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Page 1
Rare penetrant mutations confer severe risk of common diseases.
Fiziev PP, McRae J, Ulirsch JC, Dron JS, Hamp T, Yang Y, Wainschtein P, Ni Z, Schraiber JG, Gao H, Cable D, Field Y, Aguet F, Fasnacht M, Metwally A, Rogers J, Marques-Bonet T, Rehm HL, O'Donnell-Luria A, Khera AV, Farh KK. Fiziev PP, et al. Among authors: ulirsch jc. Science. 2023 Jun 2;380(6648):eabo1131. doi: 10.1126/science.abo1131. Epub 2023 Jun 2. Science. 2023. PMID: 37262146 Free article.
Response to letter to the Editor.
McLean SA, Ulirsch JC, Bortsov AV. McLean SA, et al. Among authors: ulirsch jc. Pain. 2014 Jul;155(7):1416-1418. doi: 10.1016/j.pain.2014.04.014. Epub 2014 Apr 21. Pain. 2014. PMID: 24769188 No abstract available.
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.
Basak A, Hancarova M, Ulirsch JC, Balci TB, Trkova M, Pelisek M, Vlckova M, Muzikova K, Cermak J, Trka J, Dyment DA, Orkin SH, Daly MJ, Sedlacek Z, Sankaran VG. Basak A, et al. Among authors: ulirsch jc. J Clin Invest. 2015 Jun;125(6):2363-8. doi: 10.1172/JCI81163. Epub 2015 May 4. J Clin Invest. 2015. PMID: 25938782 Free PMC article. Clinical Trial.
Inducible Gata1 suppression expands megakaryocyte-erythroid progenitors from embryonic stem cells.
Noh JY, Gandre-Babbe S, Wang Y, Hayes V, Yao Y, Gadue P, Sullivan SK, Chou ST, Machlus KR, Italiano JE Jr, Kyba M, Finkelstein D, Ulirsch JC, Sankaran VG, French DL, Poncz M, Weiss MJ. Noh JY, et al. Among authors: ulirsch jc. J Clin Invest. 2015 Jun;125(6):2369-74. doi: 10.1172/JCI77670. Epub 2015 May 11. J Clin Invest. 2015. PMID: 25961454 Free PMC article.
X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.
Sankaran VG, Ulirsch JC, Tchaikovskii V, Ludwig LS, Wakabayashi A, Kadirvel S, Lindsley RC, Bejar R, Shi J, Lovitch SB, Bishop DF, Steensma DP. Sankaran VG, et al. Among authors: ulirsch jc. J Clin Invest. 2020 Jan 2;130(1):552. doi: 10.1172/JCI132538. J Clin Invest. 2020. PMID: 31895053 Free PMC article. No abstract available.
Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk.
Reshef YA, Finucane HK, Kelley DR, Gusev A, Kotliar D, Ulirsch JC, Hormozdiari F, Nasser J, O'Connor L, van de Geijn B, Loh PR, Grossman SR, Bhatia G, Gazal S, Palamara PF, Pinello L, Patterson N, Adams RP, Price AL. Reshef YA, et al. Among authors: ulirsch jc. Nat Genet. 2018 Oct;50(10):1483-1493. doi: 10.1038/s41588-018-0196-7. Epub 2018 Sep 3. Nat Genet. 2018. PMID: 30177862 Free PMC article.
63 results