephalopathy brain	8
An exosome mRNA-related gene risk model to evaluate the tumor microenvironment and predict prognosis in hepatocellular carcinoma	8
Revealing novel pyroptosis-related therapeutic targets for sepsis based on machine learning	8
Genome-wide DNA methylation profiling of CD4+ T lymphocytes identifies differentially methylated loci associated with adult primary refractory immune thrombocytopenia	8
Transcriptomic analysis delineates preterm prelabor rupture of membranes from preterm labor in preterm fetal membranes	8
A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing	8
Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting	8
Prognosis and biological function of SGOL1 in clear cell renal cell carcinoma: a multiomics analysis	8
Study on the mechanism of BGN in progression and metastasis of ccRCC	8
Whole exome sequencing analysis of 167 men with primary infertility	8
Transcriptomic and proteomic analysis of osteogenesis imperfecta disease-specific induced pluripotent stem cells	8
A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis	8
Identification of a novel lymphangiogenesis signature associated with immune cell infiltration in colorectal cancer based on bioinformatics analysis	8
Elevated expression of APOO as a potential prognostic marker in breast cancer: insights from bioinformatic analysis and experimental validation	8
Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review	8
Defining an approach to empower clinical geneticists to do genomic reanalysis	8
Epigenomic signatures of accelerated epigenetic aging are associated with congenital heart disease in newborns	8
The role of TEAD4 gene in the Hippo signaling pathway in triple-negative breast cancer and targeted therapy strategies	8
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family	8
A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching	8
Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome	8
Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts	8
A novel mutation in SORD gene associated with distal hereditary motor neuropathies	8
Identification of mitochondria-related biomarkers in childhood allergic asthma	8
Integration of single-cell sequencing and bulk expression data reveals chemokine signaling pathway in proliferating cells is associated with the survival outcome of osteosarcoma	8
HBV genome-enriched single cell sequencing revealed heterogeneity in HBV-driven hepatocellular carcinoma (HCC)	8
The mitochondrial hub gene UCHL1 May serve as a potential biomarker for diagnosing diabetic cardiomyopathy: a comprehensive integration of biological pathways	8
Association between venous thromboembolism and atrial fibrillation: a Mendelian randomization study	8
Machine learning-based screening and validation of pyroptosis-associated prognostic genes and potential drugs in cervical cancer	8
GPX8+ cancer-associated fibroblast, as a cancer-promoting factor in lung adenocarcinoma, is related to the immunosuppressive microenvironment	8
A pyroptosis-associated signature plays a role in prognosis prediction in clear cell renal cell carcinoma	8
Discovering the interactome, functions, and clinical relevance of enhancer RNAs in kidney renal clear cell carcinoma	8
Exploring an immune cells-related molecule in STEMI by bioinformatics analysis	7
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population	7
Filaggrin gene variants among Saudi patients with ichthyosis vulgaris	7
Association of CYP19 gene SNPs (rs7176005 and rs6493497) with polycystic ovary syndrome susceptibility in Northern Chinese women	7
A lipid metabolism-related gene signature predicts prognosis after tamoxifen treatment in ER + breast cancer and reflects tumor microenvironment heterogeneity through single-cell analysis	7
Association of Calpain-10 gene polymorphisms with Type 2 diabetes mellitus: a case-control study from a tertiary care hospital in Pakistan	7
Custom gene expression panel for evaluation of potential molecular markers in hepatocellular carcinoma	7
Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay	7
Alcohol exposure significantly influences gene expression in the hypothalamus, highlighting complex links with gonadotropin-releasing hormone signaling and thyroid hormone production in adolescent mic	7
Association of HLA-DRB1*11 and HLA-DRB1*12 gene polymorphism with COVID-19 in Burkina Faso	7
Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant	7
Integrated multi-omic analysis and experiment reveals the role of endoplasmic reticulum stress in lung adenocarcinoma	7
The role of NOS3-rs1799983 and NOS3- rs2070744 SNP in occurrence of avascular necrosis as a post COVID-19 complication	7
Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia	7
Case report: response to immunotherapy and association with the fh gene in hereditary leiomyomatosis and renal cell cancer-associated renal cell cancer	7
Causal relationship between educational attainment and the occurrence of venous thromboembolism	7
Proteomics analysis of chronic skin injuries caused by mustard gas	7
A systematic analysis of deep learning in genomics and histopathology for precision oncology	7
Expression profile and prognostic values of LSM family in skin cutaneous melanoma	7
Identification and validation of immune-related biomarkers and potential regulators and therapeutic targets for diabetic kidney disease	7
Analysis of molecular epidemiological characteristics and antimicrobial susceptibility of vancomycin-resistant and linezolid-resistant Enterococcus in China	7
Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss	7
Evaluation of a biomarker for amyotrophic lateral sclerosis derived from a hypomethylated DNA signature of human motor neurons	7
Assessing the causal associations of sleep apnea with mental health and socioeconomic status: a bidirectional two-sample Mendelian randomization	7
Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing	7
A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family	7
Genotypic and phenotypic spectrum of PRRT2-related variations: clinical analysis and treatment response in fourteen unrelated Chinese patients	7
A link between mitochondrial damage and the immune microenvironment of delayed onset muscle soreness	7
Changes in expression levels of erythrocyte and immune-related genes are associated with high altitude polycythemia	7
Case report: genetic analysis of a child with 18q deletion syndrome and developmental dysplasia of the hip	7
Transcriptomics-based exploration of ubiquitination-related biomarkers and potential molecular mechanisms in laryngeal squamous cell carcinoma	7
Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing	7
XGBCDA: a multiple heterogeneous networks-based method for predicting circRNA-disease associations	7
Shared etiology of Mendelian and complex disease supports drug discovery	7
CASC15 participated in the damage of vascular endothelial cells in atherosclerosis through interaction with miR-940	7
Genomic characteristics and prognostic correlations in Chinese multiple myeloma patients	7
Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients	7
Development of a clinical metagenomics workflow for the diagnosis of wound infections	7
An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration	7
De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia	7
Mendelian randomization indicates that atopic dermatitis contributes to the occurrence of diabetes	7