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Yan Ding

机构:Children’s Institute, Rady Children's Institute for Genomic Medicine · ORCID:0000-0002-9914-9352

发表论文 80 篇 · 总被引 12530 次 · h-index 37

代表论文

  • Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation (2016 · New England Journal of Medicine · 被引 810)
  • Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization (2018 · npj Genomic Medicine · 被引 472)
  • A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants (2019 · The American Journal of Human Genetics · 被引 367)
  • Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation (2019 · Science Translational Medicine · 被引 307)
  • Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes (2019 · npj Genomic Medicine · 被引 286)
  • An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm (2020 · The American Journal of Human Genetics · 被引 193)