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Page 1
Population-scale skeletal muscle single-nucleus multi-omic profiling reveals extensive context specific genetic regulation.
Varshney A, Manickam N, Orchard P, Tovar A, Zhang Z, Feng F, Erdos MR, Narisu N, Ventresca C, Nishino K, Rai V, Stringham HM, Jackson AU, Tamsen T, Gao C, Yang M, Koues OI, Welch JD, Burant CF, Williams LK, Jenkinson C, DeFronzo RA, Norton L, Saramies J, Lakka TA, Laakso M, Tuomilehto J, Mohlke KL, Kitzman JO, Koistinen HA, Liu J, Boehnke M, Collins FS, Scott LJ, Parker SCJ. Varshney A, et al. Among authors: kitzman jo. bioRxiv [Preprint]. 2023 Dec 15:2023.12.15.571696. doi: 10.1101/2023.12.15.571696. bioRxiv. 2023. PMID: 38168419 Free PMC article. Preprint.
Diversity of human copy number variation and multicopy genes.
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project; Eichler EE. Sudmant PH, et al. Among authors: kitzman jo. Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005. Science. 2010. PMID: 21030649 Free PMC article.
Noninvasive whole-genome sequencing of a human fetus.
Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC, Tabor HK, Bamshad MJ, Eichler EE, Shendure J. Kitzman JO, et al. Sci Transl Med. 2012 Jun 6;4(137):137ra76. doi: 10.1126/scitranslmed.3004323. Sci Transl Med. 2012. PMID: 22674554 Free PMC article.
Non-invasive fetal genome sequencing: opportunities and challenges.
Tabor HK, Murray JC, Gammill HS, Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Rubens CE, Santillan MK, Eichler EE, Cheng EY, Bamshad MJ, Shendure J. Tabor HK, et al. Among authors: kitzman jo. Am J Med Genet A. 2012 Oct;158A(10):2382-4. doi: 10.1002/ajmg.a.35545. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887792 Free PMC article. No abstract available.
Acquired copy number alterations in adult acute myeloid leukemia genomes.
Walter MJ, Payton JE, Ries RE, Shannon WD, Deshmukh H, Zhao Y, Baty J, Heath S, Westervelt P, Watson MA, Tomasson MH, Nagarajan R, O'Gara BP, Bloomfield CD, Mrózek K, Selzer RR, Richmond TA, Kitzman J, Geoghegan J, Eis PS, Maupin R, Fulton RS, McLellan M, Wilson RK, Mardis ER, Link DC, Graubert TA, DiPersio JF, Ley TJ. Walter MJ, et al. Proc Natl Acad Sci U S A. 2009 Aug 4;106(31):12950-5. doi: 10.1073/pnas.0903091106. Epub 2009 Jul 27. Proc Natl Acad Sci U S A. 2009. PMID: 19651600 Free PMC article.
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
Weinstock JS, Gopakumar J, Burugula BB, Uddin MM, Jahn N, Belk JA, Bouzid H, Daniel B, Miao Z, Ly N, Mack TM, Luna SE, Prothro KP, Mitchell SR, Laurie CA, Broome JG, Taylor KD, Guo X, Sinner MF, von Falkenhausen AS, Kääb S, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, Chami N, Kenny EE, Loos RJF, Fornage M, Hou L, Lloyd-Jones DM, Redline S, Cade BE, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Qiao D, Palmer ND, Freedman BI, Bowden DW, Cho MH, DeMeo DL, Vasan RS, Yanek LR, Becker LC, Kardia SLR, Peyser PA, He J, Rienstra M, Van der Harst P, Kaplan R, Heckbert SR, Smith NL, Wiggins KL, Arnett DK, Irvin MR, Tiwari H, Cutler MJ, Knight S, Muhlestein JB, Correa A, Raffield LM, Gao Y, de Andrade M, Rotter JI, Rich SS, Tracy RP, Konkle BA, Johnsen JM, Wheeler MM, Smith JG, Melander O, Nilsson PM, Custer BS, Duggirala R, Curran JE, Blangero J, McGarvey S, Williams LK, Xiao S, Yang M, Gu CC, Chen YI, Lee WJ, Marcus GM, Kane JP, Pullinger CR, Shoemaker MB, Darbar D, Roden DM, Albert C, Kooperberg C, Zhou Y, Manson JE, Desai P, Johnson AD, Mathias RA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Blackwell TW, Abecasis GR, Smith AV, Kang HM, Satpathy A… See abstract for full author list ➔ Weinstock JS, et al. Among authors: kitzman jo. Nature. 2023 Apr;616(7958):755-763. doi: 10.1038/s41586-023-05806-1. Epub 2023 Apr 12. Nature. 2023. PMID: 37046083 Free PMC article.
Haplotype-resolved genome sequencing of a Gujarati Indian individual.
Kitzman JO, Mackenzie AP, Adey A, Hiatt JB, Patwardhan RP, Sudmant PH, Ng SB, Alkan C, Qiu R, Eichler EE, Shendure J. Kitzman JO, et al. Nat Biotechnol. 2011 Jan;29(1):59-63. doi: 10.1038/nbt.1740. Epub 2010 Dec 19. Nat Biotechnol. 2011. PMID: 21170042 Free PMC article.
Repeat subtraction-mediated sequence capture from a complex genome.
Fu Y, Springer NM, Gerhardt DJ, Ying K, Yeh CT, Wu W, Swanson-Wagner R, D'Ascenzo M, Millard T, Freeberg L, Aoyama N, Kitzman J, Burgess D, Richmond T, Albert TJ, Barbazuk WB, Jeddeloh JA, Schnable PS. Fu Y, et al. Plant J. 2010 Jun 1;62(5):898-909. doi: 10.1111/j.1365-313X.2010.04196.x. Epub 2010 Mar 4. Plant J. 2010. PMID: 20230488 Free article.
Mutation discovery in the mouse using genetically guided array capture and resequencing.
D'Ascenzo M, Meacham C, Kitzman J, Middle C, Knight J, Winer R, Kukricar M, Richmond T, Albert TJ, Czechanski A, Donahue LR, Affourtit J, Jeddeloh JA, Reinholdt L. D'Ascenzo M, et al. Mamm Genome. 2009 Jul;20(7):424-36. doi: 10.1007/s00335-009-9200-y. Epub 2009 Jul 21. Mamm Genome. 2009. PMID: 19629596 Free PMC article.
67 results