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Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5.
Hatzikotoulas K, Roposch A; DDH Case Control Consortium; Shah KM, Clark MJ, Bratherton S, Limbani V, Steinberg J, Zengini E, Warsame K, Ratnayake M, Tselepi M, Schwartzentruber J, Loughlin J, Eastwood DM, Zeggini E, Wilkinson JM. Hatzikotoulas K, et al. Among authors: schwartzentruber j. Commun Biol. 2018 May 31;1:56. doi: 10.1038/s42003-018-0052-4. eCollection 2018. Commun Biol. 2018. PMID: 30273415 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.
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.
Southam L, Gilly A, Süveges D, Farmaki AE, Schwartzentruber J, Tachmazidou I, Matchan A, Rayner NW, Tsafantakis E, Karaleftheri M, Xue Y, Dedoussis G, Zeggini E. Southam L, et al. Among authors: schwartzentruber j. Nat Commun. 2017 May 26;8:15606. doi: 10.1038/ncomms15606. Nat Commun. 2017. PMID: 28548082 Free PMC article.
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
Tachmazidou I, Süveges D, Min JL, Ritchie GRS, Steinberg J, Walter K, Iotchkova V, Schwartzentruber J, Huang J, Memari Y, McCarthy S, Crawford AA, Bombieri C, Cocca M, Farmaki AE, Gaunt TR, Jousilahti P, Kooijman MN, Lehne B, Malerba G, Männistö S, Matchan A, Medina-Gomez C, Metrustry SJ, Nag A, Ntalla I, Paternoster L, Rayner NW, Sala C, Scott WR, Shihab HA, Southam L, St Pourcain B, Traglia M, Trajanoska K, Zaza G, Zhang W, Artigas MS, Bansal N, Benn M, Chen Z, Danecek P, Lin WY, Locke A, Luan J, Manning AK, Mulas A, Sidore C, Tybjaerg-Hansen A, Varbo A, Zoledziewska M, Finan C, Hatzikotoulas K, Hendricks AE, Kemp JP, Moayyeri A, Panoutsopoulou K, Szpak M, Wilson SG, Boehnke M, Cucca F, Di Angelantonio E, Langenberg C, Lindgren C, McCarthy MI, Morris AP, Nordestgaard BG, Scott RA, Tobin MD, Wareham NJ; SpiroMeta Consortium; GoT2D Consortium; Burton P, Chambers JC, Smith GD, Dedoussis G, Felix JF, Franco OH, Gambaro G, Gasparini P, Hammond CJ, Hofman A, Jaddoe VWV, Kleber M, Kooner JS, Perola M, Relton C, Ring SM, Rivadeneira F, Salomaa V, Spector TD, Stegle O, Toniolo D, Uitterlinden AG; arcOGEN Consortium; Understanding Society Scientific Group; UK10K Consortium; Barroso… See abstract for full author list ➔ Tachmazidou I, et al. Among authors: schwartzentruber j. Am J Hum Genet. 2017 Jun 1;100(6):865-884. doi: 10.1016/j.ajhg.2017.04.014. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552196 Free PMC article.
Very low-depth whole-genome sequencing in complex trait association studies.
Gilly A, Southam L, Suveges D, Kuchenbaecker K, Moore R, Melloni GEM, Hatzikotoulas K, Farmaki AE, Ritchie G, Schwartzentruber J, Danecek P, Kilian B, Pollard MO, Ge X, Tsafantakis E, Dedoussis G, Zeggini E. Gilly A, et al. Among authors: schwartzentruber j. Bioinformatics. 2019 Aug 1;35(15):2555-2561. doi: 10.1093/bioinformatics/bty1032. Bioinformatics. 2019. PMID: 30576415 Free PMC article.
What can exome sequencing do for you?
Majewski J, Schwartzentruber J, Lalonde E, Montpetit A, Jabado N. Majewski J, et al. Among authors: schwartzentruber j. J Med Genet. 2011 Sep;48(9):580-9. doi: 10.1136/jmedgenet-2011-100223. Epub 2011 Jul 5. J Med Genet. 2011. PMID: 21730106 Review.
A proteome-wide genetic investigation identifies several SARS-CoV-2-exploited host targets of clinical relevance.
Anisul M, Shilts J, Schwartzentruber J, Hayhurst J, Buniello A, Shaikho Elhaj Mohammed E, Zheng J, Holmes M, Ochoa D, Carmona M, Maranville J, Gaunt TR, Emilsson V, Gudnason V, McDonagh EM, Wright GJ, Ghoussaini M, Dunham I. Anisul M, et al. Among authors: schwartzentruber j. Elife. 2021 Aug 17;10:e69719. doi: 10.7554/eLife.69719. Elife. 2021. PMID: 34402426 Free PMC article.
114 results