Human Genomics SCIE

文章名称引用次数

• The X chromosome and sex-specific effects in infectious disease susceptibility53
• Linking a role of lncRNAs (long non-coding RNAs) with insulin resistance, accelerated senescence, and inflammation in patients with type 2 diabetes32
• Integrating rare genetic variants into pharmacogenetic drug response predictions30
• Next-generation sequencing in liquid biopsy: cancer screening and early detection30
• Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good18
• Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 910 single pregnancies with different clinical features13
• APPLaUD: access for patients and participants to individual level uninterpreted genomic data13
• SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside10
• Update on the human and mouse lipocalin (LCN) gene family, including evidence the mouse Mup cluster is result of an evolutionary bloom9
• Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion9