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Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.
Johnson SR, Ellis JJ, Leo PJ, Anderson LK, Ganti U, Harris JE, Curran JA, McInerney-Leo AM, Paramalingam N, Song X, Conwell LS, Harris M, Jones TW, Brown MA, Davis EA, Duncan EL. Johnson SR, et al. Pediatr Diabetes. 2019 Feb;20(1):57-64. doi: 10.1111/pedi.12766. Epub 2018 Nov 14. Pediatr Diabetes. 2019. PMID: 30191644
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.
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. Diabetes Care. 2019 Jan;42(1):69-76. doi: 10.2337/dc18-0261. Epub 2018 Dec 6. Diabetes Care. 2019. PMID: 30523035
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N, Prasad R, Hughes CR, Maudhoo A, Crowne E, Cheetham TD, Brain CE, Suntharalingham JP, Striglioni N, Yuksel B, Gurbuz F, Gupta S, Lindsay R, Couch R, Spoudeas HA, Guran T, Johnson S, Fowler DJ, Conwell LS, McInerney-Leo AM, Drui D, Cariou B, Lopez-Siguero JP, Harris M, Duncan EL, Hindmarsh PC, Auchus RJ, Donaldson MD, Achermann JC, Metherell LA. Maharaj A, et al. J Endocr Soc. 2018 Oct 30;3(1):201-221. doi: 10.1210/js.2018-00130. eCollection 2019 Jan 1. J Endocr Soc. 2018. PMID: 30620006 Free PMC article.
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. Diabetes Care. 2019 May;42(5):e79-e80. doi: 10.2337/dci19-0010. Diabetes Care. 2019. PMID: 31010948 No abstract available.
827 results