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Items: 1 to 20 of 73

1.

A chance to cut (the genome) is a chance to cure.

Montbleau KE, Sankaran VG.

Blood. 2018 Apr 26;131(17):1884-1885. doi: 10.1182/blood-2018-03-839787. No abstract available.

2.

Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research.

Musunuru K, Bernstein D, Cole FS, Khokha MK, Lee FS, Lin S, McDonald TV, Moskowitz IP, Quertermous T, Sankaran VG, Schwartz DA, Silverman EK, Zhou X, Hasan AAK, Luo XJ.

Circ Genom Precis Med. 2018 Apr;11(4):e002178. doi: 10.1161/CIRCGEN.118.002178. Review.

PMID:
29654098
3.

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

Raffield LM, Ulirsch JC, Naik RP, Lessard S, Handsaker RE, Jain D, Kang HM, Pankratz N, Auer PL, Bao EL, Smith JD, Lange LA, Lange EM, Li Y, Thornton TA, Young BA, Abecasis GR, Laurie CC, Nickerson DA, McCarroll SA, Correa A, Wilson JG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Hematology & Hemostasis, Diabetes, and Structural Variation TOPMed Working Groups, Lettre G, Sankaran VG, Reiner AP.

PLoS Genet. 2018 Mar 28;14(3):e1007293. doi: 10.1371/journal.pgen.1007293. eCollection 2018 Mar.

4.

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis.

Khajuria RK, Munschauer M, Ulirsch JC, Fiorini C, Ludwig LS, McFarland SK, Abdulhay NJ, Specht H, Keshishian H, Mani DR, Jovanovic M, Ellis SR, Fulco CP, Engreitz JM, Schütz S, Lian J, Gripp KW, Weinberg OK, Pinkus GS, Gehrke L, Regev A, Lander ES, Gazda HT, Lee WY, Panse VG, Carr SA, Sankaran VG.

Cell. 2018 Mar 22;173(1):90-103.e19. doi: 10.1016/j.cell.2018.02.036. Epub 2018 Mar 15.

PMID:
29551269
5.

Ribonuclease inhibitor 1 regulates erythropoiesis by controlling GATA1 translation.

Chennupati V, Veiga DF, Maslowski KM, Andina N, Tardivel A, Yu EC, Stilinovic M, Simillion C, Duchosal MA, Quadroni M, Roberts I, Sankaran VG, MacDonald HR, Fasel N, Angelillo-Scherrer A, Schneider P, Hoang T, Allam R.

J Clin Invest. 2018 Apr 2;128(4):1597-1614. doi: 10.1172/JCI94956. Epub 2018 Mar 19.

6.

Thrombopoietin: tickling the HSC's fancy.

Kim AR, Sankaran VG.

EMBO Mol Med. 2018 Jan;10(1):10-12. doi: 10.15252/emmm.201708450. No abstract available.

7.

Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia.

Steinberg-Shemer O, Ulirsch JC, Noy-Lotan S, Krasnov T, Attias D, Dgany O, Laor R, Sankaran VG, Tamary H.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a001941. doi: 10.1101/mcs.a001941. Print 2017 Nov.

8.

Confounding in ex vivo models of Diamond-Blackfan anemia.

Ulirsch JC, Lareau C, Ludwig LS, Mohandas N, Nathan DG, Sankaran VG.

Blood. 2017 Aug 31;130(9):1165-1168. doi: 10.1182/blood-2017-05-783191. Epub 2017 Jun 14. No abstract available.

9.

Developmentally-faithful and effective human erythropoiesis in immunodeficient and Kit mutant mice.

Fiorini C, Abdulhay NJ, McFarland SK, Munschauer M, Ulirsch JC, Chiarle R, Sankaran VG.

Am J Hematol. 2017 Sep;92(9):E513-E519. doi: 10.1002/ajh.24805. Epub 2017 Jul 19.

10.

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.

Cell. 2017 Mar 9;168(6):1053-1064.e15. doi: 10.1016/j.cell.2017.02.026.

11.

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms.

Guo MH, Nandakumar SK, Ulirsch JC, Zekavat SM, Buenrostro JD, Natarajan P, Salem RM, Chiarle R, Mitt M, Kals M, Pärn K, Fischer K, Milani L, Mägi R, Palta P, Gabriel SB, Metspalu A, Lander ES, Kathiresan S, Hirschhorn JN, Esko T, Sankaran VG.

Proc Natl Acad Sci U S A. 2017 Jan 17;114(3):E327-E336. doi: 10.1073/pnas.1619052114. Epub 2016 Dec 28.

12.

Unexpected role for p19INK4d in posttranscriptional regulation of GATA1 and modulation of human terminal erythropoiesis.

Han X, Zhang J, Peng Y, Peng M, Chen X, Chen H, Song J, Hu X, Ye M, Li J, Sankaran VG, Hillyer CD, Mohandas N, An X, Liu J.

Blood. 2017 Jan 12;129(2):226-237. doi: 10.1182/blood-2016-09-739268. Epub 2016 Nov 22.

13.

Emerging cellular and gene therapies for congenital anemias.

Ludwig LS, Khajuria RK, Sankaran VG.

Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):332-348. doi: 10.1002/ajmg.c.31529. Epub 2016 Oct 28. Review.

14.

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult.

Narla A, Yuan D, Kazerounian S, LaVasseur C, Ulirsch JC, Narla J, Glader B, Sankaran VG, Gazda H.

Blood Cells Mol Dis. 2016 Oct;61:46-7. doi: 10.1016/j.bcmd.2016.08.001. Epub 2016 Aug 17. No abstract available.

PMID:
27667165
15.

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.

Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJA, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Walter K, Chen L, Yanek L, Becker LC, Peloso GM, Wakabayashi A, Kals M, Metspalu A, Esko T, Fox K, Wallace R, Franceschini N, Matijevic N, Rice KM, Bartz TM, Lyytikäinen LP, Kähönen M, Lehtimäki T, Raitakari OT, Li-Gao R, Mook-Kanamori DO, Lettre G, van Duijn CM, Franco OH, Rich SS, Rivadeneira F, Hofman A, Uitterlinden AG, Wilson JG, Psaty BM, Soranzo N, Dehghan A, Boerwinkle E, Zhang X, Johnson AD, O'Donnell CJ, Johnsen JM, Reiner AP, Ganesh SK, Sankaran VG.

Am J Hum Genet. 2016 Sep 1;99(3):785. doi: 10.1016/j.ajhg.2016.08.002. Epub 2016 Sep 1. No abstract available.

16.

Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations.

Abdulhay N, Fiorini C, Kumánovics A, Sun AA, Hansen-Rejali J, Voelkerding KV, Rosenzweig SD, Hill HR, Sankaran VG.

Blood. 2016 Oct 20;128(16):2100-2103. doi: 10.1182/blood-2016-08-731943. Epub 2016 Aug 31. No abstract available.

17.

Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia.

Lacy JN, Ulirsch JC, Grace RF, Towne MC, Hale J, Mohandas N, Lux SE 4th, Agrawal PB, Sankaran VG.

Cold Spring Harb Mol Case Stud. 2016 Jul;2(4):a000885. doi: 10.1101/mcs.a000885.

18.

The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.

Fukuda Y, Cheong PL, Lynch J, Brighton C, Frase S, Kargas V, Rampersaud E, Wang Y, Sankaran VG, Yu B, Ney PA, Weiss MJ, Vogel P, Bond PJ, Ford RC, Trent RJ, Schuetz JD.

Nat Commun. 2016 Aug 10;7:12353. doi: 10.1038/ncomms12353.

19.

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.

Polfus LM, Khajuria RK, Schick UM, Pankratz N, Pazoki R, Brody JA, Chen MH, Auer PL, Floyd JS, Huang J, Lange L, van Rooij FJ, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Walter K, Chen L, Yanek L, Becker LC, Peloso GM, Wakabayashi A, Kals M, Metspalu A, Esko T, Fox K, Wallace R, Franceschini N, Matijevic N, Rice KM, Bartz TM, Lyytikäinen LP, Kähönen M, Lehtimäki T, Raitakari OT, Li-Gao R, Mook-Kanamori DO, Lettre G, van Duijn CM, Franco OH, Rich SS, Rivadeneira F, Hofman A, Uitterlinden AG, Wilson JG, Psaty BM, Soranzo N, Dehghan A, Boerwinkle E, Zhang X, Johnson AD, O'Donnell CJ, Johnsen JM, Reiner AP, Ganesh SK, Sankaran VG.

Am J Hum Genet. 2016 Aug 4;99(2):481-8. doi: 10.1016/j.ajhg.2016.06.016. Erratum in: Am J Hum Genet. 2016 Sep 1;99(3):785.

20.

Adenosine-to-inosine RNA editing by ADAR1 is essential for normal murine erythropoiesis.

Liddicoat BJ, Hartner JC, Piskol R, Ramaswami G, Chalk AM, Kingsley PD, Sankaran VG, Wall M, Purton LE, Seeburg PH, Palis J, Orkin SH, Lu J, Li JB, Walkley CR.

Exp Hematol. 2016 Oct;44(10):947-63. doi: 10.1016/j.exphem.2016.06.250. Epub 2016 Jul 1.

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