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Page 1
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Zhu N, Swietlik EM, Welch CL, Pauciulo MW, Hagen JJ, Zhou X, Guo Y, Karten J, Pandya D, Tilly T, Lutz KA, Martin JM, Treacy CM, Rosenzweig EB, Krishnan U, Coleman AW, Gonzaga-Jauregui C, Lawrie A, Trembath RC, Wilkins MR; Regeneron Genetics Center; PAH Biobank Enrolling Centers’ Investigators; NIHR BioResource for Translational Research - Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; Morrell NW, Shen Y, Gräf S, Nichols WC, Chung WK. Zhu N, et al. Among authors: tilly t. Genome Med. 2021 May 10;13(1):80. doi: 10.1186/s13073-021-00891-1. Genome Med. 2021. PMID: 33971972 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6. Nature. 2020. PMID: 32678341
Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.
Swietlik EM, Greene D, Zhu N, Megy K, Cogliano M, Rajaram S, Pandya D, Tilly T, Lutz KA, Welch CCL, Pauciulo MW, Southgate L, Martin JM, Treacy CM, Penkett CJ, Stephens JC, Bogaard HJ, Church C, Coghlan G, Coleman AW, Condliffe R, Eichstaedt CA, Eyries M, Gall H, Ghio S, Girerd B, Grünig E, Holden S, Howard L, Humbert M, Kiely DG, Kovacs G, Lordan J, Machado RD, Mackenzie Ross RV, McCabe C, Moledina S, Montani D, Olschewski H, Pepke-Zaba J, Price L, Rhodes CJ, Seeger W, Soubrier F, Suntharalingam J, Toshner MR, Vonk Noordegraaf A, Wharton J, Wild JM, Wort SJ, Lawrie A, Wilkins MR, Trembath RC, Shen Y, Chung WK, Swift AJ, Nichols WC, Morrell NW, Gräf S. Swietlik EM, et al. Among authors: tilly t. Circ Genom Precis Med. 2020 Dec 15;14(1):e003155. doi: 10.1161/CIRCGEN.120.003155. Online ahead of print. Circ Genom Precis Med. 2020. PMID: 33320693 Free PMC article.
Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Zhu N, Swietlik EM, Welch CL, Pauciulo MW, Hagen JJ, Zhou X, Guo Y, Karten J, Pandya D, Tilly T, Lutz KA, Martin JM, Treacy CM, Rosenzweig EB, Krishnan U, Coleman AW, Gonzaga-Jauregui C, Lawrie A, Trembath RC, Wilkins MR; Regeneron Genetics Center; PAH Biobank Enrolling Centers’ Investigators; NIHR BioResource for Translational Research - Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; Morrell NW, Shen Y, Gräf S, Nichols WC, Chung WK. Zhu N, et al. Among authors: tilly t. Genome Med. 2021 Jun 22;13(1):106. doi: 10.1186/s13073-021-00915-w. Genome Med. 2021. PMID: 34158098 Free PMC article. No abstract available.
Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood.
Kariotis S, Jammeh E, Swietlik EM, Pickworth JA, Rhodes CJ, Otero P, Wharton J, Iremonger J, Dunning MJ, Pandya D, Mascarenhas TS, Errington N, Thompson AAR, Romanoski CE, Rischard F, Garcia JGN, Yuan JX, An TS, Desai AA, Coghlan G, Lordan J, Corris PA, Howard LS, Condliffe R, Kiely DG, Church C, Pepke-Zaba J, Toshner M, Wort S, Gräf S, Morrell NW, Wilkins MR, Lawrie A, Wang D; UK National PAH Cohort Study Consortium. Kariotis S, et al. Nat Commun. 2021 Dec 7;12(1):7104. doi: 10.1038/s41467-021-27326-0. Nat Commun. 2021. PMID: 34876579 Free PMC article.
Autoimmunity Is a Significant Feature of Idiopathic Pulmonary Arterial Hypertension.
Jones RJ, De Bie EMDD, Groves E, Zalewska KI, Swietlik EM, Treacy CM, Martin JM, Polwarth G, Li W, Guo J, Baxendale HE, Coleman S, Savinykh N, Coghlan JG, Corris PA, Howard LS, Johnson MK, Church C, Kiely DG, Lawrie A, Lordan JL, Mackenzie Ross RV, Pepke Zaba J, Wilkins MR, Wort SJ, Fiorillo E, Orrù V, Cucca F, Rhodes CJ, Gräf S, Morrell NW, McKinney EF, Wallace C, Toshner M; UK National Cohort Study of Idiopathic and Heritable PAH Consortium. Jones RJ, et al. Am J Respir Crit Care Med. 2022 Jul 1;206(1):81-93. doi: 10.1164/rccm.202108-1919OC. Am J Respir Crit Care Med. 2022. PMID: 35316153 Free PMC article.
Author Correction: Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood.
Kariotis S, Jammeh E, Swietlik EM, Pickworth JA, Rhodes CJ, Otero P, Wharton J, Iremonger J, Dunning MJ, Pandya D, Mascarenhas TS, Errington N, Thompson AAR, Romanoski CE, Rischard F, Garcia JGN, Yuan JX, An TS, Desai AA, Coghlan G, Lordan J, Corris PA, Howard LS, Condliffe R, Kiely DG, Church C, Pepke-Zaba J, Toshner M, Wort S, Gräf S, Morrell NW, Wilkins MR, Lawrie A, Wang D; UK National PAH Cohort Study Consortium. Kariotis S, et al. Nat Commun. 2022 Nov 25;13(1):7276. doi: 10.1038/s41467-022-33381-y. Nat Commun. 2022. PMID: 36433938 Free PMC article. No abstract available.
Single-cell multi-omics analysis of the immune response in COVID-19.
Stephenson E, Reynolds G, Botting RA, Calero-Nieto FJ, Morgan MD, Tuong ZK, Bach K, Sungnak W, Worlock KB, Yoshida M, Kumasaka N, Kania K, Engelbert J, Olabi B, Spegarova JS, Wilson NK, Mende N, Jardine L, Gardner LCS, Goh I, Horsfall D, McGrath J, Webb S, Mather MW, Lindeboom RGH, Dann E, Huang N, Polanski K, Prigmore E, Gothe F, Scott J, Payne RP, Baker KF, Hanrath AT, Schim van der Loeff ICD, Barr AS, Sanchez-Gonzalez A, Bergamaschi L, Mescia F, Barnes JL, Kilich E, de Wilton A, Saigal A, Saleh A, Janes SM, Smith CM, Gopee N, Wilson C, Coupland P, Coxhead JM, Kiselev VY, van Dongen S, Bacardit J, King HW; Cambridge Institute of Therapeutic Immunology and Infectious Disease-National Institute of Health Research (CITIID-NIHR) COVID-19 BioResource Collaboration; Rostron AJ, Simpson AJ, Hambleton S, Laurenti E, Lyons PA, Meyer KB, Nikolić MZ, Duncan CJA, Smith KGC, Teichmann SA, Clatworthy MR, Marioni JC, Göttgens B, Haniffa M. Stephenson E, et al. Nat Med. 2021 May;27(5):904-916. doi: 10.1038/s41591-021-01329-2. Epub 2021 Apr 20. Nat Med. 2021. PMID: 33879890 Free PMC article.
38 results