Human Genomics

Human Genomics

人类基因组学

  • 3区 中科院分区
  • Q2 JCR分区

高引用文章

文章名称 引用次数
The X chromosome and sex-specific effects in infectious disease susceptibility 53
Linking a role of lncRNAs (long non-coding RNAs) with insulin resistance, accelerated senescence, and inflammation in patients with type 2 diabetes 32
Integrating rare genetic variants into pharmacogenetic drug response predictions 30
Next-generation sequencing in liquid biopsy: cancer screening and early detection 30
Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good 18
Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 910 single pregnancies with different clinical features 13
APPLaUD: access for patients and participants to individual level uninterpreted genomic data 13
SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside 10
Update on the human and mouse lipocalin (LCN) gene family, including evidence the mouse Mup cluster is result of an evolutionary bloom 9
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion 9
lncRNA TUG1 modulates proliferation, apoptosis, invasion, and angiogenesis via targeting miR-29b in trophoblast cells 9
Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies 9
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients 8
Tensions in ethics and policy created by National Precision Medicine Programs 8
Beyond genomics: understanding exposotypes through metabolomics 7
Interplay Between the Host, the Human Microbiome, and Drug Metabolism 7
The development of large-scale de-identified biomedical databases in the age of genomics-principles and challenges 7
Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure 6
The tale of histone modifications and its role in multiple sclerosis 6
Genome-wide association study identifies novel loci for type 2 diabetes-attributed end-stage kidney disease in African Americans 6
Including all voices in international data-sharing governance 6
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features 6
Essential genetic findings in neurodevelopmental disorders 6
Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration 5
Genomics of rare genetic diseases-experiences from India 5
Downregulation of miR-542-3p promotes osteogenic transition of vascular smooth muscle cells in the aging rat by targeting BMP7 5
Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community 5
The multi-faceted functioning portrait of LRF/ZBTB7A 5
A novel knowledge-derived data potentizing method revealed unique liver cancer-associated genetic variants 5
What influences public views on forensic DNA testing in the criminal field? A scoping review of quantitative evidence 5
Evidence that DNA repair genes, a family of tumor suppressor genes, are associated with evolution rate and size of genomes 5
Identify Down syndrome transcriptome associations using integrative analysis of microarray database and correlation-interaction network 5
Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes 4
Investigating RNA expression profiles altered by nicotinamide mononucleotide therapy in a chronic model of alcoholic liver disease 4
A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts 4
Association of genetic ancestry with colorectal tumor location in Puerto Rican Latinos 4
Considerations for the use of Cre recombinase for conditional gene deletion in the mouse lens 4
Identification and potential mechanisms of a 4-lncRNA signature that predicts prognosis in patients with laryngeal cancer 4
Size matters: how sample size affects the reproducibility and specificity of gene set analysis 4
Association of HTRA1 and ARMS2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age-related macular degenerative subjects 4
Genome-wide enriched pathway analysis of acute post-radiotherapy pain in breast cancer patients: a prospective cohort study 4
Identification of key candidate genes and molecular pathways in white fat browning: an anti-obesity drug discovery based on computational biology 3
Shared genetic underpinnings of childhood obesity and adult cardiometabolic diseases 3
Ensemble genomic analysis in human lung tissue identifies novel genes for chronic obstructive pulmonary disease 3
Secondary findings in 421 whole exome-sequenced Chinese children 3
The evolutionary genetics of lactase persistence in seven ethnic groups across the Iranian plateau 3
Nonparametric approaches for population structure analysis 3
Three miRNAs cooperate with host genes involved in human cardiovascular disease 2
Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study 2
Insights about genome function from spatial organization of the genome 2