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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Köhler S, Jäger M, Grünhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN. Krawitz PM, et al. Among authors: de condor bj, cole de. Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29. Nat Genet. 2010. PMID: 20802478
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, Robinson PN, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, Krawitz PM. Knaus A, et al. Among authors: cole de. Hum Mutat. 2016 Aug;37(8):737-44. doi: 10.1002/humu.23006. Epub 2016 May 19. Hum Mutat. 2016. PMID: 27120253 Free PMC article.
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
Thompson MD, Knaus AA, Barshop BA, Caliebe A, Muhle H, Nguyen TTM, Baratang NV, Kinoshita T, Percy ME, Campeau PM, Murakami Y, Cole DE, Krawitz PM, Mabry CC. Thompson MD, et al. Among authors: cole de. Eur J Med Genet. 2020 Apr;63(4):103822. doi: 10.1016/j.ejmg.2019.103822. Epub 2019 Dec 2. Eur J Med Genet. 2020. PMID: 31805394
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD, Percy ME, Cole DEC, Bichet DG, Hauser AS, Gorvin CM. Thompson MD, et al. Among authors: cole dec. Crit Rev Clin Lab Sci. 2024 Aug;61(5):317-346. doi: 10.1080/10408363.2023.2286606. Epub 2024 Mar 18. Crit Rev Clin Lab Sci. 2024. PMID: 38497103 Review.
Genetic variants in the vitamin D pathway and their association with vitamin D metabolite levels: Detailed studies of an inner-city pediatric population suggest a modest but significant effect in early childhood.
Fu L, Wong BYL, Li Z, Horst RL, Williams R, Lee B, Miller J, Carpenter TO, Cole DEC. Fu L, et al. Among authors: cole dec. J Steroid Biochem Mol Biol. 2023 Oct;233:106369. doi: 10.1016/j.jsbmb.2023.106369. Epub 2023 Jul 23. J Steroid Biochem Mol Biol. 2023. PMID: 37490983
337 results