Raymond H Kim

Summary

Affiliation: University of Toronto
Country: Canada

Publications

  1. Marshall C, Scherer S, Zariwala M, Lau L, Paton T, Stockley T, et al. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda). 2015;5:1775-81 pubmed publisher
    ..In patients with a clinical diagnosis of PCD, whole-exome sequencing followed by targeted CNV analysis results in an overall molecular genetic yield of 76% (34/45). ..
  2. Stjepanovic N, Stockley T, Bedard P, McCuaig J, Aronson M, Holter S, et al. Additional germline findings from a tumor profiling program. BMC Med Genomics. 2018;11:65 pubmed publisher
    ..Disclosure of previously unidentified gMAVs present multiple challenges, thus supporting the involvement of a clinical genetics service in all tumor profiling programs. ..
  3. Albanyan S, Giles R, Gimeno E, Silver J, Murphy J, Faghfoury H, et al. Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease. Eur J Med Genet. 2018;: pubmed publisher
    ..We report two cases where VHL promoter variants were detected and describe the role of multi-step mRNA and protein analysis in the diagnostic evaluation of these cases. ..