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Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, Wick MJ, Pal T, Tischkowitz M, Stewart DR; ACMG Professional Practices and Guidelines Committee. Electronic address: documents@acmg.net. Hanson H, et al. Among authors: amendola lm. Genet Med. 2023 Oct;25(10):100870. doi: 10.1016/j.gim.2023.100870. Epub 2023 Jul 25. Genet Med. 2023. PMID: 37490054
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Clause AR, Taylor JP, Rajkumar R, Bluske K, Bennett M, Amendola LM; ICSL Interpretation and Reporting Team; Bentley DR, Taft RJ, Perry DL, Coffey AJ. Clause AR, et al. Among authors: amendola lm. Cell Genom. 2023 Jan 31;3(2):100258. doi: 10.1016/j.xgen.2023.100258. eCollection 2023 Feb 8. Cell Genom. 2023. PMID: 36819666 Free PMC article.
Satisfaction with Mode of Delivery of Genomic Sequencing Results in a Diverse National Sample of Research Participants through the Clinical Sequencing Evidence-Generating Research Consortium.
Scollon S, Robinson JO, Jo E, Suckiel SA, Amendola LM, Foreman AKM, Jarvik GP, Rini C, Wang T, Slavotinek A. Scollon S, et al. Among authors: amendola lm. Genet Med. 2024 Jun 1:101176. doi: 10.1016/j.gim.2024.101176. Online ahead of print. Genet Med. 2024. PMID: 38832564
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Gordon AS, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Harrison SM, Hershberger RE, Richards CS, Stewart DR, Martin CL, Miller DT; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net. Gordon AS, et al. Among authors: amendola lm. Genet Med. 2024 May 30:101142. doi: 10.1016/j.gim.2024.101142. Online ahead of print. Genet Med. 2024. PMID: 38819344 No abstract available.
Development of a comprehensive cardiovascular disease genetic risk assessment test.
Amendola LM, Coffey AJ, Lowry J, Avecilla J, Malhotra A, Chawla A, Thacker S, Taylor JP, Rajkumar R, Brown CM, Golden-Grant K, Hejja R, Lee JA, Medrano P, Milewski B, Mullen F, Walker A, Huertez-Vasquez A, Longoni M, Perry DL, Hostin D, Ajay SS, Kesari A, Strom SP, Margulies E, Belmont J, Lanfear DE, Taft RJ. Amendola LM, et al. medRxiv [Preprint]. 2024 May 9:2024.05.06.24306379. doi: 10.1101/2024.05.06.24306379. medRxiv. 2024. PMID: 38766118 Free PMC article. Preprint.
Determining the characteristics of genetic disorders that predict inclusion in newborn genomic sequencing programs.
Minten T, Gold NB, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Russell BE, Servais L, Sund KL, Tsipouras P, Bick D, Taft RJ, Green RC; ICoNS Gene List Subcommittee. Minten T, et al. Among authors: amendola lm. medRxiv [Preprint]. 2024 Apr 5:2024.03.24.24304797. doi: 10.1101/2024.03.24.24304797. medRxiv. 2024. PMID: 38585998 Free PMC article. Preprint.
Response to Stern.
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, Wick MJ, Pal T, Tischkowitz M, Stewart DR. Hanson H, et al. Among authors: amendola lm. Genet Med. 2024 Feb;26(2):101030. doi: 10.1016/j.gim.2023.101030. Epub 2023 Dec 29. Genet Med. 2024. PMID: 38156990 No abstract available.
72 results