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Page 1
Epigenome-wide association study of mitochondrial genome copy number.
Wang P, Castellani CA, Yao J, Huan T, Bielak LF, Zhao W, Haessler J, Joehanes R, Sun X, Guo X, Longchamps RJ, Manson JE, Grove ML, Bressler J, Taylor KD, Lappalainen T, Kasela S, Van Den Berg DJ, Hou L, Reiner A, Liu Y, Boerwinkle E, Smith JA, Peyser PA, Fornage M, Rich SS, Rotter JI, Kooperberg C, Arking DE, Levy D, Liu C; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Wang P, et al. Among authors: lappalainen t. Hum Mol Genet. 2021 Dec 27;31(2):309-319. doi: 10.1093/hmg/ddab240. Hum Mol Genet. 2021. PMID: 34415308 Free PMC article.
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ. Joshi RS, et al. Among authors: lappalainen t. Am J Hum Genet. 2016 Sep 1;99(3):555-566. doi: 10.1016/j.ajhg.2016.06.032. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569549 Free PMC article.
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn IK, Karaca E, Punetha J, Poli C; Baylor-Hopkins Center for Mendelian Genomics; Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, Lappalainen T, Lupski JR, Carvalho CMB. Coban-Akdemir Z, et al. Among authors: lappalainen t. Am J Hum Genet. 2018 Aug 2;103(2):171-187. doi: 10.1016/j.ajhg.2018.06.009. Epub 2018 Jul 19. Am J Hum Genet. 2018. PMID: 30032986 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.
Mapping and characterization of structural variation in 17,795 human genomes.
Abel HJ, Larson DE, Regier AA, Chiang C, Das I, Kanchi KL, Layer RM, Neale BM, Salerno WJ, Reeves C, Buyske S; NHGRI Centers for Common Disease Genomics; Matise TC, Muzny DM, Zody MC, Lander ES, Dutcher SK, Stitziel NO, Hall IM. Abel HJ, et al. Nature. 2020 Jul;583(7814):83-89. doi: 10.1038/s41586-020-2371-0. Epub 2020 May 27. Nature. 2020. PMID: 32460305 Free PMC article.
Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.
Zhao X, Qiao D, Yang C, Kasela S, Kim W, Ma Y, Shrine N, Batini C, Sofer T, Taliun SAG, Sakornsakolpat P, Balte PP, Prokopenko D, Yu B, Lange LA, Dupuis J, Cade BE, Lee J, Gharib SA, Daya M, Laurie CA, Ruczinski I, Cupples LA, Loehr LR, Bartz TM, Morrison AC, Psaty BM, Vasan RS, Wilson JG, Taylor KD, Durda P, Johnson WC, Cornell E, Guo X, Liu Y, Tracy RP, Ardlie KG, Aguet F, VanDenBerg DJ, Papanicolaou GJ, Rotter JI, Barnes KC, Jain D, Nickerson DA, Muzny DM, Metcalf GA, Doddapaneni H, Dugan-Perez S, Gupta N, Gabriel S, Rich SS, O'Connor GT, Redline S, Reed RM, Laurie CC, Daviglus ML, Preudhomme LK, Burkart KM, Kaplan RC, Wain LV, Tobin MD, London SJ, Lappalainen T, Oelsner EC, Abecasis GR, Silverman EK, Barr RG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lung Working Group; Cho MH, Manichaikul A. Zhao X, et al. Among authors: lappalainen t. Nat Commun. 2020 Oct 14;11(1):5182. doi: 10.1038/s41467-020-18334-7. Nat Commun. 2020. PMID: 33057025 Free PMC article.
Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium.
Kasela S, Ortega VE, Martorella M, Garudadri S, Nguyen J, Ampleford E, Pasanen A, Nerella S, Buschur KL, Barjaktarevic IZ, Barr RG, Bleecker ER, Bowler RP, Comellas AP, Cooper CB, Couper DJ, Criner GJ, Curtis JL, Han MK, Hansel NN, Hoffman EA, Kaner RJ, Krishnan JA, Martinez FJ, McDonald MN, Meyers DA, Paine R 3rd, Peters SP, Castro M, Denlinger LC, Erzurum SC, Fahy JV, Israel E, Jarjour NN, Levy BD, Li X, Moore WC, Wenzel SE, Zein J; NHLBI SubPopulations and InteRmediate Outcome Measures In COPD Study (SPIROMICS); NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Langelier C, Woodruff PG, Lappalainen T, Christenson SA. Kasela S, et al. Among authors: lappalainen t. Genome Med. 2021 Apr 21;13(1):66. doi: 10.1186/s13073-021-00866-2. Genome Med. 2021. PMID: 33883027 Free PMC article.
Transcription factor regulation of eQTL activity across individuals and tissues.
Flynn ED, Tsu AL, Kasela S, Kim-Hellmuth S, Aguet F, Ardlie KG, Bussemaker HJ, Mohammadi P, Lappalainen T. Flynn ED, et al. Among authors: lappalainen t. PLoS Genet. 2022 Jan 31;18(1):e1009719. doi: 10.1371/journal.pgen.1009719. eCollection 2022 Jan. PLoS Genet. 2022. PMID: 35100260 Free PMC article.
Protein prediction for trait mapping in diverse populations.
Schubert R, Geoffroy E, Gregga I, Mulford AJ, Aguet F, Ardlie K, Gerszten R, Clish C, Van Den Berg D, Taylor KD, Durda P, Johnson WC, Cornell E, Guo X, Liu Y, Tracy R, Conomos M, Blackwell T, Papanicolaou G, Lappalainen T, Mikhaylova AV, Thornton TA, Cho MH, Gignoux CR, Lange L, Lange E, Rich SS, Rotter JI; NHLBI TOPMed Consortium; Manichaikul A, Im HK, Wheeler HE. Schubert R, et al. Among authors: lappalainen t. PLoS One. 2022 Feb 24;17(2):e0264341. doi: 10.1371/journal.pone.0264341. eCollection 2022. PLoS One. 2022. PMID: 35202437 Free PMC article.
142 results