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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: schreiber aw. 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.
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: schreiber aw. Bioinformatics. 2013 Sep 15;29(18):2223-30. doi: 10.1093/bioinformatics/btt375. Epub 2013 Jul 9. Bioinformatics. 2013. PMID: 23842810 Free PMC article.
A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone.
Hahn CN, Ross DM, Feng J, Beligaswatte A, Hiwase DK, Parker WT, Ho M, Zawitkowski M, Ambler KL, Cheetham GD, Lee YK, Babic M, Butcher CM, Engler GA, Brown AL, D'Andrea RJ, Lewis ID, Schreiber AW, To LB, Scott HS. Hahn CN, et al. Among authors: schreiber aw. Leukemia. 2015 Oct;29(10):2101-4. doi: 10.1038/leu.2015.67. Epub 2015 Mar 9. Leukemia. 2015. PMID: 25748685 Free PMC article. No abstract available.
The RNA binding protein quaking regulates formation of circRNAs.
Conn SJ, Pillman KA, Toubia J, Conn VM, Salmanidis M, Phillips CA, Roslan S, Schreiber AW, Gregory PA, Goodall GJ. Conn SJ, et al. Among authors: schreiber aw. Cell. 2015 Mar 12;160(6):1125-34. doi: 10.1016/j.cell.2015.02.014. Cell. 2015. PMID: 25768908 Free article.
Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene.
Ross DM, Altamura HK, Hahn CN, Nicola M, Yeoman AL, Holloway MR, Geoghegan J, Feng J, Schreiber AW, Branford S, Moore S, Scott HS. Ross DM, et al. Among authors: schreiber aw. Leukemia. 2016 Jun;30(6):1402-5. doi: 10.1038/leu.2015.301. Epub 2015 Oct 27. Leukemia. 2016. PMID: 26503642 No abstract available.
BAM-matcher: a tool for rapid NGS sample matching.
Wang PP, Parker WT, Branford S, Schreiber AW. Wang PP, et al. Among authors: schreiber aw. Bioinformatics. 2016 Sep 1;32(17):2699-701. doi: 10.1093/bioinformatics/btw239. Epub 2016 May 3. Bioinformatics. 2016. PMID: 27153667
Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.
Venugopal P, Moore S, Lawrence DM, George AJ, Hannan RD, Bray SC, To LB, D'Andrea RJ, Feng J, Tirimacco A, Yeoman AL, Young CC, Fine M, Schreiber AW, Hahn CN, Barnett C, Saxon B, Scott HS. Venugopal P, et al. Among authors: schreiber aw. Haematologica. 2017 Dec;102(12):e506-e509. doi: 10.3324/haematol.2017.166678. Epub 2017 Sep 29. Haematologica. 2017. PMID: 28971907 Free PMC article. No abstract available.
63 results