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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Among authors: scott hs. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS. Hahn CN, et al. Among authors: scott hs. Nat Genet. 2011 Sep 4;43(10):1012-7. doi: 10.1038/ng.913. Nat Genet. 2011. PMID: 21892162 Free PMC article.
A comparative analysis of algorithms for somatic SNV detection in cancer.
Roberts ND, Kortschak RD, Parker WT, Schreiber AW, Branford S, Scott HS, Glonek G, Adelson DL. Roberts ND, et al. Among authors: scott hs. Bioinformatics. 2013 Sep 15;29(18):2223-30. doi: 10.1093/bioinformatics/btt375. Epub 2013 Jul 9. Bioinformatics. 2013. PMID: 23842810 Free PMC article.
291 results