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Page 1
Transcriptome and genome sequencing uncovers functional variation in humans.
Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PA, Monlong J, Rivas MA, Gonzàlez-Porta M, Kurbatova N, Griebel T, Ferreira PG, Barann M, Wieland T, Greger L, van Iterson M, Almlöf J, Ribeca P, Pulyakhina I, Esser D, Giger T, Tikhonov A, Sultan M, Bertier G, MacArthur DG, Lek M, Lizano E, Buermans HP, Padioleau I, Schwarzmayr T, Karlberg O, Ongen H, Kilpinen H, Beltran S, Gut M, Kahlem K, Amstislavskiy V, Stegle O, Pirinen M, Montgomery SB, Donnelly P, McCarthy MI, Flicek P, Strom TM; Geuvadis Consortium; Lehrach H, Schreiber S, Sudbrak R, Carracedo A, Antonarakis SE, Häsler R, Syvänen AC, van Ommen GJ, Brazma A, Meitinger T, Rosenstiel P, Guigó R, Gut IG, Estivill X, Dermitzakis ET. Lappalainen T, et al. Nature. 2013 Sep 26;501(7468):506-11. doi: 10.1038/nature12531. Epub 2013 Sep 15. Nature. 2013. PMID: 24037378 Free PMC article.
Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants.
Allum F, Shao X, Guénard F, Simon MM, Busche S, Caron M, Lambourne J, Lessard J, Tandre K, Hedman ÅK, Kwan T, Ge B; Multiple Tissue Human Expression Resource Consortium; Rönnblom L, McCarthy MI, Deloukas P, Richmond T, Burgess D, Spector TD, Tchernof A, Marceau S, Lathrop M, Vohl MC, Pastinen T, Grundberg E. Allum F, et al. Nat Commun. 2015 May 29;6:7211. doi: 10.1038/ncomms8211. Nat Commun. 2015. PMID: 26021296 Free PMC article.
Evaluation of PAX3 genetic variants and nevus number.
Ogbah Z, Badenas C, Harland M, Puig-Butille JA, Elliot F, Bonifaci N, Guino E, Randerson-Moor J, Chan M, Iles MM, Glass D, Brown AA, Carrera C, Kolm I, Bataille V, Spector TD, Malvehy J, Newton-Bishop J, Pujana MA, Bishop T, Puig S. Ogbah Z, et al. Pigment Cell Melanoma Res. 2013 Sep;26(5):666-76. doi: 10.1111/pcmr.12130. Epub 2013 Jul 4. Pigment Cell Melanoma Res. 2013. PMID: 23751107
Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes.
Small KS, Hedman AK, Grundberg E, Nica AC, Thorleifsson G, Kong A, Thorsteindottir U, Shin SY, Richards HB; GIANT Consortium; MAGIC Investigators; DIAGRAM Consortium; Soranzo N, Ahmadi KR, Lindgren CM, Stefansson K, Dermitzakis ET, Deloukas P, Spector TD, McCarthy MI; MuTHER Consortium. Small KS, et al. Nat Genet. 2011 Jun;43(6):561-4. doi: 10.1038/ng.833. Epub 2011 May 15. Nat Genet. 2011. PMID: 21572415 Free PMC article.
Gene expression changes with age in skin, adipose tissue, blood and brain.
Glass D, Viñuela A, Davies MN, Ramasamy A, Parts L, Knowles D, Brown AA, Hedman AK, Small KS, Buil A, Grundberg E, Nica AC, Di Meglio P, Nestle FO, Ryten M; UK Brain Expression consortium; MuTHER consortium; Durbin R, McCarthy MI, Deloukas P, Dermitzakis ET, Weale ME, Bataille V, Spector TD. Glass D, et al. Genome Biol. 2013 Jul 26;14(7):R75. doi: 10.1186/gb-2013-14-7-r75. Genome Biol. 2013. PMID: 23889843 Free PMC article.