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Trio RNA sequencing in a cohort of medically complex children.
Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ. Deshwar AR, et al. Among authors: meyn ms. Am J Hum Genet. 2023 May 4;110(5):895-900. doi: 10.1016/j.ajhg.2023.03.006. Epub 2023 Mar 28. Am J Hum Genet. 2023. PMID: 36990084 Free PMC article.
Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset.
Chung J, Negm L, Bianchi V, Stengs L, Das A, Liu ZA, Sudhaman S, Aronson M, Brunga L, Edwards M, Forster V, Komosa M, Davidson S, Lees J, Tomboc P, Samuel D, Farah R, Bendel A, Knipstein J, Schneider KW, Reschke A, Zelcer S, Zorzi A, McWilliams R, Foulkes WD, Bedgood R, Peterson L, Rhode S, Van Damme A, Scheers I, Gardner S, Robbins G, Vanan MI, Meyn MS, Auer R, Leach B, Burke C, Villani A, Malkin D, Bouffet E, Huang A, Taylor MD, Durno C, Shlien A, Hawkins C, Getz G, Maruvka YE, Tabori U; International Replication Repair Deficiency Consortium. Chung J, et al. Among authors: meyn ms. J Clin Oncol. 2023 Feb 1;41(4):766-777. doi: 10.1200/JCO.21.02873. Epub 2022 Oct 14. J Clin Oncol. 2023. PMID: 36240479 Free PMC article.
Pharmacogenetic profiling via genome sequencing in children with medical complexity.
Pan A, Scodellaro S, Khan T, Ushcatz I, Wu W, Curtis M, Cohen E, Cohn RD, Hayeems RZ, Meyn MS, Orkin J, Otal J, Reuter MS, Walker S, Scherer SW, Marshall CR, Cohn I, Costain G. Pan A, et al. Among authors: meyn ms. Pediatr Res. 2023 Mar;93(4):905-910. doi: 10.1038/s41390-022-02313-3. Epub 2022 Sep 27. Pediatr Res. 2023. PMID: 36167815 Free PMC article.
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Hayeems RZ, Luca S, Ungar WJ, Venkataramanan V, Tsiplova K, Bashir NS, Costain G, Inglese C, McNiven V, Quercia N, Shugar A, Yoon G, Cytrynbaum C, Dupuis L, Shao Z, Hewson S, Shuman C, Aul R, Liston E, Babul-Hirji R, Bushby A, Pullenayegum E, Chad L, Meyn MS. Hayeems RZ, et al. Among authors: meyn ms. Genet Med. 2022 Feb;24(2):430-438. doi: 10.1016/j.gim.2021.10.005. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906486 Free article.
82 results