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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

  • Avinash V. Dharmadhikari
  • , Rajarshi Ghosh
  • , Bo Yuan
  • , Pengfei Liu
  • , Hongzheng Dai
  • , Sami Al Masri
  • , Jennifer Scull
  • , Jennifer E. Posey
  • , Allen H. Jiang
  • , Weimin He
  • , Francesco Vetrini
  • , Alicia A. Braxton
  • , Patricia Ward
  • , Theodore Chiang
  • , Chunjing Qu
  • , Shen Gu
  • , Chad A. Shaw
  • , Janice L. Smith
  • , Seema Lalani
  • , Pawel Stankiewicz
    • Sau Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi

Research output: Contribution to journal › Article › peer-review

53 Scopus citations

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Biochemistry, Genetics and Molecular Biology