Biblio

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Journal Article

L Liggett A, Cato LD, Weinstock JS, Zhang Y, S Nouraie M, Gladwin MT, Garrett ME, Ashley-Koch A, Telen M, Custer B, et al. Clonal hematopoiesis in sickle cell disease. J Clin Invest. 2022.

Ludwig L, Lareau CA, Bao EL, Liu N, Utsugisawa T, Tseng AM, Myers SA, Verboon JM, Ulirsch JC, Luo W, et al. A Congenital Anemia Reveals Distinct Targeting Mechanisms for Master Transcription Factor GATA1. Blood. 2022.

Weng C, Yu F, Yang D, Poeschla M, L Liggett A, Jones MG, Qiu X, Wahlster L, Caulier A, Hussmann JA, et al. Deciphering cell states and genealogies of human hematopoiesis. Nature. 2024.

Vitrano A, Musallam KM, Meloni A, Karimi M, Daar S, Ricchi P, Costantini S, Vlachaki E, Di Marco V, El-Beshlawy A, et al. Development of a Thalassemia International Prognostic Scoring System (TIPSS). Blood Cells Mol Dis. 2022;99:102710.

Lu HY, Orkin SH, Sankaran VG. Fetal Hemoglobin Regulation in Beta-Thalassemia. Hematol Oncol Clin North Am. 2023;37(2):301-312.

Voit RA, Tao L, Yu F, Cato LD, Cohen B, Fleming TJ, Antoszewski M, Liao X, Fiorini C, Nandakumar SK, et al. A genetic disorder reveals a hematopoietic stem cell regulatory network co-opted in leukemia. Nat Immunol. 2022.

Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett D, Barnes K, et al. Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. medRxiv. 2024.

Hasle H, Kline RM, Kjeldsen E, Nik-Abdul-Rashid NF, Bhojwani D, Verboon JM, DiTroia SP, Chao KR, Raaschou-Jensen K, Palle J, et al. Germline GATA1s generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype. Blood. 2021.

Zhao J, Jia Y, Mahmut D, Deik AA, Jeanfavre S, Clish CB, Sankaran VG. Human hematopoietic stem cell vulnerability to ferroptosis. Cell. 2023;186(4):732-747.e16.

Nandakumar SK, Liao X, Sankaran VG. In The Blood: Connecting Variant to Function In Human Hematopoiesis. Trends Genet. 2020.

Zhao J, Cato LD, Arora UP, Bao EL, Bryant SC, Williams N, Jia Y, Goldman SR, Nangalia J, Erb MA, et al. Inherited blood cancer predisposition through altered transcription elongation. Cell. 2024.

Wakabayashi A, Ulirsch JC, Ludwig LS, Fiorini C, Yasuda M, Choudhuri A, McDonel P, Zon LI, Sankaran VG. Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders. Proc Natl Acad Sci U S A. 2016.

Lareau CA, Ludwig LS, Sankaran VG. Longitudinal assessment of clonal mosaicism in humanhematopoiesis via mitochondrial mutation tracking. Blood Adv. 2019;3(24):4161-4165.

Cheng AN, Bao EL, Fiorini C, Sankaran VG. Macrothrombocytopenia associated with a rare GFI1B missense variant confounding the presentation of immune thrombocytopenia. Pediatr Blood Cancer. 2019:e27874.

Martin-Rufino JD, Castano N, Pang M, Grody EI, Joubran S, Caulier A, Wahlster L, Li T, Qiu X, Riera-Escandell AMaria, et al. Massively parallel base editing to map variant effects in human hematopoiesis. Cell. 2023.

Alsavaf MBilal, Verboon JM, Dogan ME, Azizoglu ZBusra, Okus FZehra, Ozcan A, Dundar M, Eken A, Donmez-Altuntas H, Sankaran VG, et al. A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome. Br J Haematol. 2022.

Shen Y, Li R, Teichert K, Montbleau KE, Verboon JM, Voit RA, Sankaran VG. Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing. PLoS Genet. 2021;17(10):e1009835.

Musallam KM, Vitrano A, Meloni A, Pollina SAddario, Karimi M, El-Beshlawy A, Hajipour M, Di Marco V, Ansari SHussain, Filosa A, et al. Risk of mortality from anemia and iron overload in non-transfusion-dependent β-thalassemia. Am J Hematol. 2021.

Brown DW, Cato LD, Zhao Y, Nandakumar SK, Bao EL, Gardner EJ, Hubbard AK, DePaulis A, Rehling T, Song L, et al. Shared and distinct genetic etiologies for different types of clonal hematopoiesis. Nat Commun. 2023;14(1):5536.

Wen J, Lagler TM, Sun Q, Yang Y, Chen J, Harigaya Y, Sankaran VG, Hu M, Reiner AP, Raffield LM, et al. Super interactive promoters provide insight into cell type-specific regulatory networks in blood lineage cell types. PLoS Genet. 2022;18(1):e1009984.

Ulirsch JC, Nandakumar SK, Wang L, Giani FC, Zhang X, Rogov P, Melnikov A, McDonel P, Do R, Mikkelsen TS, et al. Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits. Cell. 2016;165(6):1530-1545.

Ludwig LS, Lareau CA, Bao EL, Nandakumar SK, Muus C, Ulirsch JC, Chowdhary K, Buenrostro JD, Mohandas N, An X, et al. Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis. Cell Rep. 2019;27(11):3228-3240.e7.

L Liggett A, Sankaran VG. Unraveling Hematopoiesis through the Lens of Genomics. Cell. 2020;182(6):1384-1400.

Ditadi A, Sankaran VG. Vade-MECOM: How to peel back the layers of hematopoiesis. Cell Stem Cell. 2022;29(11):1512-1514.