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Page 1
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR; FORGE Canada Consortium; Hall DA, Dell SD, Kim RH. Marshall CR, et al. Among authors: kim rh. G3 (Bethesda). 2015 Jul 2;5(8):1775-81. doi: 10.1534/g3.115.019851. G3 (Bethesda). 2015. PMID: 26139845 Free PMC article.
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS. Reuter MS, et al. Among authors: kim rh. Genet Med. 2019 Apr;21(4):1001-1007. doi: 10.1038/s41436-018-0260-9. Epub 2018 Sep 20. Genet Med. 2019. PMID: 30232381 Free PMC article.
Return of genetic and genomic research findings: experience of a pediatric biorepository.
Papaz T, Liston E, Zahavich L, Stavropoulos DJ, Jobling RK, Kim RH, Reuter M, Miron A, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano-Diaz L, Lougheed J, Yao R, Akinrinade O, Breckpot J, Mital S. Papaz T, et al. Among authors: kim rh. BMC Med Genomics. 2019 Nov 27;12(1):173. doi: 10.1186/s12920-019-0618-0. BMC Med Genomics. 2019. PMID: 31775751 Free PMC article.
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Manshaei R, Merico D, Reuter MS, Engchuan W, Mojarad BA, Chaturvedi R, Heung T, Pellecchia G, Zarrei M, Nalpathamkalam T, Khan R, Okello JBA, Liston E, Curtis M, Yuen RKC, Marshall CR, Jobling RK, Oechslin E, Wald RM, Silversides CK, Scherer SW, Kim RH, Bassett AS. Manshaei R, et al. Among authors: kim rh. Front Genet. 2020 Sep 15;11:957. doi: 10.3389/fgene.2020.00957. eCollection 2020. Front Genet. 2020. PMID: 33110418 Free PMC article.
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis.
Jegathisawaran J, Tsiplova K, Hayeems RZ, Marshall CR, Stavropoulos DJ, Pereira SL, Thiruvahindrapuram B, Liston E, Reuter MS, Manshaei R, Cohn I, Jobling R, Kim RH, Mital S, Ungar WJ. Jegathisawaran J, et al. Among authors: kim rh. Genet Med. 2022 May;24(5):1027-1036. doi: 10.1016/j.gim.2022.01.020. Epub 2022 Feb 24. Genet Med. 2022. PMID: 35219592 Free article.
A Model for the Integration of Genome Sequencing Into a Pediatric Cardiology Clinic.
Liston EJ, Kalbfleisch KJ, Stanley KJ, Chaturvedi RR, Cohn I, Farncombe KM, Hayeems RZ, Schwartz MLB, Somerville CB, Kim RH, Jobling RK. Liston EJ, et al. Among authors: kim rh. Can J Cardiol. 2022 Sep;38(9):1454-1457. doi: 10.1016/j.cjca.2022.04.015. Epub 2022 Apr 22. Can J Cardiol. 2022. PMID: 35469975 Free article. No abstract available.
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
Ding Q, Somerville C, Manshaei R, Trost B, Reuter MS, Kalbfleisch K, Stanley K, Okello JBA, Hosseini SM, Liston E, Curtis M, Zarrei M, Higginbotham EJ, Chan AJS, Engchuan W, Thiruvahindrapuram B, Scherer SW, Kim RH, Jobling RK. Ding Q, et al. Among authors: kim rh. Hum Genet. 2023 Feb;142(2):201-216. doi: 10.1007/s00439-022-02494-1. Epub 2022 Nov 14. Hum Genet. 2023. PMID: 36376761 Free PMC article.
527 results