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Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).
Li MM, Chao E, Esplin ED, Miller DT, Nathanson KL, Plon SE, Scheuner MT, Stewart DR; ACMG Professional Practice and Guidelines Committee. Li MM, et al. Genet Med. 2020 Jul;22(7):1142-1148. doi: 10.1038/s41436-020-0783-8. Epub 2020 Apr 23. Genet Med. 2020. PMID: 32321997 Free article. No abstract available.
American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders.
Cooley LD, Lebo M, Li MM, Slovak ML, Wolff DJ; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee. Cooley LD, et al. Among authors: li mm. Genet Med. 2013 Jun;15(6):484-94. doi: 10.1038/gim.2013.49. Epub 2013 Apr 25. Genet Med. 2013. PMID: 23619274 Free article.
A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers.
Powers J, Pinto EM, Barnoud T, Leung JC, Martynyuk T, Kossenkov AV, Philips AH, Desai H, Hausler R, Kelly G, Le AN, Li MM, MacFarland SP, Pyle LC, Zelley K, Nathanson KL, Domchek SM, Slavin TP, Weitzel JN, Stopfer JE, Garber JE, Joseph V, Offit K, Dolinsky JS, Gutierrez S, McGoldrick K, Couch FJ, Levin B, Edelman MC, Levy CF, Spunt SL, Kriwacki RW, Zambetti GP, Ribeiro RC, Murphy ME, Maxwell KN. Powers J, et al. Among authors: li mm. Cancer Res. 2020 Sep 1;80(17):3732-3744. doi: 10.1158/0008-5472.CAN-20-1390. Epub 2020 Jul 16. Cancer Res. 2020. PMID: 32675277 Free PMC article.
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Li MM, Tayoun AA, DiStefano M, Pandya A, Rehm HL, Robin NH, Schaefer AM, Yoshinaga-Itano C; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Li MM, et al. Genet Med. 2022 Jul;24(7):1392-1406. doi: 10.1016/j.gim.2022.03.018. Epub 2022 May 10. Genet Med. 2022. PMID: 35802133 Free article.
Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.
Stundon JL, Ijaz H, Gaonkar KS, Kaufman RS, Jin R, Karras A, Vaksman Z, Kim J, Corbett RJ, Lueder MR, Miller DP, Guo Y, Santi M, Li M, Lopez G, Storm PB, Resnick AC, Waanders AJ, MacFarland SP, Stewart DR, Diskin SJ, Rokita JL, Cole KA. Stundon JL, et al. Neuro Oncol. 2023 Jul 6;25(7):1331-1342. doi: 10.1093/neuonc/noac278. Neuro Oncol. 2023. PMID: 36541551 Free PMC article.
ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Lee K, Abul-Husn NS, Amendola LM, Brothers KB, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Li M, Ondrasik D, Richards CS, Stergachis A, Stewart DR, Martin CL, Miller DT; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net. Lee K, et al. Genet Med. 2025 Jun 23;27(8):101454. doi: 10.1016/j.gim.2025.101454. Online ahead of print. Genet Med. 2025. PMID: 40568962 No abstract available.
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.
Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN. Li MM, et al. J Mol Diagn. 2017 Jan;19(1):4-23. doi: 10.1016/j.jmoldx.2016.10.002. J Mol Diagn. 2017. PMID: 27993330 Free PMC article. Review.
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF, MacFarland SP, Chang F, Cao K, Rathi KS, Akgumus GT, Gallo D, Lin F, Gleason A, Raman P, Aplenc R, Bagatell R, Minturn J, Mosse Y, Santi M, Tasian SK, Waanders AJ, Sarmady M, Maris JM, Hunger SP, Li MM. Surrey LF, et al. Among authors: li mm. Genome Med. 2019 May 28;11(1):32. doi: 10.1186/s13073-019-0644-8. Genome Med. 2019. PMID: 31133068 Free PMC article.
918 results