Works in BMC Medical Genomics, 2020, Vol 13, Issue 1
Results: 140
Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00847-1
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Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00843-5
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Identification of biological correlates associated with respiratory failure in COVID-19.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00839-1
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00834-6
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00845-3
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00842-6
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Psychomotor development and attention problems caused by a splicing variant of CNKSR2.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00844-4
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00831-9
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00835-5
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00824-8
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A random forest based biomarker discovery and power analysis framework for diagnostics research.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00826-6
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00825-7
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Identification of contributing genes of Huntington's disease by machine learning.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00822-w
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00821-x
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Functional genomics of AP-2α and AP-2γ in cancers: in silico study.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00823-9
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Mutational profiling of micro-dissected pre-malignant lesions from archived specimens.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00820-y
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Identification of intestinal flora-related key genes and therapeutic drugs in colorectal cancer.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00810-0
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Genomic profile of MYCN non-amplified neuroblastoma and potential for immunotherapeutic strategies in neuroblastoma.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00819-5
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Comparative assessments of indel annotations in healthy and cancer genomes with next-generation sequencing data.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00818-6
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Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE).
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00814-w
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In silico pathway analysis based on chromosomal instability in breast cancer patients.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00811-z
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Genomic analysis of circular RNAs in heart.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00817-7
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00816-8
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Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00809-7
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00815-9
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00798-7
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A new efficient method to detect genetic interactions for lung cancer GWAS.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00807-9
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Elucidation of molecular links between obesity and cancer through microRNA regulation.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00797-8
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00808-8
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Identification of potential causal variants for premature ovarian failure by whole exome sequencing.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00813-x
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Involvement of NEK2 and its interaction with NDC80 and CEP250 in hepatocellular carcinoma.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00812-y
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Noninvasive prenatal paternity determination using microhaplotypes: a pilot study.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00806-w
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Accuracy and reproducibility of somatic point mutation calling in clinical-type targeted sequencing data.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00803-z
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00805-x
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Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00802-0
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00801-1
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TOP2A and CENPF are synergistic master regulators activated in cervical cancer.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00800-2
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00804-y
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Comprehensive analysis of angiogenesis-related genes and pathways in early diabetic retinopathy.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00799-6
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00796-9
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Identification of key genes and functions of circulating tumor cells in multiple cancers through bioinformatic analysis.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00795-w
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The similarity of inherited diseases (II): clinical and biological similarity between the phenotypic series.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00793-y
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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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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00794-x
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Transcription factor expression as a predictor of colon cancer prognosis: a machine learning practice.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00775-0
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High dimensional model representation of log likelihood ratio: binary classification with SNP data.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00774-1
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Integrative network analysis identifies potential targets and drugs for ovarian cancer.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00773-2
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Expression correlation attenuates within and between key signaling pathways in chronic kidney disease.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00772-3
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LncRNA and transcriptomic analysis of fetal membrane reveal potential targets involved in oligohydramnios.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00792-z
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A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00790-1
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Multiple paragangliomas: a case report.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00789-8
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