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Page 1
Structural variation across 138,134 samples in the TOPMed consortium.
Jun G, English AC, Metcalf GA, Yang J, Chaisson MJ, Pankratz N, Menon VK, Salerno WJ, Krasheninina O, Smith AV, Lane JA, Blackwell T, Kang HM, Salvi S, Meng Q, Shen H, Pasham D, Bhamidipati S, Kottapalli K, Arnett DK, Ashley-Koch A, Auer PL, Beutel KM, Bis JC, Blangero J, Bowden DW, Brody JA, Cade BE, Chen YI, Cho MH, Curran JE, Fornage M, Freedman BI, Fingerlin T, Gelb BD, Hou L, Hung YJ, Kane JP, Kaplan R, Kim W, Loos RJF, Marcus GM, Mathias RA, McGarvey ST, Montgomery C, Naseri T, Nouraie SM, Preuss MH, Palmer ND, Peyser PA, Raffield LM, Ratan A, Redline S, Reupena S, Rotter JI, Rich SS, Rienstra M, Ruczinski I, Sankaran VG, Schwartz DA, Seidman CE, Seidman JG, Silverman EK, Smith JA, Stilp A, Taylor KD, Telen MJ, Weiss ST, Williams LK, Wu B, Yanek LR, Zhang Y, Lasky-Su J, Gingras MC, Dutcher SK, Eichler EE, Gabriel S, Germer S, Kim R, Viaud-Martinez KA, Nickerson DA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Luo J, Reiner A, Gibbs RA, Boerwinkle E, Abecasis G, Sedlazeck FJ. Jun G, et al. Among authors: sankaran vg. Res Sq [Preprint]. 2023 Feb 3:rs.3.rs-2515453. doi: 10.21203/rs.3.rs-2515453/v1. Res Sq. 2023. PMID: 36778386 Free PMC article. Preprint.
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. Polfus LM, et al. Among authors: sankaran vg. Am J Hum Genet. 2016 Aug 4;99(2):481-8. doi: 10.1016/j.ajhg.2016.06.016. Am J Hum Genet. 2016. PMID: 27486782 Free PMC article.
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. Raffield LM, et al. Among authors: sankaran vg. PLoS Genet. 2018 Mar 28;14(3):e1007293. doi: 10.1371/journal.pgen.1007293. eCollection 2018 Mar. PLoS Genet. 2018. PMID: 29590102 Free PMC article.
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. Musunuru K, et al. Among authors: sankaran vg. Circ Genom Precis Med. 2018 Apr;11(4):e002178. doi: 10.1161/CIRCGEN.118.002178. Circ Genom Precis Med. 2018. PMID: 29654098 Free PMC article. Review.
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P; NHLBI TOPMed Lipids Working Group. Zekavat SM, et al. Nat Commun. 2018 Jul 4;9(1):2606. doi: 10.1038/s41467-018-04668-w. Nat Commun. 2018. PMID: 29973585 Free PMC article.
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.
Natarajan P, Peloso GM, Zekavat SM, Montasser M, Ganna A, Chaffin M, Khera AV, Zhou W, Bloom JM, Engreitz JM, Ernst J, O'Connell JR, Ruotsalainen SE, Alver M, Manichaikul A, Johnson WC, Perry JA, Poterba T, Seed C, Surakka IL, Esko T, Ripatti S, Salomaa V, Correa A, Vasan RS, Kellis M, Neale BM, Lander ES, Abecasis G, Mitchell B, Rich SS, Wilson JG, Cupples LA, Rotter JI, Willer CJ, Kathiresan S; NHLBI TOPMed Lipids Working Group. Natarajan P, et al. Nat Commun. 2018 Aug 23;9(1):3391. doi: 10.1038/s41467-018-05747-8. Nat Commun. 2018. PMID: 30140000 Free PMC article.
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P; NHLBI TOPMed Lipids Working Group. Zekavat SM, et al. Nat Commun. 2018 Aug 23;9(1):3493. doi: 10.1038/s41467-018-05975-y. Nat Commun. 2018. PMID: 30140049 Free PMC article.
Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma.
Kachroo P, Hecker J, Chawes BL, Ahluwalia TS, Cho MH, Qiao D, Kelly RS, Chu SH, Virkud YV, Huang M, Barnes KC, Burchard EG, Eng C, Hu D, Celedón JC, Daya M, Levin AM, Gui H, Williams LK, Forno E, Mak ACY, Avila L, Soto-Quiros ME, Cloutier MM, Acosta-Pérez E, Canino G, Bønnelykke K, Bisgaard H, Raby BA, Lange C, Weiss ST, Lasky-Su JA; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium. Kachroo P, et al. Chest. 2019 Dec;156(6):1068-1079. doi: 10.1016/j.chest.2019.08.2202. Epub 2019 Sep 23. Chest. 2019. PMID: 31557467 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
Zekavat SM, Ruotsalainen S, Handsaker RE, Alver M, Bloom J, Poterba T, Seed C, Ernst J, Chaffin M, Engreitz J, Peloso GM, Manichaikul A, Yang C, Ryan KA, Fu M, Johnson WC, Tsai M, Budoff M, Vasan RS, Cupples LA, Rotter JI, Rich SS, Post W, Mitchell BD, Correa A, Metspalu A, Wilson JG, Salomaa V, Kellis M, Daly MJ, Neale BM, McCarroll S, Surakka I, Esko T, Ganna A, Ripatti S, Kathiresan S, Natarajan P; NHLBI TOPMed Lipids Working Group. Zekavat SM, et al. Nat Commun. 2020 Apr 1;11(1):1715. doi: 10.1038/s41467-020-15236-6. Nat Commun. 2020. PMID: 32238811 Free PMC article.
216 results