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Page 1
The Genetic Landscape of Diamond-Blackfan Anemia.
Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. Ulirsch JC, et al. Among authors: kazerounian s. Am J Hum Genet. 2019 Feb 7;104(2):356. doi: 10.1016/j.ajhg.2018.12.011. Am J Hum Genet. 2019. PMID: 30735661 Free PMC article. No abstract available.
The Genetic Landscape of Diamond-Blackfan Anemia.
Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. Ulirsch JC, et al. Among authors: kazerounian s. Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503522 Free PMC article.
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation.
Kim AR, Ulirsch JC, Wilmes S, Unal E, Moraga I, Karakukcu M, Yuan D, Kazerounian S, Abdulhay NJ, King DS, Gupta N, Gabriel SB, Lander ES, Patiroglu T, Ozcan A, Ozdemir MA, Garcia KC, Piehler J, Gazda HT, Klein DE, Sankaran VG. Kim AR, et al. Among authors: kazerounian s. Cell. 2017 Mar 9;168(6):1053-1064.e15. doi: 10.1016/j.cell.2017.02.026. Cell. 2017. PMID: 28283061 Free PMC article.
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
O'Connell AE, Gerashchenko MV, O'Donohue MF, Rosen SM, Huntzinger E, Gleeson D, Galli A, Ryder E, Cao S, Murphy Q, Kazerounian S, Morton SU, Schmitz-Abe K, Gladyshev VN, Gleizes PE, Séraphin B, Agrawal PB. O'Connell AE, et al. Among authors: kazerounian s. PLoS Genet. 2019 Feb 1;15(2):e1007917. doi: 10.1371/journal.pgen.1007917. eCollection 2019 Feb. PLoS Genet. 2019. PMID: 30707697 Free PMC article.
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.
Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB. Joshi M, et al. Among authors: kazerounian s. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000786. doi: 10.1101/mcs.a000786. Cold Spring Harb Mol Case Stud. 2016. PMID: 27148589 Free PMC article.
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
Li Q, Dibus M, Casey A, Yee CSK, Vargas SO, Luo S, Rosen SM, Madden JA, Genetti CA, Brabek J, Brownstein CA, Kazerounian S, Raby BA, Schmitz-Abe K, Kennedy JC, Fishman MP, Mullen MP, Taylor JM, Rosel D, Agrawal PB. Li Q, et al. Among authors: kazerounian s. PLoS Genet. 2021 Jul 7;17(7):e1009639. doi: 10.1371/journal.pgen.1009639. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34232960 Free PMC article.
55 results