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Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S, Najmi LA, Bennett AJ, Aukrust I, Rundle JK, Colclough K, Molnes J, Kaci A, Nawaz S, van der Lugt T, Hassanali N, Mahajan A, Molven A, Ellard S, McCarthy MI, Bjørkhaug L, Njølstad PR, Gloyn AL. Althari S, et al. Among authors: colclough k. Am J Hum Genet. 2020 Oct 1;107(4):670-682. doi: 10.1016/j.ajhg.2020.08.016. Epub 2020 Sep 9. Am J Hum Genet. 2020. PMID: 32910913 Free PMC article.
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S. Rankin J, et al. Among authors: colclough k. Am J Med Genet A. 2008 Jun 15;146A(12):1530-42. doi: 10.1002/ajmg.a.32331. Am J Med Genet A. 2008. PMID: 18478590
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.
Gasperíková D, Tribble ND, Staník J, Hucková M, Misovicová N, van de Bunt M, Valentínová L, Barrow BA, Barák L, Dobránsky R, Bereczková E, Michálek J, Wicks K, Colclough K, Knight JC, Ellard S, Klimes I, Gloyn AL. Gasperíková D, et al. Among authors: colclough k. Diabetes. 2009 Aug;58(8):1929-35. doi: 10.2337/db09-0070. Epub 2009 May 1. Diabetes. 2009. PMID: 19411616 Free PMC article.
93 results