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Page 1
Heritable defects in telomere and mitotic function selectively predispose to sarcomas.
Ballinger ML, Pattnaik S, Mundra PA, Zaheed M, Rath E, Priestley P, Baber J, Ray-Coquard I, Isambert N, Causeret S, van der Graaf WTA, Puri A, Duffaud F, Le Cesne A, Seddon B, Chandrasekar C, Schiffman JD, Brohl AS, James PA, Kurtz JE, Penel N, Myklebost O, Meza-Zepeda LA, Pickett H, Kansara M, Waddell N, Kondrashova O, Pearson JV, Barbour AP, Li S, Nguyen TL, Fatkin D, Graham RM, Giannoulatou E, Green MJ, Kaplan W, Ravishankar S, Copty J, Powell JE, Cuppen E, van Eijk K, Veldink J, Ahn JH, Kim JE, Randall RL, Tucker K, Judson I, Sarin R, Ludwig T, Genin E, Deleuze JF; French Exome Project Consortium; Haber M, Marshall G, Cairns MJ, Blay JY; International Sarcoma Kindred Study; Thomas DM, Tattersall M, Neuhaus S, Lewis C, Tucker K, Carey-Smith R, Wood D, Porceddu S, Dickinson I, Thorne H, James P, Ray-Coquard I, Blay JY, Cassier P, Le Cesne A, Duffaud F, Penel N, Isambert N, Kurtz JE, Puri A, Sarin R, Ahn JH, Kim JE, Ward I, Judson I, van der Graaf W, Seddon B, Chandrasekar C, Rickar R, Hennig I, Schiffman J, Randall RL, Silvestri A, Zaratzian A, Tayao M, Walwyn K, Niedermayr E, Mang D, Clark R, Thorpe T, MacDonald J, Riddell K, Mar J, Fennelly V, Wicht A, Zielony B, Gallig… See abstract for full author list ➔ Ballinger ML, et al. Among authors: je n, powell je. Science. 2023 Jan 20;379(6629):253-260. doi: 10.1126/science.abj4784. Epub 2023 Jan 19. Science. 2023. PMID: 36656928
A village in a dish model system for population-scale hiPSC studies.
Neavin DR, Steinmann AM, Farbehi N, Chiu HS, Daniszewski MS, Arora H, Bermudez Y, Moutinho C, Chan CL, Bax M, Tyebally M, Gnanasambandapillai V, Lam CE, Nguyen U, Hernández D, Lidgerwood GE, Graham RM, Hewitt AW, Pébay A, Palpant NJ, Powell JE. Neavin DR, et al. Among authors: powell je. Nat Commun. 2023 Jun 9;14(1):3240. doi: 10.1038/s41467-023-38704-1. Nat Commun. 2023. PMID: 37296104 Free PMC article.
Septic Shock: A Genomewide Association Study and Polygenic Risk Score Analysis.
D'Urso S, Rajbhandari D, Peach E, de Guzman E, Li Q, Medland SE, Gordon SD, Martin NG; CHARGE Inflammation Working Group; Ligthart S, Brown MA, Powell J, McArthur C, Rhodes A, Meyer J, Finfer S, Myburgh J, Blumenthal A, Cohen J, Venkatesh B, Cuellar-Partida G, Evans DM. D'Urso S, et al. Twin Res Hum Genet. 2020 Aug;23(4):204-213. doi: 10.1017/thg.2020.60. Epub 2020 Aug 5. Twin Res Hum Genet. 2020. PMID: 32755526
A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk.
Revez JA, Bain L, Chapman B, Powell JE, Jansen R, Duffy DL, Tung JY; AAGC Collaborators; Penninx BW, Visscher PM, De Geus EJ, Boomsma DI, Hinds DA, Martin NG, Montgomery GW, Ferreira MA. Revez JA, et al. Among authors: powell je. Genes Immun. 2013 Oct;14(7):441-6. doi: 10.1038/gene.2013.38. Epub 2013 Aug 15. Genes Immun. 2013. PMID: 23945879 Free PMC article.
Single-cell genomics meets human genetics.
Cuomo ASE, Nathan A, Raychaudhuri S, MacArthur DG, Powell JE. Cuomo ASE, et al. Among authors: powell je. Nat Rev Genet. 2023 Aug;24(8):535-549. doi: 10.1038/s41576-023-00599-5. Epub 2023 Apr 21. Nat Rev Genet. 2023. PMID: 37085594 Free PMC article. Review.
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.
Võsa U, Claringbould A, Westra HJ, Bonder MJ, Deelen P, Zeng B, Kirsten H, Saha A, Kreuzhuber R, Yazar S, Brugge H, Oelen R, de Vries DH, van der Wijst MGP, Kasela S, Pervjakova N, Alves I, Favé MJ, Agbessi M, Christiansen MW, Jansen R, Seppälä I, Tong L, Teumer A, Schramm K, Hemani G, Verlouw J, Yaghootkar H, Sönmez Flitman R, Brown A, Kukushkina V, Kalnapenkis A, Rüeger S, Porcu E, Kronberg J, Kettunen J, Lee B, Zhang F, Qi T, Hernandez JA, Arindrarto W, Beutner F; BIOS Consortium; i2QTL Consortium; Dmitrieva J, Elansary M, Fairfax BP, Georges M, Heijmans BT, Hewitt AW, Kähönen M, Kim Y, Knight JC, Kovacs P, Krohn K, Li S, Loeffler M, Marigorta UM, Mei H, Momozawa Y, Müller-Nurasyid M, Nauck M, Nivard MG, Penninx BWJH, Pritchard JK, Raitakari OT, Rotzschke O, Slagboom EP, Stehouwer CDA, Stumvoll M, Sullivan P, 't Hoen PAC, Thiery J, Tönjes A, van Dongen J, van Iterson M, Veldink JH, Völker U, Warmerdam R, Wijmenga C, Swertz M, Andiappan A, Montgomery GW, Ripatti S, Perola M, Kutalik Z, Dermitzakis E, Bergmann S, Frayling T, van Meurs J, Prokisch H, Ahsan H, Pierce BL, Lehtimäki T, Boomsma DI, Psaty BM, Gharib SA, Awadalla P, Milani L, Ouwehand WH, Downes K, Stegle O, Battle A, V… See abstract for full author list ➔ Võsa U, et al. Nat Genet. 2021 Sep;53(9):1300-1310. doi: 10.1038/s41588-021-00913-z. Epub 2021 Sep 2. Nat Genet. 2021. PMID: 34475573 Free PMC article.
Transitioning single-cell genomics into the clinic.
Lim J, Chin V, Fairfax K, Moutinho C, Suan D, Ji H, Powell JE. Lim J, et al. Among authors: powell je. Nat Rev Genet. 2023 Aug;24(8):573-584. doi: 10.1038/s41576-023-00613-w. Epub 2023 May 31. Nat Rev Genet. 2023. PMID: 37258725 Review.
The relationship between adrenocortical candidate gene expression and clinical response to hydrocortisone in patients with septic shock.
Cohen J, Blumenthal A, Cuellar-Partida G, Evans DM, Finfer S, Li Q, Ljungberg J, Myburgh J, Peach E, Powell J, Rajbhandari D, Rhodes A, Senabouth A, Venkatesh B. Cohen J, et al. Intensive Care Med. 2021 Sep;47(9):974-983. doi: 10.1007/s00134-021-06464-5. Epub 2021 Jun 29. Intensive Care Med. 2021. PMID: 34185116 Clinical Trial.
240 results