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Response to Comment on Johnson et al. Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life. Diabetes Care 2019;42:69-76.
Johnson SR, Carter HE, Leo P, Hollingworth SA, Davis EA, Jones TW, Conwell LS, Harris M, Brown MA, Graves N, Duncan EL. Johnson SR, et al. Among authors: leo p. Diabetes Care. 2019 May;42(5):e79-e80. doi: 10.2337/dci19-0010. Diabetes Care. 2019. PMID: 31010948 No abstract available.
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
International Genetics of Ankylosing Spondylitis Consortium (IGAS); Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Kenna TJ, Haroon N, Ferreira MA, Yang J, Mulero J, Fernandez-Sueiro JL, Gonzalez-Gay MA, Lopez-Larrea C, Deloukas P, Donnelly P; Australo-Anglo-American Spondyloarthritis Consortium (TASC); Groupe Française d'Etude Génétique des Spondylarthrites (GFEGS); Nord-Trøndelag Health Study (HUNT); Spondyloarthritis Research Consortium of Canada (SPARCC); Wellcome Trust Case Control Consortium 2 (WTCCC2); Bowness P, Gafney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Xu H, Crusius JB, van der Horst-Bruinsma IE, Chou CT, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Videm V, Martin J, Breban M, Reveille JD, Evans DM, Kim TH, Wordsworth BP, Brown MA. International Genetics of Ankylosing Spondylitis Consortium (IGAS), et al. Among authors: leo p. Nat Genet. 2013 Jul;45(7):730-8. doi: 10.1038/ng.2667. Epub 2013 Jun 9. Nat Genet. 2013. PMID: 23749187 Free PMC article.
C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.
He J, Tang L, Benyamin B, Shah S, Hemani G, Liu R, Ye S, Liu X, Ma Y, Zhang H, Cremin K, Leo P, Wray NR, Visscher PM, Xu H, Brown MA, Bartlett PF, Mangelsdorf M, Fan D. He J, et al. Among authors: leo p. Neurobiol Aging. 2015 Sep;36(9):2660.e1-8. doi: 10.1016/j.neurobiolaging.2015.06.002. Epub 2015 Jun 9. Neurobiol Aging. 2015. PMID: 26142124
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP. Wade EM, et al. Among authors: leo p. Am J Hum Genet. 2016 Aug 4;99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024. Epub 2016 Jul 15. Am J Hum Genet. 2016. PMID: 27426733 Free PMC article.
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.
Zhou T, Souzeau E, Sharma S, Siggs OM, Goldberg I, Healey PR, Graham S, Hewitt AW, Mackey DA, Casson RJ, Landers J, Mills R, Ellis J, Leo P, Brown MA, MacGregor S, Burdon KP, Craig JE. Zhou T, et al. Among authors: leo p. Mol Genet Genomic Med. 2016 Oct 3;4(6):624-633. doi: 10.1002/mgg3.248. eCollection 2016 Nov. Mol Genet Genomic Med. 2016. PMID: 27896285 Free PMC article.
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.
Zhou T, Souzeau E, Sharma S, Landers J, Mills R, Goldberg I, Healey PR, Graham S, Hewitt AW, Mackey DA, Galanopoulos A, Casson RJ, Ruddle JB, Ellis J, Leo P, Brown MA, MacGregor S, Lynn DJ, Burdon KP, Craig JE. Zhou T, et al. Among authors: leo p. PLoS One. 2017 Mar 6;12(3):e0172427. doi: 10.1371/journal.pone.0172427. eCollection 2017. PLoS One. 2017. PMID: 28264060 Free PMC article.
Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma.
Zhou T, Souzeau E, Siggs OM, Landers J, Mills R, Goldberg I, Healey PR, Graham S, Hewitt AW, Mackey DA, Galanopoulos A, Casson RJ, Ruddle JB, Ellis J, Leo P, Brown MA, MacGregor S, Sharma S, Burdon KP, Craig JE. Zhou T, et al. Among authors: leo p. Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1537-1544. doi: 10.1167/iovs.16-21049. Invest Ophthalmol Vis Sci. 2017. PMID: 28282485 Free article.
433 results