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69 results

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Page 1
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL. Riggs ER, et al. Among authors: thorland ec. Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Genet Med. 2020. PMID: 31690835 Free PMC article.
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Miller DT, et al. Among authors: thorland ec. Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Am J Hum Genet. 2010. PMID: 20466091 Free PMC article. Review.
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL. Kaminsky EB, et al. Among authors: thorland ec. Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9. Genet Med. 2011. PMID: 21844811 Free PMC article.
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Gonzales PR, Andersen EF, Brown TR, Horner VL, Horwitz J, Rehder CW, Rudy NL, Robin NH, Thorland EC, On Behalf Of The Acmg Laboratory Quality Assurance Committee. Gonzales PR, et al. Among authors: thorland ec. Genet Med. 2022 Feb;24(2):255-261. doi: 10.1016/j.gim.2021.10.004. Epub 2021 Dec 3. Genet Med. 2022. PMID: 34906464 Free article.
Response to Spurdle et al.
Riggs ER, Andersen EF, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL. Riggs ER, et al. Among authors: thorland ec. Genet Med. 2023 Aug;25(8):100869. doi: 10.1016/j.gim.2023.100869. Epub 2023 Jun 1. Genet Med. 2023. PMID: 37261438 Free article. No abstract available.
Chromosomal microarray impacts clinical management.
Riggs ER, Wain KE, Riethmaier D, Smith-Packard B, Faucett WA, Hoppman N, Thorland EC, Patel VC, Miller DT. Riggs ER, et al. Among authors: thorland ec. Clin Genet. 2014 Feb;85(2):147-53. doi: 10.1111/cge.12107. Epub 2013 Feb 21. Clin Genet. 2014. PMID: 23347240
Response to Maya et al.
Riggs ER, Andersen EF, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL; American College of Medical Genetics and Genomics. Riggs ER, et al. Among authors: thorland ec. Genet Med. 2020 Jul;22(7):1278-1279. doi: 10.1038/s41436-020-0796-3. Epub 2020 Apr 28. Genet Med. 2020. PMID: 32341575 Free article. No abstract available.
Towards an evidence-based process for the clinical interpretation of copy number variation.
Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, Kearney HM, Ledbetter DH, South ST, Thorland EC, Martin CL. Riggs ER, et al. Among authors: thorland ec. Clin Genet. 2012 May;81(5):403-12. doi: 10.1111/j.1399-0004.2011.01818.x. Epub 2011 Dec 13. Clin Genet. 2012. PMID: 22097934 Free PMC article. Review.
69 results