Human Genomics - 2020

45 articles | Last updated: 2025-12-03 14:12:57
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T A T A T A T A
COVID-19 update: the first 6 months of the pandemic
A rational approach to COVID-19
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy
The haplotypes of various TNF related genes associated with scleritis in Chinese Han Chinese Han
KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses
Correction to: The social, economic, political, and genetic value of race and ethnicity in 2020
Microarray analysis identification of key pathways and interaction network of differential gene expressions during osteogenic differentiation
Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder
Human genetic factors associated with susceptibility to SARS-CoV-2 infection and COVID-19 disease severity
A miR-182 variant and risk of hepatocellular carcinoma in a southern Chinese population
The social, economic, political, and genetic value of race and ethnicity in 2020
Mild dyserythropoiesis and β-like globin gene expression imbalance due to the loss of histone chaperone ASF1B Maltese
Evaluation of a genetic risk score for severity of COVID-19 using human chromosomal-scale length variation
Practicing precision medicine with intelligently integrative clinical and multi-omics data analysis
Aberration of the modulatory functions of intronic microRNA hsa-miR-933 on its host gene ATF2 results in type II diabetes mellitus and neurodegenerative disease development
Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects Chinese population; Han women
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study Japanese; Japanese-specific DNA microarray; Japanese surgical patients
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients Italian; ethnically matched populations
Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis different ancestries
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020
Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings
Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery
Whole-genome sequencing of Chinese centenarians reveals important genetic variants in aging WGS of centenarian for genetic analysis of aging
A potential prognostic prediction model of colon adenocarcinoma with recurrence based on prognostic lncRNA signatures
Genomics of COVID-19: molecular mechanisms going from susceptibility to severity of the disease
COVID-19 preclinical models: human angiotensin-converting enzyme 2 transgenic mice
Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China
Gene X environment: the cellular environment governs the transcriptional response to environmental chemicals
COVID-19 vulnerability: the potential impact of genetic susceptibility and airborne transmission
An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population
Identification of rare and common variants in BNIP3L: a schizophrenia susceptibility gene Han Chinese
Hydroxymethylation and tumors: can 5-hydroxymethylation be used as a marker for tumor diagnosis and treatment?
A novel method to predict essential proteins based on tensor and HITS algorithm
Is the number of DNA repair genes associated with evolution rate and size of genomes?
Reply to “Is the number of DNA repair genes associated with evolution rate and size of genomes?”
Do epigenetic changes caused by commensal microbiota contribute to development of ocular disease? A review of evidence
Metabolomic profiling of metoprolol hypertension treatment reveals altered gut microbiota-derived urinary metabolites
Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase
TRPM3_miR-204: a complex locus for eye development and disease
Identification and characterization of methylation-mediated transcriptional dysregulation dictate methylation roles in preeclampsia
Delineating significant genome-wide associations of variants with antipsychotic and antidepressant treatment response: implications for clinical pharmacogenomics
Re-analysis of whole blastocysts after trophectoderm biopsy indicated chromosome aneuploidy
Investigating diagnostic sequencing techniques for CADASIL diagnosis