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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. 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.
Publisher Correction: 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. Nat Genet. 2019 Jul;51(7):1190. doi: 10.1038/s41588-019-0445-4. Nat Genet. 2019. PMID: 31160811
A map of transcriptional heterogeneity and regulatory variation in human microglia.
Young AMH, Kumasaka N, Calvert F, Hammond TR, Knights A, Panousis N, Park JS, Schwartzentruber J, Liu J, Kundu K, Segel M, Murphy NA, McMurran CE, Bulstrode H, Correia J, Budohoski KP, Joannides A, Guilfoyle MR, Trivedi R, Kirollos R, Morris R, Garnett MR, Timofeev I, Jalloh I, Holland K, Mannion R, Mair R, Watts C, Price SJ, Kirkpatrick PJ, Santarius T, Mountjoy E, Ghoussaini M, Soranzo N, Bayraktar OA, Stevens B, Hutchinson PJ, Franklin RJM, Gaffney DJ. Young AMH, et al. Among authors: schwartzentruber j. Nat Genet. 2021 Jun;53(6):861-868. doi: 10.1038/s41588-021-00875-2. Epub 2021 Jun 3. Nat Genet. 2021. PMID: 34083789 Free PMC article.
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci.
Mountjoy E, Schmidt EM, Carmona M, Schwartzentruber J, Peat G, Miranda A, Fumis L, Hayhurst J, Buniello A, Karim MA, Wright D, Hercules A, Papa E, Fauman EB, Barrett JC, Todd JA, Ochoa D, Dunham I, Ghoussaini M. Mountjoy E, et al. Among authors: schwartzentruber j. Nat Genet. 2021 Nov;53(11):1527-1533. doi: 10.1038/s41588-021-00945-5. Epub 2021 Oct 28. Nat Genet. 2021. PMID: 34711957 Free PMC article.
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.
Tachmazidou I, Dedoussis G, Southam L, Farmaki AE, Ritchie GR, Xifara DK, Matchan A, Hatzikotoulas K, Rayner NW, Chen Y, Pollin TI, O'Connell JR, Yerges-Armstrong LM, Kiagiadaki C, Panoutsopoulou K, Schwartzentruber J, Moutsianas L; UK10K consortium; Tsafantakis E, Tyler-Smith C, McVean G, Xue Y, Zeggini E. Tachmazidou I, et al. Among authors: schwartzentruber j. Nat Commun. 2013;4:2872. doi: 10.1038/ncomms3872. Nat Commun. 2013. PMID: 24343240 Free PMC article.
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
Fontebasso AM, Papillon-Cavanagh S, Schwartzentruber J, Nikbakht H, Gerges N, Fiset PO, Bechet D, Faury D, De Jay N, Ramkissoon LA, Corcoran A, Jones DT, Sturm D, Johann P, Tomita T, Goldman S, Nagib M, Bendel A, Goumnerova L, Bowers DC, Leonard JR, Rubin JB, Alden T, Browd S, Geyer JR, Leary S, Jallo G, Cohen K, Gupta N, Prados MD, Carret AS, Ellezam B, Crevier L, Klekner A, Bognar L, Hauser P, Garami M, Myseros J, Dong Z, Siegel PM, Malkin H, Ligon AH, Albrecht S, Pfister SM, Ligon KL, Majewski J, Jabado N, Kieran MW. Fontebasso AM, et al. Among authors: schwartzentruber j. Nat Genet. 2014 May;46(5):462-6. doi: 10.1038/ng.2950. Epub 2014 Apr 6. Nat Genet. 2014. PMID: 24705250 Free PMC article.
114 results