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Items: 1 to 50 of 88

1.

The genetics of human hematopoiesis and its disruption in disease.

Bao EL, Cheng AN, Sankaran VG.

EMBO Mol Med. 2019 Aug;11(8):e10316. doi: 10.15252/emmm.201910316. Epub 2019 Jul 17. Review.

2.

Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia.

Cheng AN, Bao EL, Fiorini C, Sankaran VG.

Pediatr Blood Cancer. 2019 Sep;66(9):e27874. doi: 10.1002/pbc.27874. Epub 2019 Jun 17.

PMID:
31207059
3.

Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis.

Ludwig LS, Lareau CA, Bao EL, Nandakumar SK, Muus C, Ulirsch JC, Chowdhary K, Buenrostro JD, Mohandas N, An X, Aryee MJ, Regev A, Sankaran VG.

Cell Rep. 2019 Jun 11;27(11):3228-3240.e7. doi: 10.1016/j.celrep.2019.05.046.

4.

A chance encounter changes everything.

Sankaran VG.

Nat Med. 2019 Jun;25(6):869. doi: 10.1038/s41591-019-0418-2. No abstract available.

PMID:
31171867
5.

Topological control of cytokine receptor signaling induces differential effects in hematopoiesis.

Mohan K, Ueda G, Kim AR, Jude KM, Fallas JA, Guo Y, Hafer M, Miao Y, Saxton RA, Piehler J, Sankaran VG, Baker D, Garcia KC.

Science. 2019 May 24;364(6442). pii: eaav7532. doi: 10.1126/science.aav7532. Epub 2019 May 23.

PMID:
31123111
6.

Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis.

Nandakumar SK, McFarland SK, Mateyka LM, Lareau CA, Ulirsch JC, Ludwig LS, Agarwal G, Engreitz JM, Przychodzen B, McConkey M, Cowley GS, Doench JG, Maciejewski JP, Ebert BL, Root DE, Sankaran VG.

Elife. 2019 May 9;8. pii: e44080. doi: 10.7554/eLife.44080.

7.

HRI coordinates translation necessary for protein homeostasis and mitochondrial function in erythropoiesis.

Zhang S, Macias-Garcia A, Ulirsch JC, Velazquez J, Butty VL, Levine SS, Sankaran VG, Chen JJ.

Elife. 2019 Apr 29;8. pii: e46976. doi: 10.7554/eLife.46976.

8.

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation.

Abdulhay NJ, Fiorini C, Verboon JM, Ludwig LS, Ulirsch JC, Zieger B, Lareau CA, Mi X, Roy A, Obeng EA, Erlacher M, Gupta N, Gabriel SB, Ebert BL, Niemeyer CM, Khoriaty RN, Ancliff P, Gazda HT, Wlodarski MW, Sankaran VG.

J Exp Med. 2019 May 6;216(5):1050-1060. doi: 10.1084/jem.20181625. Epub 2019 Mar 26.

9.

Deubiquitylase USP7 regulates human terminal erythroid differentiation by stabilizing GATA1.

Liang L, Peng Y, Zhang J, Zhang Y, Roy M, Han X, Xiao X, Sun S, Liu H, Nie L, Kuang Y, Zhu Z, Deng J, Xia Y, Sankaran VG, Hillyer CD, Mohandas N, Ye M, An X, Liu J.

Haematologica. 2019 Nov;104(11):2178-2187. doi: 10.3324/haematol.2018.206227. Epub 2019 Mar 14.

10.

Interrogation of human hematopoiesis at single-cell and single-variant resolution.

Ulirsch JC, Lareau CA, Bao EL, Ludwig LS, Guo MH, Benner C, Satpathy AT, Kartha VK, Salem RM, Hirschhorn JN, Finucane HK, Aryee MJ, Buenrostro JD, Sankaran VG.

Nat Genet. 2019 Apr;51(4):683-693. doi: 10.1038/s41588-019-0362-6. Epub 2019 Mar 11.

11.

Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics.

Ludwig LS, Lareau CA, Ulirsch JC, Christian E, Muus C, Li LH, Pelka K, Ge W, Oren Y, Brack A, Law T, Rodman C, Chen JH, Boland GM, Hacohen N, Rozenblatt-Rosen O, Aryee MJ, Buenrostro JD, Regev A, Sankaran VG.

Cell. 2019 Mar 7;176(6):1325-1339.e22. doi: 10.1016/j.cell.2019.01.022. Epub 2019 Feb 28.

PMID:
30827679
12.

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.

Am J Hum Genet. 2019 Feb 7;104(2):356. doi: 10.1016/j.ajhg.2018.12.011. No abstract available.

13.

Heritability of fetal hemoglobin, white cell count, and other clinical traits from a sickle cell disease family cohort.

Bao EL, Lareau CA, Brugnara C, Fulcher IR, Barau C, Moutereau S, Habibi A, Badaoui B, Berkenou J, Bartolucci P, Galactéros F, Platt OS, Mahaney M, Sankaran VG.

Am J Hematol. 2019 May;94(5):522-527. doi: 10.1002/ajh.25421. Epub 2019 Feb 6.

PMID:
30680775
14.

A mummy emerges from the grave: Scurvy confounding the clinical presentation of a child with Fanconi anemia.

Ozcan A, Saracoglu S, Verboon JM, Karakukcu M, Patiroglu T, Coskun A, Sankaran VG, Unal E.

Am J Hematol. 2019 Apr;94(4):506-507. doi: 10.1002/ajh.25402. Epub 2019 Jan 25. No abstract available.

PMID:
30637794
15.

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.

Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. Erratum in: Am J Hum Genet. 2019 Feb 7;104(2):356.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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.

21.

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.

22.

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.

23.

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.

24.

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.

25.

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.

26.

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.

27.

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.

28.

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.

29.

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
30.

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.

31.

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.

32.

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.

33.

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.

34.

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.

35.

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.

36.

Development of autologous blood cell therapies.

Kim AR, Sankaran VG.

Exp Hematol. 2016 Oct;44(10):887-94. doi: 10.1016/j.exphem.2016.06.005. Epub 2016 Jun 21. Review.

37.

Defining the Minimal Factors Required for Erythropoiesis through Direct Lineage Conversion.

Capellera-Garcia S, Pulecio J, Dhulipala K, Siva K, Rayon-Estrada V, Singbrant S, Sommarin MN, Walkley CR, Soneji S, Karlsson G, Raya Á, Sankaran VG, Flygare J.

Cell Rep. 2016 Jun 14;15(11):2550-62. doi: 10.1016/j.celrep.2016.05.027. Epub 2016 Jun 2.

38.

Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits.

Ulirsch JC, Nandakumar SK, Wang L, Giani FC, Zhang X, Rogov P, Melnikov A, McDonel P, Do R, Mikkelsen TS, Sankaran VG.

Cell. 2016 Jun 2;165(6):1530-1545. doi: 10.1016/j.cell.2016.04.048.

39.

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.

Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000786. doi: 10.1101/mcs.a000786.

40.

Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders.

Wakabayashi A, Ulirsch JC, Ludwig LS, Fiorini C, Yasuda M, Choudhuri A, McDonel P, Zon LI, Sankaran VG.

Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4434-9. doi: 10.1073/pnas.1521754113. Epub 2016 Apr 4.

41.

Regulation of the fetal hemoglobin silencing factor BCL11A.

Basak A, Sankaran VG.

Ann N Y Acad Sci. 2016 Mar;1368(1):25-30. doi: 10.1111/nyas.13024. Epub 2016 Mar 9. Review.

42.

Advances in understanding erythropoiesis: evolving perspectives.

Nandakumar SK, Ulirsch JC, Sankaran VG.

Br J Haematol. 2016 Apr;173(2):206-18. doi: 10.1111/bjh.13938. Epub 2016 Feb 5. Review.

43.

Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization.

Sabath DE, Bender MA, Sankaran VG, Vamos E, Kentsis A, Yi HS, Greisman HA.

J Mol Diagn. 2016 Jan;18(1):92-9. doi: 10.1016/j.jmoldx.2015.07.011. Epub 2015 Nov 21.

44.

Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells.

Giani FC, Fiorini C, Wakabayashi A, Ludwig LS, Salem RM, Jobaliya CD, Regan SN, Ulirsch JC, Liang G, Steinberg-Shemer O, Guo MH, Esko T, Tong W, Brugnara C, Hirschhorn JN, Weiss MJ, Zon LI, Chou ST, French DL, Musunuru K, Sankaran VG.

Cell Stem Cell. 2016 Jan 7;18(1):73-78. doi: 10.1016/j.stem.2015.09.015. Epub 2015 Oct 22.

45.

Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis-what patients can teach us about blood cell production.

Wakabayashi A, Sankaran VG.

Pediatr Res. 2016 Mar;79(3):366-70. doi: 10.1038/pr.2015.245. Epub 2015 Nov 17. Review.

PMID:
26575596
46.

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.

J Clin Invest. 2015 Jun;125(6):2369-74. doi: 10.1172/JCI77670. Epub 2015 May 11.

47.

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.

J Clin Invest. 2015 Jun;125(6):2363-8. doi: 10.1172/JCI81163. Epub 2015 May 4.

48.

Anemia: progress in molecular mechanisms and therapies.

Sankaran VG, Weiss MJ.

Nat Med. 2015 Mar;21(3):221-30. doi: 10.1038/nm.3814. Review.

49.

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.

J Clin Invest. 2015 Apr;125(4):1665-9. doi: 10.1172/JCI78619. Epub 2015 Feb 23.

50.

Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis.

Ludwig LS, Cho H, Wakabayashi A, Eng JC, Ulirsch JC, Fleming MD, Lodish HF, Sankaran VG.

Am J Hematol. 2015 May;90(5):386-91. doi: 10.1002/ajh.23952. Epub 2015 Feb 5.

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