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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: kerr b. 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.
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kääriäinen H, Cass D, Donnai D, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, Aftimos S, Zehnwirth H, Barrey C, Goossens M. Wilson M, et al. Among authors: kerr b. Am J Med Genet A. 2003 Jun 15;119A(3):257-65. doi: 10.1002/ajmg.a.20053. Am J Med Genet A. 2003. PMID: 12784289
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: kerr b. J Med Genet. 2005 Apr;42(4):307-13. doi: 10.1136/jmg.2004.027755. J Med Genet. 2005. PMID: 15805156 Free PMC article.
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Harrison R, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Moon J, Luo Y, Holder S, Smithson SF, Hurst JA, Clayton-Smith J, Kerr B, Boyle J, Shaw M, Vandeleur L, Rodriguez J, Slaugh R, Easton DF, Wooster R, Bobrow M, Srivastava AK, Stevenson RE, Schwartz CE, Turner G, Gecz J, Futreal PA, Stratton MR, Partington M. Tarpey PS, et al. Among authors: kerr b. Am J Hum Genet. 2007 Feb;80(2):345-52. doi: 10.1086/511134. Epub 2007 Jan 4. Am J Hum Genet. 2007. PMID: 17236139 Free PMC article.
Mutations in HPSE2 cause urofacial syndrome.
Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Daly SB, et al. Among authors: kerr b. Am J Hum Genet. 2010 Jun 11;86(6):963-9. doi: 10.1016/j.ajhg.2010.05.006. Am J Hum Genet. 2010. PMID: 20560210 Free PMC article.
729 results