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KBG syndrome: An Australian experience.
Murray N, Burgess B, Hay R, Colley A, Rajagopalan S, McGaughran J, Patel C, Enriquez A, Goodwin L, Stark Z, Tan T, Wilson M, Roscioli T, Tekin M, Goel H. Murray N, et al. Among authors: goel h. Am J Med Genet A. 2017 Jul;173(7):1866-1877. doi: 10.1002/ajmg.a.38121. Epub 2017 Apr 27. Am J Med Genet A. 2017. PMID: 28449295
Maternal attitudes to newborn screening for fragile X syndrome.
Christie L, Wotton T, Bennetts B, Wiley V, Wilcken B, Rogers C, Boyle J, Turner C, Hansen J, Hunter M, Goel H, Field M. Christie L, et al. Among authors: goel h. Am J Med Genet A. 2013 Feb;161A(2):301-11. doi: 10.1002/ajmg.a.35752. Epub 2013 Jan 9. Am J Med Genet A. 2013. PMID: 23303663
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Expansion of phenotype of DDX3X syndrome: six new cases.
Beal B, Hayes I, McGaughran J, Amor DJ, Miteff C, Jackson V, van Reyk O, Subramanian G, Hildebrand MS, Morgan AT, Goel H. Beal B, et al. Among authors: goel h. Clin Dysmorphol. 2019 Oct;28(4):169-174. doi: 10.1097/MCD.0000000000000289. Clin Dysmorphol. 2019. PMID: 31274575
352 results