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De novo TBR1 mutations in sporadic autism disrupt protein functions.
Deriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE. Deriziotis P, et al. Nat Commun. 2014 Sep 18;5:4954. doi: 10.1038/ncomms5954. Nat Commun. 2014. PMID: 25232744 Free PMC article.
Insights into the genetic foundations of human communication.
Graham SA, Deriziotis P, Fisher SE. Graham SA, et al. Among authors: deriziotis p. Neuropsychol Rev. 2015 Mar;25(1):3-26. doi: 10.1007/s11065-014-9277-2. Epub 2015 Jan 18. Neuropsychol Rev. 2015. PMID: 25597031 Review.
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sánchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME; DDD Study; Fisher SE, Logan DW. Dias C, et al. Among authors: deriziotis p. Am J Hum Genet. 2016 Aug 4;99(2):253-74. doi: 10.1016/j.ajhg.2016.05.030. Epub 2016 Jul 21. Am J Hum Genet. 2016. PMID: 27453576 Free PMC article.
25 results