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Page 1
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.
Deignan JL, Aggarwal V, Bale AE, Bellissimo DB, Booker JK, Cao Y, Crooks KR, Deak KL, Del Gaudio D, Funke B, Hoppman NL, Horner V, Hufnagel RB, Jackson-Cook C, Koduru P, Leung ML, Li S, Liu P, Luo M, Mao R, Mason-Suares H, Mikhail FM, Moore SR, Naeem RC, Pollard LM, Repnikova EA, Shao L, Shaw BM, Shetty S, Smolarek TA, Spiteri E, Van Ziffle J, Vance GH, Vnencak-Jones CL, Williams ES. Deignan JL, et al. Genet Med Open. 2024;2:101820. doi: 10.1016/j.gimo.2024.101820. Epub 2024 Feb 1. Genet Med Open. 2024. PMID: 39175871 Free PMC article.
ACMG clinical laboratory standards for next-generation sequencing.
Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee. Rehm HL, et al. Among authors: deignan jl. Genet Med. 2013 Sep;15(9):733-47. doi: 10.1038/gim.2013.92. Epub 2013 Jul 25. Genet Med. 2013. PMID: 23887774 Free PMC article.
Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.
Baudhuin LM, Funke BH, Bean LH, Deignan JL, Hofherr S, Miller DT, Nagan N, Santani A, Saunders C. Baudhuin LM, et al. Among authors: deignan jl. Clin Chem. 2016 Jun;62(6):799-806. doi: 10.1373/clinchem.2015.247874. Epub 2016 Feb 9. Clin Chem. 2016. PMID: 26861553 No abstract available.
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
Eno C, Bayrak-Toydemir P, Bean L, Braxton A, Chao EC, El-Khechen D, Esplin ED, Friedman B, Hagman KDF, Hambuch T, Hernandez A, Juusola J, Londre G, Machado J, Mao R, Mighion L, Rehm HL, Ward P, Deignan JL. Eno C, et al. Among authors: deignan jl. Genet Med. 2019 Apr;21(4):861-866. doi: 10.1038/s41436-018-0265-4. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214068 Free article.
Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL, Chao E, Gannon JL, Greely HT, Hagman KDF, Mao R, Topper S; ACMG Laboratory Quality Assurance Committee. Deignan JL, et al. Genet Med. 2020 Aug;22(8):1285-1287. doi: 10.1038/s41436-020-0821-6. Epub 2020 May 14. Genet Med. 2020. PMID: 32404921 Free article. No abstract available.
Clinical Exome Reanalysis: Current Practice and Beyond.
Ji J, Leung ML, Baker S, Deignan JL, Santani A. Ji J, et al. Among authors: deignan jl. Mol Diagn Ther. 2021 Sep;25(5):529-536. doi: 10.1007/s40291-021-00541-7. Epub 2021 Jul 20. Mol Diagn Ther. 2021. PMID: 34283395 Free PMC article. Review.
Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL, De Castro M, Horner VL, Johnston T, Macaya D, Maleszewski JJ, Reddi HV, Tayeh MK; ACMG Laboratory Quality Assurance Committee. Electronic address: [email protected]. Deignan JL, et al. Genet Med. 2023 May;25(5):100017. doi: 10.1016/j.gim.2023.100017. Epub 2023 Feb 16. Genet Med. 2023. PMID: 36799919 Free article. No abstract available.
60 results