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Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE. Schon K, et al. Among authors: bottolo l. Ann Neurol. 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394. Ann Neurol. 2019. PMID: 30549301 Free PMC article.
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
Zhang X, Walsh R, Whiffin N, Buchan R, Midwinter W, Wilk A, Govind R, Li N, Ahmad M, Mazzarotto F, Roberts A, Theotokis PI, Mazaika E, Allouba M, de Marvao A, Pua CJ, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Olivotto I, Gunnarsson GT, Jefferies JL, Semsarian C, Ingles J, O'Regan DP, Aguib Y, Yacoub MH, Cook SA, Barton PJR, Bottolo L, Ware JS. Zhang X, et al. Among authors: bottolo l. Genet Med. 2021 Jan;23(1):69-79. doi: 10.1038/s41436-020-00972-3. Epub 2020 Oct 13. Genet Med. 2021. PMID: 33046849 Free PMC article.
Leptin-Mediated Changes in the Human Metabolome.
Lawler K, Huang-Doran I, Sonoyama T, Collet TH, Keogh JM, Henning E, O'Rahilly S, Bottolo L, Farooqi IS. Lawler K, et al. Among authors: bottolo l. J Clin Endocrinol Metab. 2020 Aug 1;105(8):2541-52. doi: 10.1210/clinem/dgaa251. J Clin Endocrinol Metab. 2020. PMID: 32392278 Free PMC article. Clinical Trial.
Bayesian detection of expression quantitative trait loci hot spots.
Bottolo L, Petretto E, Blankenberg S, Cambien F, Cook SA, Tiret L, Richardson S. Bottolo L, et al. Genetics. 2011 Dec;189(4):1449-59. doi: 10.1534/genetics.111.131425. Epub 2011 Sep 16. Genetics. 2011. PMID: 21926303 Free PMC article.
Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function.
McDermott-Roe C, Ye J, Ahmed R, Sun XM, Serafín A, Ware J, Bottolo L, Muckett P, Cañas X, Zhang J, Rowe GC, Buchan R, Lu H, Braithwaite A, Mancini M, Hauton D, Martí R, García-Arumí E, Hubner N, Jacob H, Serikawa T, Zidek V, Papousek F, Kolar F, Cardona M, Ruiz-Meana M, García-Dorado D, Comella JX, Felkin LE, Barton PJ, Arany Z, Pravenec M, Petretto E, Sanchis D, Cook SA. McDermott-Roe C, et al. Among authors: bottolo l. Nature. 2011 Oct 5;478(7367):114-8. doi: 10.1038/nature10490. Nature. 2011. PMID: 21979051 Free PMC article.
WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling.
Chen H, Moreno-Moral A, Pesce F, Devapragash N, Mancini M, Heng EL, Rotival M, Srivastava PK, Harmston N, Shkura K, Rackham OJL, Yu WP, Sun XM, Tee NGZ, Tan ELS, Barton PJR, Felkin LE, Lara-Pezzi E, Angelini G, Beltrami C, Pravenec M, Schafer S, Bottolo L, Hubner N, Emanueli C, Cook SA, Petretto E. Chen H, et al. Among authors: bottolo l. Nat Commun. 2019 Aug 9;10(1):3616. doi: 10.1038/s41467-019-11551-9. Nat Commun. 2019. PMID: 31399586 Free PMC article.
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