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Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.
Wahlster L, Verboon JM, Ludwig LS, Black SC, Luo W, Garg K, Voit RA, Collins RL, Garimella K, Costello M, Chao KR, Goodrich JK, DiTroia SP, O'Donnell-Luria A, Talkowski ME, Michelson AD, Cantor AB, Sankaran VG. Wahlster L, et al. Among authors: michelson ad. J Exp Med. 2021 Jun 7;218(6):e20210444. doi: 10.1084/jem.20210444. J Exp Med. 2021. PMID: 33857290 Free PMC article.
The variant call format and VCFtools.
Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G, Durbin R; 1000 Genomes Project Analysis Group. Danecek P, et al. Bioinformatics. 2011 Aug 1;27(15):2156-8. doi: 10.1093/bioinformatics/btr330. Epub 2011 Jun 7. Bioinformatics. 2011. PMID: 21653522 Free PMC article.
Fine-scale patterns of population stratification confound rare variant association tests.
O'Connor TD, Kiezun A, Bamshad M, Rich SS, Smith JD, Turner E; NHLBIGO Exome Sequencing Project; ESP Population Genetics, Statistical Analysis Working Group; Leal SM, Akey JM. O'Connor TD, et al. PLoS One. 2013 Jul 4;8(7):e65834. doi: 10.1371/journal.pone.0065834. Print 2013. PLoS One. 2013. PMID: 23861739 Free PMC article.
Platelet Activation and Reactivity in a Large Cohort of Patients with Gaucher Disease.
Revel-Vilk S, Naamad M, Frydman D, Freund MR, Dinur T, Istaiti M, Becker-Cohen M, Falk R, Broide E, Michelson AD, Frelinger AL 3rd, Zimran A. Revel-Vilk S, et al. Among authors: michelson ad. Thromb Haemost. 2022 Jun;122(6):951-960. doi: 10.1055/a-1642-4206. Epub 2021 Nov 5. Thromb Haemost. 2022. PMID: 34507369
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Sims MC, Mayer L, Collins JH, Bariana TK, Megy K, Lavenu-Bombled C, Seyres D, Kollipara L, Burden FS, Greene D, Lee D, Rodriguez-Romera A, Alessi MC, Astle WJ, Bahou WF, Bury L, Chalmers E, Da Silva R, De Candia E, Deevi SVV, Farrow S, Gomez K, Grassi L, Greinacher A, Gresele P, Hart D, Hurtaud MF, Kelly AM, Kerr R, Le Quellec S, Leblanc T, Leinøe EB, Mapeta R, McKinney H, Michelson AD, Morais S, Nugent D, Papadia S, Park SJ, Pasi J, Podda GM, Poon MC, Reed R, Sekhar M, Shalev H, Sivapalaratnam S, Steinberg-Shemer O, Stephens JC, Tait RC, Turro E, Wu JKM, Zieger B; NIHR BioResource; Kuijpers TW, Whetton AD, Sickmann A, Freson K, Downes K, Erber WN, Frontini M, Nurden P, Ouwehand WH, Favier R, Guerrero JA. Sims MC, et al. Among authors: michelson ad. Blood. 2020 Oct 22;136(17):1956-1967. doi: 10.1182/blood.2019004776. Blood. 2020. PMID: 32693407 Free PMC article.
244 results