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Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ, Hurles ME, He W, Brauner R, Delaney A, Dunkel L, Grinspon RP, Hall JE, Hirschhorn JN, Howard SR, Latronico AC, Jorge AAL, McElreavey K, Mericq V, Merino PM, Palmert MR, Plummer L, Rey RA, Rezende RC, Seminara SB, Salnikov K, Banerjee I, Lam BYH, Perry JRB, Timpson NJ, Clayton P, Chan YM, Ong KK, O'Rahilly S. Duckett K, et al. Among authors: corbin lj. J Clin Endocrinol Metab. 2023 Nov 17;108(12):e1580-e1587. doi: 10.1210/clinem/dgad373. J Clin Endocrinol Metab. 2023. PMID: 37339320 Free PMC article.
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.
Corbin LJ, Tan VY, Hughes DA, Wade KH, Paul DS, Tansey KE, Butcher F, Dudbridge F, Howson JM, Jallow MW, John C, Kingston N, Lindgren CM, O'Donavan M, O'Rahilly S, Owen MJ, Palmer CNA, Pearson ER, Scott RA, van Heel DA, Whittaker J, Frayling T, Tobin MD, Wain LV, Smith GD, Evans DM, Karpe F, McCarthy MI, Danesh J, Franks PW, Timpson NJ. Corbin LJ, et al. Nat Commun. 2018 Feb 19;9(1):711. doi: 10.1038/s41467-018-03109-y. Nat Commun. 2018. PMID: 29459775 Free PMC article. Review.
Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.
Wade KH, Lam BYH, Melvin A, Pan W, Corbin LJ, Hughes DA, Rainbow K, Chen JH, Duckett K, Liu X, Mokrosiński J, Mörseburg A, Neaves S, Williamson A, Zhang C, Farooqi IS, Yeo GSH, Timpson NJ, O'Rahilly S. Wade KH, et al. Among authors: corbin lj. Nat Med. 2021 Jun;27(6):1088-1096. doi: 10.1038/s41591-021-01349-y. Epub 2021 May 27. Nat Med. 2021. PMID: 34045736 Free PMC article.
38 results