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Page 1
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Costain G, Walker S, Marano M, Veenma D, Snell M, Curtis M, Luca S, Buera J, Arje D, Reuter MS, Thiruvahindrapuram B, Trost B, Sung WWL, Yuen RKC, Chitayat D, Mendoza-Londono R, Stavropoulos DJ, Scherer SW, Marshall CR, Cohn RD, Cohen E, Orkin J, Meyn MS, Hayeems RZ. Costain G, et al. Among authors: snell m. JAMA Netw Open. 2020 Sep 1;3(9):e2018109. doi: 10.1001/jamanetworkopen.2020.18109. JAMA Netw Open. 2020. PMID: 32960281 Free PMC article.
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Costain G, et al. Among authors: snell m. Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16. Eur J Hum Genet. 2018. PMID: 29453418 Free PMC article.
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS. Costain G, et al. Among authors: snell m. Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293988 Free article.
Reaching the potential of electron diffraction.
Acehan D, Spoth KA, Budziszewski GR, Snell ME, Campomizzi CS, Lynch ML, Bowman SEJ. Acehan D, et al. Among authors: snell me. Cell Rep Phys Sci. 2024 Jun 19;5(6):102007. doi: 10.1016/j.xcrp.2024.102007. Epub 2024 May 23. Cell Rep Phys Sci. 2024. PMID: 39055735 Free PMC article.
Tumor Stage Mycosis Fungoides with Lymph Node Involvement.
Mills K, Sigler E, Snell M, Regehr J, Moore D Jr, Ablah E, Gilbert L. Mills K, et al. Among authors: snell m. Kans J Med. 2024 Apr 26;17(2):39-40. doi: 10.17161/kjm.vol17.21453. eCollection 2024. Kans J Med. 2024. PMID: 38694178 Free PMC article. No abstract available.
Health and Care Data: Approaches to data linkage for evidence-informed policy.
Panteli D, Polin K, Webb E, Allin S, Barnes A, Degelsegger-Márquez A, Ghafur S, Jamieson M, Kim Y, Litvinova Y, Nimptsch U, Parkkinen M, Rasmussen TA, Reichebner C, Röttger J, Rumball-Smith J, Scarpetti G, Seidler AL, Seppänen J, Smith M, Snell M, Stanimirovic D, Verheij R, Zaletel M, Busse R. Panteli D, et al. Among authors: snell m. Health Syst Transit. 2023 Jul;25(2):1-248. Health Syst Transit. 2023. PMID: 37489953 Free article. Review.
156 results