BMC Medical Genomics

Article	Citations
KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells	55
AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness	53
Identification of miR-143-3p as a diagnostic biomarker in gastric cancer	51
Genomic analysis of circulating tumor cells in adenosquamous carcinoma of the prostate: a case report	39
Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation	36
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
Comprehensive analysis reveals the potential value of inflammatory response genes in the prognosis, immunity, and drug sensitivity of lung adenocarcinoma	28
Genomic characterization of methicillin-resistant Staphylococcus aureus isolated from patients attending regional referral hospitals in Tanzania	27
Correction: Transcriptome profiling analysis reveals that CXCL2 is involved in anlotinib resistance in human lung cancer cells	26
Drug-target binding affinity prediction based on power graph and word2vec	25
ADNP is associated with immune infiltration and radiosensitivity in hepatocellular carcinoma for predicting the prognosis	24
Identification of diagnostic model in heart failure with myocardial fibrosis and conduction block by integrated gene co-expression network analysis	23
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases	23
Integrated bioinformatics analysis and experimental validation reveal the relationship between ALOX5AP and the prognosis and immune microenvironment in glioma	21
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan	20
Mutation spectrum, expression profiling, and prognosis evaluation of Fanconi anemia signaling pathway genes for 4259 patients with myelodysplastic syndromes or acute myeloid leukemia	20
Comprehensive analysis of the immunogenic cell death-related signature for predicting prognosis and immunotherapy efficiency in patients with lung adenocarcinoma	19
Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review	19
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets	19
Analyzing the expression and clinical significance of CENPE in gastric cancer	18
Identification of potential diagnostic biomarkers of atherosclerosis based on bioinformatics strategy	18
Interaction, immune infiltration characteristics and prognostic modeling of efferocytosis-related subtypes in glioblastoma	18
Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma	18
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	18
Turning up the heat on non-immunoreactive tumors: autophagy influences the immune microenvironment in pancreatic cancer	17

The prognostic significance of ubiquitination-related genes in multiple myeloma by bioinformatics analysis	17
The frequency of the known mitochondrial variants associated with drug-induced toxicity in a Korean population	17
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review	17
Biochemical markers and FokI and TaqI vitamin D receptor genes polymorphism in rheumatoid arthritis	17
How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?	17
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme	16
Somatic targeted mutation profiling of colorectal cancer precursor lesions	16
Label propagation-based semi-supervised feature selection on decoding clinical phenotypes with RNA-seq data	16
Mutational landscape of pan-cancer patients with PIK3CA alterations in Chinese population	16
Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature	16
Exploring diagnostic m6A regulators in primary open-angle glaucoma: insight from gene signature and possible mechanisms by which key genes function	16
A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family	16
Epigenetic age acceleration is associated with blood lipid levels in a multi-ancestry sample of older U.S. adults	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	15
Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy	15
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia	15
CLOCK gene 3’UTR and exon 9 polymorphisms show a strong association with essential hypertension in a North Indian population	15
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis	15
Revealing platelet-related subtypes and prognostic signature in pancreatic adenocarcinoma	14
RETRACTED ARTICLE: LncRNA PTCSC3 is upregulated in osteoporosis and negatively regulates osteoblast apoptosis	14
Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review	14
Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome	14
A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1	14
Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant	13
Identification and analysis of MSC-Exo-derived LncRNAs related to the regulation of EMT in hypospadias	13
Construction and function analysis of the LncRNA-miRNA-mRNA competing endogenous RNA network in autoimmune hepatitis	13
Basement membrane-related regulators for prediction of prognoses and responses to diverse therapies in hepatocellular carcinoma	13
The correlation between promoter hypermethylation of VDR, CLDN, and CasR genes and recurrent stone formation	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
CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case–control study	12
Identification of necroptosis-related gene TRAF5 as potential target of diagnosing atherosclerosis and assessing its stability	12
Causal effects between circulating immune cells and heart failure: evidence from a bidirectional Mendelian randomization study	12
Correction to: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report	12
Comprehensive bioinformatic analysis of the expression and prognostic significance of TSC22D domain family genes in adult acute myeloid leukemia	12
Retinoblastoma gene expression profiling based on bioinformatics analysis	12
Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations	12
Genetic analysis of a pedigree with MECP2 duplication syndrome in China	12
Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women	11
Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review	11
Analysis of REST binding sites with canonical and non-canonical motifs in human cell lines	11
Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report	11
Case-control study on CYP4B1 gene polymorphism and susceptibility to gastric cancer in the chinese Han population	11
Effects and associated transcriptomic landscape changes of methamphetamine on immune cells	11
Key m6A regulators mediated methylation modification pattern and immune infiltration characterization in hepatic ischemia-reperfusion injury	11
CYP19A1 promotes gastric cancer as part of a lipid metabolism-related gene signature related to the response of immunotherapy and prognosis	11
Multiple malignant tumors in a patient with familial chordoma, a case report	11
Associative gene networks reveal novel candidates important for ADHD and dyslexia comorbidity	11
Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia	11
Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss	11

lncRNA-MIAT rs9625066 polymorphism could be a potential biomarker for ischemic stroke	11
Network proximity analysis as a theoretical model for identifying potential novel therapies in primary sclerosing cholangitis	11
Integration analysis of lncRNA and mRNA expression data identifies DOCK4 as a potential biomarker for elderly osteoporosis	11
Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot	11
Expression profile of circRNA in peripheral blood mononuclear cells of patients with rheumatoid arthritis	10
Integrated analysis of tumor-associated macrophages and M2 macrophages in CRC: unraveling molecular heterogeneity and developing a novel risk signature	10
Identifying key genes and functionally enriched pathways in Th2-high asthma by weighted gene co-expression network analysis	10
Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1	10
Identification of DNA methylation characteristics associated with metastasis and prognosis in colorectal cancer	10
Identifying genetic markers enriched by brain imaging endophenotypes in Alzheimer’s disease	10
Inflammatory response-based prognostication and personalized therapy decisions in clear cell renal cell cancer to aid precision oncology	10
Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China	10
Quality control recommendations for RNASeq using FFPE samples based on pre-sequencing lab metrics and post-sequencing bioinformatics metrics	10
Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review	10
Signature transcriptome analysis of stage specific atherosclerotic plaques of patients	10
AVPR2 is a potential prognostic biomarker and correlated with immune infiltration in head and neck squamous cell carcinoma	10
Detection and identification of Naegleria species along with Naegleria fowleri in the tap water samples	10
Genomic features of Chinese small cell lung cancer	10
Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1	10
A retrospective analysis of MS/MS screening for IEM in high-risk areas	10
A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV	9
Correction: Genomic profiling of sporadic multiple meningiomas	9
Association of VEGF haplotypes with breast cancer risk in North-West Indians	9
Construction of 11 metabolic-related lncRNAs to predict the prognosis in lung adenocarcinoma	9
The influence of Nrf2 gene promoter methylation on gene expression and oxidative stress parameters in preeclampsia	9
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review	9
Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders	9
Nine dietary habits and risk of colorectal cancer: a Mendelian randomization study	9
Association between NR3C1 gene polymorphisms and age-related hearing impairment in Qingdao Chinese elderly	9
Integrative enrichment analysis of gene expression based on an artificial neuron	9
Repeat to gene expression ratios in leukemic blast cells can stratify risk prediction in acute myeloid leukemia	9
Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China	9
Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree	9
Biomarker prediction in autism spectrum disorder using a network-based approach	9
Bioinformatics screening of colorectal-cancer causing molecular signatures through gene expression profiles to discover therapeutic targets and candidate agents	9
RNA-seq reveals differentially expressed lncRNAs and circRNAs and their associated functional network in HTR-8/Svneo cells under hypoxic conditions	9
An intron SNP rs2069837 in IL-6 is associated with osteonecrosis of the femoral head development	9
The role of Neanderthal introgression in liver cancer	9
Analysis of multiple gene co-expression networks to discover interactions favoring CFTR biogenesis and ΔF508-CFTR rescue	9
Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss	9
Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons	9
Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants	9
BNIPL is a promising biomarker of laryngeal cancer: novel insights from bioinformatics analysis and experimental validation	9
A randomized trial evaluating the association between related gene polymorphism and nausea and vomiting induced by cisplatin multi-day chemotherapy	9
Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing	8
Potential miRNA-gene interactions determining progression of various ATLL cancer subtypes after infection by HTLV-1 oncovirus	8
A hypoxia–glycolysis–lactate-related gene signature for prognosis prediction in hepatocellular carcinoma	8
A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics	8
Genetic study of the causal effect of lipid profiles on insomnia risk: a Mendelian randomization trial	8
Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study	8
Despite low viral titer in saliva samples, Sanger-based SARS-CoV-2 spike gene sequencing is highly applicable for the variant identification	8
Correction: Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing	8
Glycosyltransferase GLT8D1 and GLT8D2 serve as potential prognostic biomarkers correlated with Tumor Immunity in Gastric Cancer	8
Integrative analysis of eQTL and GWAS summary statistics reveals transcriptomic alteration in Alzheimer brains	8
Dynamic clustering of genomics cohorts beyond race, ethnicity—and ancestry	8
Early contribution of germline and nevi genetic alterations to a rapidly-progressing cutaneous melanoma patient: a case report	8
Risk stratification of lung adenocarcinoma using a nomogram combined with ferroptosis-related LncRNAs and subgroup analysis with immune and N6-methyladenosine modification	8
Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis	8
Identification of four TTN variants in three families with fetal akinesia deformation sequence	8
CXCR3 predicts the prognosis of endometrial adenocarcinoma	8
Influence of pharmacogenomic polymorphisms on allopurinol-induced cutaneous adverse drug reactions in Thai patients	8
Test development, optimization and validation of a WGS pipeline for genetic disorders	8
A novel DNA damage repair gene-related prognostic model for evaluating the prognosis and tumor microenvironment infiltration of esophageal squamous cell carcinoma	8
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing	8
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants	8
A case report of pediatric acute lymphoblastic leukemia with e8a2 BCR/ABL1 fusion transcript	8
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis	8
Identification of molecular subgroups in osteomyelitis induced by staphylococcus aureus infection through gene expression profiles	8
Genetic targets related to aging for the treatment of coronary artery disease	8
Association of MTHFR C677T variant genotype with serum folate and Vit B12 in Iranian patients with colorectal cancer or adenomatous polyps	8
Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients	8
Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1	8
Diagnostic accuracy of circular RNA for diabetes Mellitus: a systematic review and diagnostic Meta-analysis	8
Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome	8
Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel	8
Evaluation of the effect of MTNR1B rs10830963 gene variant on the therapeutic efficacy of nateglinide in treating type 2 diabetes among Chinese Han patients	8
Transcriptomic analysis reveals pathophysiological relationship between chronic obstructive pulmonary disease (COPD) and periodontitis	8
Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting	7
Expression alteration of serum exosomal circular RNAs in obstructive sleep apnea patients with acute myocardial infarction	7
Integrated analysis and exploration of potential shared gene signatures between carotid atherosclerosis and periodontitis	7

Comprehensive analysis of the expression, prognostic, and immune infiltration for COL4s in stomach adenocarcinoma	7
Identification of immune-related biomarkers and construction of regulatory network in patients with atherosclerosis	7
A blood RNA transcriptome signature for COVID-19	7
Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report	7
Proteomic analysis of lysine 2-hydroxyisobutyryl in SLE reveals protein modification alteration in complement and coagulation cascades and platelet activation Pathways	7
Targeting RECQL4 in hepatocellular carcinoma: from prognosis to therapeutic potential	7
A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing	7
Genome-wide DNA methylation profiling of CD4+ T lymphocytes identifies differentially methylated loci associated with adult primary refractory immune thrombocytopenia	7
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	7
Bioinformatics analysis identifies potential hub genes and crucial pathways in the pathogenesis of asthenozoospermia	7
Copy number variation of urine exfoliated cells by low-coverage whole genome sequencing for diagnosis of prostate adenocarcinoma: a prospective cohort study	7
A pyroptosis-related gene signature provides an alternative for predicting the prognosis of patients with hepatocellular carcinoma	7
Genome-wide analysis of retinal transcriptome reveals common genetic network underlying perception of contrast and optical defocus detection	7
A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome	7
Comparison of methylation estimates obtained via MinION nanopore sequencing and sanger bisulfite sequencing in the TRPA1 promoter region	7
A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report	7
NQO1 polymorphism and susceptibility to ischemic stroke in a Chinese population	7
Study on the mechanism of BGN in progression and metastasis of ccRCC	7
Novel combined variants of WT1 and TET2 in a refractory and recurrent AML patient	7
Transcriptomic analysis delineates preterm prelabor rupture of membranes from preterm labor in preterm fetal membranes	7
New insight into the development of synpolydactyly caused by expansion of HOXD13 polyalanine based on weighted gene co-expression network analysis	7
Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study	7
Causal effects of gut microbiome on autoimmune liver disease: a two-sample Mendelian randomization study	7
Subcutaneous adipose tissue alteration in aging process associated with thyroid hormone signaling	7
Effects of major depression and bipolar disorder on erectile dysfunction: a two-sample mendelian randomization study	7
Ultra-sensitive molecular detection of gene fusions from RNA using ASPYRE	7
Predictive significance of glycolysis-associated lncRNA profiles in colorectal cancer progression	7
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	7
Tumorigenic role of Pak4 in ovarian cancer and its correlation with immune infiltration	7
Identification of a novel FGF3 variant and a new phenotype in three LAMM syndrome families	7
Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease	7
Construction and validation of a metabolism-associated gene signature for predicting the prognosis, immune landscape, and drug sensitivity in bladder cancer	7
Transcriptome sequencing reveals regulatory genes associated with neurogenic hearing loss	7
Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis	7
Association of gastric inhibitory polypeptide receptor (GIPR) gene polymorphism with type 2 diabetes mellitus in iranian patients	7
Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach	7
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases	7
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family	7
Mediation role of body fat distribution (FD) on the relationship between CAV1 rs3807992 polymorphism and metabolic syndrome in overweight and obese women	7
Revealing novel pyroptosis-related therapeutic targets for sepsis based on machine learning	6
Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing	6
Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review	6
Mendelian randomization indicates that atopic dermatitis contributes to the occurrence of diabetes	6
Nanopore-based full-length transcriptome sequencing for understanding the underlying molecular mechanisms of rapid and slow progression of diabetes nephropathy	6
Identification of ferroptosis related biomarkers and immune infiltration in Parkinson’s disease by integrated bioinformatic analysis	6
Analysis of molecular epidemiological characteristics and antimicrobial susceptibility of vancomycin-resistant and linezolid-resistant Enterococcus in China	6
Whole exome sequencing analysis of 167 men with primary infertility	6
Clinical feature-related single-base substitution sequence signatures identified with an unsupervised machine learning approach	6
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus	6
Shared etiology of Mendelian and complex disease supports drug discovery	6
Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation	6
A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching	6
An adaptive method of defining negative mutation status for multi-sample comparison using next-generation sequencing	6
Genomic and transcriptional characterization of early esophageal squamous cell carcinoma	6
De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia	6
GPX8+ cancer-associated fibroblast, as a cancer-promoting factor in lung adenocarcinoma, is related to the immunosuppressive microenvironment	6
A pyroptosis-associated signature plays a role in prognosis prediction in clear cell renal cell carcinoma	6
HBV genome-enriched single cell sequencing revealed heterogeneity in HBV-driven hepatocellular carcinoma (HCC)	6
Establishment and validation of an immune infiltration predictive model for ovarian cancer	6
Inflammation and neuronal gene expression changes differ in early versus late chronic traumatic encephalopathy brain	6
Prognosis and biological function of SGOL1 in clear cell renal cell carcinoma: a multiomics analysis	6
A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report	6
Asthma and atopic dermatitis as risk factors for rheumatoid arthritis: a bidirectional mendelian randomization study	6
Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases	6
Development of a clinical metagenomics workflow for the diagnosis of wound infections	6
Identification of immunization-related new prognostic biomarkers for papillary renal cell carcinoma by integrated bioinformatics analysis	6
Elevated expression of APOO as a potential prognostic marker in breast cancer: insights from bioinformatic analysis and experimental validation	6
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study	6
Discovering the interactome, functions, and clinical relevance of enhancer RNAs in kidney renal clear cell carcinoma	6
Identification of a novel lymphangiogenesis signature associated with immune cell infiltration in colorectal cancer based on bioinformatics analysis	6
Differential expression of the circadian clock network correlates with tumour progression in gliomas	6
Association between venous thromboembolism and atrial fibrillation: a Mendelian randomization study	6
Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome	6
An exosome mRNA-related gene risk model to evaluate the tumor microenvironment and predict prognosis in hepatocellular carcinoma	6
Systematic analysis of prognostic significance, functional enrichment and immune implication of STK10 in acute myeloid leukemia	6
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability	6
Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant	6
A novel mutation in SORD gene associated with distal hereditary motor neuropathies	6
Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report	6
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort	6
Custom gene expression panel for evaluation of potential molecular markers in hepatocellular carcinoma	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
SARS-CoV-2: tracing the origin, tracking the evolution	6
Comprehensive analysis of ferroptosis-related genes and prognosis of cutaneous melanoma	6
Effects of different temperatures on chondrocyte growth: a transcriptomic analysis	6
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction	6
Identification of mitochondria-related biomarkers in childhood allergic asthma	6
Evaluation of a biomarker for amyotrophic lateral sclerosis derived from a hypomethylated DNA signature of human motor neurons	6
Association of disease severity and genetic variation during primary Respiratory Syncytial Virus infections	6
Identification of genetic mechanisms underlying lipid metabolism-mediated tumor immunity in head and neck squamous cell carcinoma	5
Mendelian randomization study confirms causal relationship between myopia and vitreous disorders	5
Changes in expression levels of erythrocyte and immune-related genes are associated with high altitude polycythemia	5
Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report	5
CTNNA3 genetic polymorphism may be a new genetic signal of type 2 diabetes in the Chinese Han population: a case control study	5
CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome	5