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Page 1
Molecular and functional variation in iPSC-derived sensory neurons.
Schwartzentruber J, Foskolou S, Kilpinen H, Rodrigues J, Alasoo K, Knights AJ, Patel M, Goncalves A, Ferreira R, Benn CL, Wilbrey A, Bictash M, Impey E, Cao L, Lainez S, Loucif AJ, Whiting PJ; HIPSCI Consortium; Gutteridge A, Gaffney DJ. Schwartzentruber J, et al. Among authors: gaffney dj. Nat Genet. 2018 Jan;50(1):54-61. doi: 10.1038/s41588-017-0005-8. Epub 2017 Dec 11. Nat Genet. 2018. PMID: 29229984 Free PMC article.
DNase I sensitivity QTLs are a major determinant of human expression variation.
Degner JF, Pai AA, Pique-Regi R, Veyrieras JB, Gaffney DJ, Pickrell JK, De Leon S, Michelini K, Lewellen N, Crawford GE, Stephens M, Gilad Y, Pritchard JK. Degner JF, et al. Among authors: gaffney dj. Nature. 2012 Feb 5;482(7385):390-4. doi: 10.1038/nature10808. Nature. 2012. PMID: 22307276 Free PMC article.
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
Liu JZ, Almarri MA, Gaffney DJ, Mells GF, Jostins L, Cordell HJ, Ducker SJ, Day DB, Heneghan MA, Neuberger JM, Donaldson PT, Bathgate AJ, Burroughs A, Davies MH, Jones DE, Alexander GJ, Barrett JC, Sandford RN, Anderson CA; UK Primary Biliary Cirrhosis (PBC) Consortium; Wellcome Trust Case Control Consortium 3. Liu JZ, et al. Among authors: gaffney dj. Nat Genet. 2012 Oct;44(10):1137-41. doi: 10.1038/ng.2395. Epub 2012 Sep 9. Nat Genet. 2012. PMID: 22961000 Free PMC article.
Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.
Iovino M, Agathou S, González-Rueda A, Del Castillo Velasco-Herrera M, Borroni B, Alberici A, Lynch T, O'Dowd S, Geti I, Gaffney D, Vallier L, Paulsen O, Káradóttir RT, Spillantini MG. Iovino M, et al. Brain. 2015 Nov;138(Pt 11):3345-59. doi: 10.1093/brain/awv222. Epub 2015 Jul 27. Brain. 2015. PMID: 26220942 Free PMC article.
Fine-mapping cellular QTLs with RASQUAL and ATAC-seq.
Kumasaka N, Knights AJ, Gaffney DJ. Kumasaka N, et al. Among authors: gaffney dj. Nat Genet. 2016 Feb;48(2):206-13. doi: 10.1038/ng.3467. Epub 2015 Dec 14. Nat Genet. 2016. PMID: 26656845 Free PMC article.
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.
Ji SG, Juran BD, Mucha S, Folseraas T, Jostins L, Melum E, Kumasaka N, Atkinson EJ, Schlicht EM, Liu JZ, Shah T, Gutierrez-Achury J, Boberg KM, Bergquist A, Vermeire S, Eksteen B, Durie PR, Farkkila M, Müller T, Schramm C, Sterneck M, Weismüller TJ, Gotthardt DN, Ellinghaus D, Braun F, Teufel A, Laudes M, Lieb W, Jacobs G, Beuers U, Weersma RK, Wijmenga C, Marschall HU, Milkiewicz P, Pares A, Kontula K, Chazouillères O, Invernizzi P, Goode E, Spiess K, Moore C, Sambrook J, Ouwehand WH, Roberts DJ, Danesh J, Floreani A, Gulamhusein AF, Eaton JE, Schreiber S, Coltescu C, Bowlus CL, Luketic VA, Odin JA, Chopra KB, Kowdley KV, Chalasani N, Manns MP, Srivastava B, Mells G, Sandford RN, Alexander G, Gaffney DJ, Chapman RW, Hirschfield GM, de Andrade M; UK-PSC Consortium; International IBD Genetics Consortium; International PSC Study Group; Rushbrook SM, Franke A, Karlsen TH, Lazaridis KN, Anderson CA. Ji SG, et al. Among authors: gaffney dj. Nat Genet. 2017 Feb;49(2):269-273. doi: 10.1038/ng.3745. Epub 2016 Dec 19. Nat Genet. 2017. PMID: 27992413 Free PMC article.
Common genetic variation drives molecular heterogeneity in human iPSCs.
Kilpinen H, Goncalves A, Leha A, Afzal V, Alasoo K, Ashford S, Bala S, Bensaddek D, Casale FP, Culley OJ, Danecek P, Faulconbridge A, Harrison PW, Kathuria A, McCarthy D, McCarthy SA, Meleckyte R, Memari Y, Moens N, Soares F, Mann A, Streeter I, Agu CA, Alderton A, Nelson R, Harper S, Patel M, White A, Patel SR, Clarke L, Halai R, Kirton CM, Kolb-Kokocinski A, Beales P, Birney E, Danovi D, Lamond AI, Ouwehand WH, Vallier L, Watt FM, Durbin R, Stegle O, Gaffney DJ. Kilpinen H, et al. Among authors: gaffney dj. Nature. 2017 Jun 15;546(7658):370-375. doi: 10.1038/nature22403. Epub 2017 May 10. Nature. 2017. PMID: 28489815 Free PMC article.
64 results