Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report
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Volume 13, issue 1, December 2020
133 articles in this issue
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Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation
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Identification of biological correlates associated with respiratory failure in COVID-19
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Identification of LINC02310 as an enhancer in lung adenocarcinoma and investigation of its regulatory network via comprehensive analyses
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The C allele of the reactive oxygen species modulator 1 (ROMO1) polymorphism rs6060566 is a biomarker predicting coronary artery stenosis in Slovenian subjects with type 2 diabetes mellitus
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Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature
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Psychomotor development and attention problems caused by a splicing variant of CNKSR2
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The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy
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Copy number gain of pro-inflammatory genes in patients with HBV-related acute-on-chronic liver failure
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Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups
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A random forest based biomarker discovery and power analysis framework for diagnostics research
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RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta
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Identification of contributing genes of Huntington’s disease by machine learning
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A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report
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Functional genomics of AP-2α and AP-2γ in cancers: in silico study
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Mutational profiling of micro-dissected pre-malignant lesions from archived specimens
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Identification of intestinal flora-related key genes and therapeutic drugs in colorectal cancer
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Genomic profile of MYCN non-amplified neuroblastoma and potential for immunotherapeutic strategies in neuroblastoma
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Comparative assessments of indel annotations in healthy and cancer genomes with next-generation sequencing data
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Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE)
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In silico pathway analysis based on chromosomal instability in breast cancer patients
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Genomic analysis of circular RNAs in heart
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Construction and investigation of a combined hypoxia and stemness index lncRNA-associated ceRNA regulatory network in lung adenocarcinoma
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Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape
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Considering the APOE locus in Alzheimer’s disease polygenic scores in the Health and Retirement Study: a longitudinal panel study
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The values of AHCY and CBS promoter methylation on the diagnosis of cerebral infarction in Chinese Han population
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A new efficient method to detect genetic interactions for lung cancer GWAS
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Elucidation of molecular links between obesity and cancer through microRNA regulation
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Biomarker discovery in attention deficit hyperactivity disorder: RNA sequencing of whole blood in discordant twin and case-controlled cohorts
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Identification of potential causal variants for premature ovarian failure by whole exome sequencing
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Involvement of NEK2 and its interaction with NDC80 and CEP250 in hepatocellular carcinoma
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Noninvasive prenatal paternity determination using microhaplotypes: a pilot study
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Accuracy and reproducibility of somatic point mutation calling in clinical-type targeted sequencing data
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Exploring the association of long noncoding RNA expression profiles with intracranial aneurysms, based on sequencing and related bioinformatics analysis
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Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review
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TOP2A and CENPF are synergistic master regulators activated in cervical cancer
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A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report
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Highly multiplexed quantifications of 299 somatic mutations in colorectal cancer patients by automated MALDI-TOF mass spectrometry
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Comprehensive analysis of angiogenesis-related genes and pathways in early diabetic retinopathy
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Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report
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Identification of key genes and functions of circulating tumor cells in multiple cancers through bioinformatic analysis
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The similarity of inherited diseases (II): clinical and biological similarity between the phenotypic series
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Whole-exome sequencing reveals potential mechanisms of drug resistance to FGFR3-TACC3 targeted therapy and subsequent drug selection: towards a personalized medicine
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LncRNA and transcriptomic analysis of fetal membrane reveal potential targets involved in oligohydramnios
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Transcriptome analysis of peripheral whole blood identifies crucial lncRNAs implicated in childhood asthma
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Epigenetic loci for blood pressure are associated with hypertensive target organ damage in older African Americans from the genetic epidemiology network of Arteriopathy (GENOA) study
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Exosomal microRNAs are novel circulating biomarkers in cigarette, waterpipe smokers, E-cigarette users and dual smokers
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A 15q25.2 microdeletion phenotype for premature ovarian failure in a Chinese girl: a case report and review of literature
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Comparative transcriptome analysis of human skeletal muscle in response to cold acclimation and exercise training in human volunteers
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Integrative genomics analysis of various omics data and networks identify risk genes and variants vulnerable to childhood-onset asthma
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