Articles
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Citation: BMC Medical Genomics 2024 17:131
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Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies
Whole exome sequencing allows rapid identification of causative single nucleotide variants and short insertions/deletions in children with congenital anomalies and/or intellectual disability, which aids in acc...
Citation: BMC Medical Genomics 2024 17:130 -
Correction: Pancancer analysis of the prognostic and immunological role of FANCD2: a potential target for carcinogenesis and survival
Citation: BMC Medical Genomics 2024 17:129 -
Where do obesity and male infertility collide?
The parallel rise in obesity and male infertility in modern societies necessitates the identification of susceptibility genes underlying these interconnected health issues. In our study, we conducted a compreh...
Citation: BMC Medical Genomics 2024 17:128 -
Identification of DNA methylation characteristics associated with metastasis and prognosis in colorectal cancer
Colorectal cancer (CRC) is prone to metastasis and recurrence after surgery, which is one of the main causes for its poor treatment and prognosis. Therefore, it is essential to identify biomarkers associated w...
Citation: BMC Medical Genomics 2024 17:127 -
Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing
Long QT syndrome (LQTS) is a cardiac channelopathy characterized by impaired myocardial repolarization that predisposes to life-threatening arrhythmias. This study aimed to elucidate the genetic basis of LQTS ...
Citation: BMC Medical Genomics 2024 17:126 -
Exploring the extrachromosomal plasmid rDNA of Naegleria fowleri AY27 genotype II: A human brain-eating amoeba via high-throughput sequencing
Naegleria fowleri, also known as brain-earing amoeba, causes severe and rapidly fatal CNS infection in humans called primary amebic meningoencephalitis (PAM). The DNA from the N. fowleri clinical isolate was sequ...
Citation: BMC Medical Genomics 2024 17:125 -
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
Glycogen storage disease (GSD) is a disease caused by excessive deposition of glycogen in tissues due to genetic disorders in glycogen metabolism. Glycogen storage disease type I (GSD-I) is also known as VonGe...
Citation: BMC Medical Genomics 2024 17:124 -
Association between Mir-17-92 gene promoter polymorphisms and depression in a Chinese population
Depression is a common chronic debilitating disease with a heavy social burden. single nucleotide polymorphisms (SNPs) can affect the function of microRNAs (miRNAs), which is in turn associated with neurologic...
Citation: BMC Medical Genomics 2024 17:123 -
Transcriptomics reveals dynamic changes in the “gene profiles” of rat supraspinatus tendon at three different time points after diabetes induction
There is increasing evidence that type 2 diabetes mellitus (T2DM) is an independent risk factor for the occur of tendinopathy. Therefore, this study is the first to explore the dynamic changes of the “gene pro...
Citation: BMC Medical Genomics 2024 17:122 -
Identification of prognostic stemness-related genes in kidney renal papillary cell carcinoma
Kidney renal papillary cell carcinoma (KIRP) is the second most prevalent malignant cancer originating from the renal epithelium. Nowadays, cancer stem cells and stemness-related genes (SRGs) are revealed to p...
Citation: BMC Medical Genomics 2024 17:121 -
Identification of sepsis-associated mitochondrial genes through RNA and single-cell sequencing approaches
Sepsis ranks among the most formidable clinical challenges, characterized by exorbitant treatment costs and substantial demands on healthcare resources. Mitochondrial dysfunction emerges as a pivotal risk fact...
Citation: BMC Medical Genomics 2024 17:120 -
Analyzing the expression and clinical significance of CENPE in gastric cancer
Gastric cancer (GC) is a prevalent type of malignant gastrointestinal tumor. Many studies have shown that CENPE acts as an oncogene in some cancers. However, its expression level and clinical value in GC are n...
Citation: BMC Medical Genomics 2024 17:119 -
No genetic causal association between periodontitis and ankylosing spondylitis: a bidirectional two-sample mendelian randomization analysis
Observational studies that reveal an association between periodontitis (PD) and ankylosing spondylitis (AS) exist. However, observational research is prone to reverse causality and confounding factors, which m...
Citation: BMC Medical Genomics 2024 17:118 -
Circulating-tumour DNA methylation of HAND1 gene: a promising biomarker in early detection of colorectal cancer
Colorectal cancer (CRC) is one of the significant global health concerns with an increase in cases. Regular screening tests are crucial for early detection as it is often asymptomatic in the initial stages. Li...
Citation: BMC Medical Genomics 2024 17:117 -
Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome
Sotos syndrome (SOTOS) is an uncommon genetic condition that manifests itself with the following distinctive features: prenatal overgrowth, facial abnormalities, and intellectual disability. This disorder is o...
Citation: BMC Medical Genomics 2024 17:116 -
Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus
The genetic basis of type 2 diabetes (T2D) is under-investigated in the Middle East, despite the rapidly growing disease prevalence. We aimed to define the genetic determinants of T2D in Qatar.
Citation: BMC Medical Genomics 2024 17:115 -
Bioinformatics analysis revealed the potential crosstalk genes and molecular mechanisms between intracranial aneurysms and periodontitis
The risk of intracranial aneurysms (IAs) development and rupture is significantly higher in patients with periodontitis (PD), suggesting an association between the two. However, the specific mechanisms of asso...
Citation: BMC Medical Genomics 2024 17:114 -
Investigation of the interaction between genetic risk score (GRS) and fatty acid quality indices on metabolic syndrome among overweight and obese women
Metabolic syndrome is one of the major public-health challenges, affecting one-quarter of the world population. Fatty acid quality indices are novel determinants of this disease and their interactions with gen...
Citation: BMC Medical Genomics 2024 17:113 -
Predictive significance of glycolysis-associated lncRNA profiles in colorectal cancer progression
The Warburg effect is a hallmark characteristic of colorectal cancer (CRC). Despite extensive research, the role of long non-coding RNAs (lncRNAs) in influencing the Warburg effect remains incompletely underst...
Citation: BMC Medical Genomics 2024 17:112 -
Poor statistical power in population-based association study of gene interaction
Statistical epistasis, or “gene–gene interaction” in genetic association studies, means the nonadditive effects between the polymorphic sites on two different genes affecting the same phenotype. In the genetic...
Citation: BMC Medical Genomics 2024 17:111 -
Short reads-based characterization of pathotype diversity and drug resistance among Escherichia coli isolated from patients attending regional referral hospitals in Tanzania
Escherichia coli is known to cause about 2 million deaths annually of which diarrhea infection is leading and typically occurs in children under 5 years old. Although Africa is the most affected region there is l...
Citation: BMC Medical Genomics 2024 17:110 -
Genetic variability in stroke patients: CYP2C19 polymorphisms unraveled
To study the distribution characteristics of CYP2C19 polymorphisms in patients suffering from stroke in Han Chinese patients.
Citation: BMC Medical Genomics 2024 17:109 -
A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family
Alport syndrome (AS) is characterised by haematuria, proteinuria, a gradual decline in kidney function, hearing loss, and eye abnormalities. The disease is caused by mutations in COL4An (n = 3, 4, 5) that encodes...
Citation: BMC Medical Genomics 2024 17:108 -
Comprehensive characterization of immunogenic cell death in acute myeloid leukemia revealing the association with prognosis and tumor immune microenvironment
This study aimed to explore the clinical significance of immunogenic cell death (ICD) in acute myeloid leukemia (AML) and its relationship with the tumor immune microenvironment characteristics. It also aimed ...
Citation: BMC Medical Genomics 2024 17:107 -
Syndromic ciliopathy: a taiwanese single-center study
Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. T...
Citation: BMC Medical Genomics 2024 17:106 -
SLC27A2 is a potential immune biomarker for hematological tumors and significantly regulates the cell cycle progression of diffuse large B-cell lymphoma
Research on the fatty acid metabolism related gene SLC27A2 is currently mainly focused on solid tumors, and its mechanism of action in hematological tumors has not been reported.
Citation: BMC Medical Genomics 2024 17:105 -
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report
Waardenburg syndrome type 2 (WS2) has been reported to be a rare hereditary disorder, which is distinguished by vivid blue eyes, varying degrees of hearing impairment, and abnormal pigment deposition in the sk...
Citation: BMC Medical Genomics 2024 17:104 -
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
Hepatocellular carcinoma represents a significant global burden in terms of cancer-related mortality, posing a substantial risk to human health. Despite the availability of various treatment modalities, the ov...
Citation: BMC Medical Genomics 2024 17:103 -
Blood cell parameters and risk of nonalcoholic fatty liver disease: a comprehensive Mendelian randomization study
Nonalcoholic fatty liver disease (NAFLD) is on the rise globally, and past research suggests a significant association with various blood cell components. Our goal is to explore the potential correlation betwe...
Citation: BMC Medical Genomics 2024 17:102 -
Influence of pharmacogenomic polymorphisms on allopurinol-induced cutaneous adverse drug reactions in Thai patients
Allopurinol has been causing substantial morbidity and mortality particularly in Asian population by producing cutaneous adverse drug reactions (cADRs). Nonetheless, there are no data describing whether other ...
Citation: BMC Medical Genomics 2024 17:101 -
A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts
This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presen...
Citation: BMC Medical Genomics 2024 17:100 -
Identification of osteoporosis ferroptosis-related markers and potential therapeutic compounds based on bioinformatics methods and molecular docking technology
Osteoporosis (OP) is one of the most common bone diseases worldwide, characterized by low bone mineral density and susceptibility to pathological fractures, especially in postmenopausal women and elderly men. ...
Citation: BMC Medical Genomics 2024 17:99 -
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing
Premature ovarian insuffiency (POI) is one of the main cause behind infertility. The genetic analysis of POI should be part of the clinical diagnostics, as several genes have been implicated in the genetic bac...
Citation: BMC Medical Genomics 2024 17:98 -
Analysis of cancer-associated fibroblasts related genes identifies COL11A1 associated with lung adenocarcinoma prognosis
The treatment of lung adenocarcinoma is difficult due to the limited therapeutic options. Cancer-associated fibroblasts play an important role in the development of cancers. This study aimed to identify a prom...
Citation: BMC Medical Genomics 2024 17:97 -
Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma
The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes of single cells in CH. In this study, single-cell transcriptome sequencing ...
Citation: BMC Medical Genomics 2024 17:96 -
A novel variant in NSUN2 causes intellectual disability in a Chinese family
NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardati...
Citation: BMC Medical Genomics 2024 17:95 -
Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in ...
Citation: BMC Medical Genomics 2024 17:94 -
Revealing Prdx4 as a potential diagnostic and therapeutic target for acute pancreatitis based on machine learning analysis
Acute pancreatitis (AP) is a common systemic inflammatory disease resulting from the activation of trypsinogen by various incentives in ICU. The annual incidence rate is approximately 30 out of 100,000. Some p...
Citation: BMC Medical Genomics 2024 17:93 -
Analysis of REST binding sites with canonical and non-canonical motifs in human cell lines
Repressor element 1 (RE1) silencing transcription factor (REST) is a transcriptional repressor abundantly expressed in aging human brains. It is known to regulate genes associated with oxidative stress, inflam...
Citation: BMC Medical Genomics 2024 17(Suppl 1):92 -
Adherence to the Mediterranean diet can beneficially affect the gut microbiota composition: a systematic review
Dietary patterns could have a notable role in shaping gut microbiota composition. Evidence confirms the positive impact of the Mediterranean diet (MD), as one of the most studied healthy dietary patterns, on t...
Citation: BMC Medical Genomics 2024 17:91 -
Retraction Note: LncRNA PTCSC3 is upregulated in osteoporosis and negatively regulates osteoblast apoptosis
Citation: BMC Medical Genomics 2024 17:90 -
Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms
Branchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormal...
Citation: BMC Medical Genomics 2024 17:89 -
A hypoxia–glycolysis–lactate-related gene signature for prognosis prediction in hepatocellular carcinoma
Liver cancer ranks sixth in incidence and third in mortality globally and hepatocellular carcinoma (HCC) accounts for 90% of it. Hypoxia, glycolysis, and lactate metabolism have been found to regulate the prog...
Citation: BMC Medical Genomics 2024 17:88 -
Identification and analysis of MSC-Exo-derived LncRNAs related to the regulation of EMT in hypospadias
This study aims to screen the differentially expressed long non-coding RNAs (DELncRNAs) related to the regulation of epithelial-mesenchymal transition (EMT) in hypospadias in mesenchymal stem cell-derived exos...
Citation: BMC Medical Genomics 2024 17:87 -
An exosome mRNA-related gene risk model to evaluate the tumor microenvironment and predict prognosis in hepatocellular carcinoma
The interplay between exosomes and the tumor microenvironment (TME) remains unclear. We investigated the influence of exosomes on the TME in hepatocellular carcinoma (HCC), focusing on their mRNA expression pr...
Citation: BMC Medical Genomics 2024 17:86 -
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
Multilocus pathogenic variants (MPVs) are genetic changes that affect multiple gene loci or regions of the genome, collectively leading to multiple molecular diagnoses. MPVs may also contribute to intrafamilia...
Citation: BMC Medical Genomics 2024 17:85 -
Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics
Diffuse large B-cell lymphoma (DLBCL), an aggressive and heterogenic malignant entity, is still a challenging clinical problem, since around one-third of patients are not cured with primary treatment. Next-gen...
Citation: BMC Medical Genomics 2024 17:84 -
Long noncoding RNA UNC5B-AS1 suppresses cell proliferation by sponging miR-24-3p in glioblastoma multiforme
Glioblastoma multiforme (GBM) is the most common primary CNS tumor, characterized by high mortality and heterogeneity. However, the related lncRNA signatures and their target microRNA (miRNA) for GBM are still...
Citation: BMC Medical Genomics 2024 17:83 -
GGT5 facilitates migration and invasion through the induction of epithelial–mesenchymal transformation in gastric cancer
Gamma-glutamyltransferase 5 (GGT5), one of the two members in the GGT family (GGT1 and GGT5), plays a crucial role in oxidative regulation, inflammation promotion, and drug metabolism. Particularly in the tumo...
Citation: BMC Medical Genomics 2024 17:82
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0.730 - SNIP (Source Normalized Impact per Paper)
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