Human Genetics and Genomics Advances

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Top Publications

• Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

  (2021)
  168 Citations

• Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

  Lia Boyle;Lu Rao;Simranpreet Kaur;Xiao Fan

  (2021)
  61 Citations

• From pharmacogenetics to pharmaco-omics: Milestones and future directions

  (2022)
  49 Citations

• Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide

  Philip E. Stuart;Lam C. Tsoi;Rajan P. Nair;Manju Ghosh

  (2022)
  48 Citations

• Stability of polygenic scores across discovery genome-wide association studies

  (2021)
  47 Citations

• Genetic discovery and risk characterization in type 2 diabetes across diverse populations

  Linda M. Polfus;Burcu F. Darst;Heather Highland;Xin Sheng

  (2021)
  41 Citations

• Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

  (2021)
  39 Citations

• The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes

  (2022)
  32 Citations

• Identification of 90 NAFLD GWAS loci and establishment of NAFLD PRS and causal role of NAFLD in coronary artery disease

  Zong Miao;Kristina M. Garske;David Z. Pan;Amogha Koka

  (2022)
  32 Citations

• TIGAR-V2: Efficient TWAS tool with nonparametric Bayesian eQTL weights of 49 tissue types from GTEx V8

  Randy L. Parrish;Greg C. Gibson;Michael P. Epstein;Jingjing Yang

  (2022)
  30 Citations