Raymond H Kim
Affiliation: University of Toronto
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). ..
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. ..
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. ..