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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study; Banka S. Faundes V, et al. Among authors: temple ik. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276005 Free PMC article.
Midline facial defects with ocular colobomata.
Temple IK, Brunner H, Jones B, Burn J, Baraitser M. Temple IK, et al. Am J Med Genet. 1990 Sep;37(1):23-7. doi: 10.1002/ajmg.1320370107. Am J Med Genet. 1990. PMID: 1700608
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: temple ik. J Med Genet. 2005 Apr;42(4):307-13. doi: 10.1136/jmg.2004.027755. J Med Genet. 2005. PMID: 15805156 Free PMC article.
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: temple ik. Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 Jun 7. Am J Hum Genet. 2005. PMID: 15942875 Free PMC article.
Discriminating power of localized three-dimensional facial morphology.
Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith AC, Stevens AF, Temple IK, Hennekam R, Tassabehji M. Hammond P, et al. Among authors: temple ik. Am J Hum Genet. 2005 Dec;77(6):999-1010. doi: 10.1086/498396. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380911 Free PMC article.
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.
Mackay DJ, Boonen SE, Clayton-Smith J, Goodship J, Hahnemann JM, Kant SG, Njølstad PR, Robin NH, Robinson DO, Siebert R, Shield JP, White HE, Temple IK. Mackay DJ, et al. Among authors: temple ik. Hum Genet. 2006 Sep;120(2):262-9. doi: 10.1007/s00439-006-0205-2. Epub 2006 Jul 1. Hum Genet. 2006. PMID: 16816970
223 results