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201 results

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Page 1
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Okur V, Oja KT, O'Leary M, O'Heir E, Morel C, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gazda HT, Ganesh VS, Ganapathy M, Gallacher L, Fu J, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bonnemann C, Beggs AH, Baxter SM, Agrawal PB, Talkowski M, Austin-Tse C, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: sankaran vg. medRxiv [Preprint]. 2023 Aug 13:2023.08.08.23293829. doi: 10.1101/2023.08.08.23293829. medRxiv. 2023. PMID: 38328047 Free PMC article. Preprint.
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett D, Barnes K, Bis JC, Blackwell T, Becker LC, Boerwinkle E, Bowler RP, Budoff MJ, Carson AP, Chen J, Cho MH, Coresh J, Cox N, de Vries PS, DeMeo DL, Fardo DW, Fornage M, Guo X, Hall ME, Heard-Costa N, Hidalgo B, Irvin MR, Johnson AD, Kenny EE, Levy D, Li Y, Lima JA, Liu Y, Loos RJF, Machiela MJ, Mathias RA, Mitchell BD, Murabito J, Mychaleckyj JC, North K, Orchard P, Parker SC, Pershad Y, Peyser PA, Pratte KA, Psaty BM, Raffield LM, Redline S, Rich SS, Rotter JI, Shah SJ, Smith JA, Smith AP, Smith A, Taub M, Tiwari HK, Tracy R, Tuftin B, Bick AG, Sankaran VG, Reiner AP, Scheet P, Auer PL. Jakubek YA, et al. Among authors: sankaran vg. medRxiv [Preprint]. 2024 Apr 19:2024.04.16.24305851. doi: 10.1101/2024.04.16.24305851. medRxiv. 2024. PMID: 38699360 Free PMC article. Preprint.
A torpor-like state (TLS) in mice slows blood epigenetic aging and prolongs healthspan.
Jayne L, Lavin-Peter A, Roessler J, Tyshkovskiy A, Antoszewski M, Ren E, Markovski A, Sun S, Yao H, Sankaran VG, Gladyshev VN, Brooke RT, Horvath S, Griffith EC, Hrvatin S. Jayne L, et al. Among authors: sankaran vg. bioRxiv [Preprint]. 2024 Mar 25:2024.03.20.585828. doi: 10.1101/2024.03.20.585828. bioRxiv. 2024. PMID: 38585858 Free PMC article. Preprint.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: sankaran vg. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. Am J Hum Genet. 2024. PMID: 38565148
A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children.
de Smith AJ, Wahlster L, Jeon S, Kachuri L, Black S, Langie J, Cato LD, Nakatsuka N, Chan TF, Xia G, Mazumder S, Yang W, Gazal S, Eng C, Hu D, Burchard EG, Ziv E, Metayer C, Mancuso N, Yang JJ, Ma X, Wiemels JL, Yu F, Chiang CWK, Sankaran VG. de Smith AJ, et al. Among authors: sankaran vg. Cell Genom. 2024 Apr 10;4(4):100526. doi: 10.1016/j.xgen.2024.100526. Epub 2024 Mar 26. Cell Genom. 2024. PMID: 38537633 Free PMC article.
A guideline on the molecular ecosystem regulating ferroptosis.
Dai E, Chen X, Linkermann A, Jiang X, Kang R, Kagan VE, Bayir H, Yang WS, Garcia-Saez AJ, Ioannou MS, Janowitz T, Ran Q, Gu W, Gan B, Krysko DV, Zhu X, Wang J, Krautwald S, Toyokuni S, Xie Y, Greten FR, Yi Q, Schick J, Liu J, Gabrilovich DI, Liu J, Zeh HJ, Zhang DD, Yang M, Iovanna J, Kopf M, Adolph TE, Chi JT, Li C, Ichijo H, Karin M, Sankaran VG, Zou W, Galluzzi L, Bush AI, Li B, Melino G, Baehrecke EH, Lotze MT, Klionsky DJ, Stockwell BR, Kroemer G, Tang D. Dai E, et al. Among authors: sankaran vg. Nat Cell Biol. 2024 Feb 29. doi: 10.1038/s41556-024-01360-8. Online ahead of print. Nat Cell Biol. 2024. PMID: 38424270 Review.
Deciphering cell states and genealogies of human haematopoiesis.
Weng C, Yu F, Yang D, Poeschla M, Liggett LA, Jones MG, Qiu X, Wahlster L, Caulier A, Hussmann JA, Schnell A, Yost KE, Koblan LW, Martin-Rufino JD, Min J, Hammond A, Ssozi D, Bueno R, Mallidi H, Kreso A, Escabi J, Rideout WM 3rd, Jacks T, Hormoz S, van Galen P, Weissman JS, Sankaran VG. Weng C, et al. Among authors: sankaran vg. Nature. 2024 Mar;627(8003):389-398. doi: 10.1038/s41586-024-07066-z. Epub 2024 Jan 22. Nature. 2024. PMID: 38253266 Free PMC article.
Inherited blood cancer predisposition through altered transcription elongation.
Zhao J, Cato LD, Arora UP, Bao EL, Bryant SC, Williams N, Jia Y, Goldman SR, Nangalia J, Erb MA, Vos SM, Armstrong SA, Sankaran VG. Zhao J, et al. Among authors: sankaran vg. Cell. 2024 Feb 1;187(3):642-658.e19. doi: 10.1016/j.cell.2023.12.016. Epub 2024 Jan 12. Cell. 2024. PMID: 38218188 Free article.
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argili E, Le C, Sherr EH, Gleeson J, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan T, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: sankaran vg. medRxiv [Preprint]. 2023 Oct 5:2023.10.05.23296595. doi: 10.1101/2023.10.05.23296595. medRxiv. 2023. PMID: 37873196 Free PMC article. Updated. Preprint.
201 results