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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study; McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM. Snijders Blok L, et al. Among authors: fisher se. Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8. Hum Genet. 2018. PMID: 29740699 Free PMC article.
The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder.
Lai CS, Fisher SE, Hurst JA, Levy ER, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison DC, Green ED, Vargha-Khadem F, Monaco AP. Lai CS, et al. Among authors: fisher se. Am J Hum Genet. 2000 Aug;67(2):357-68. doi: 10.1086/303011. Epub 2000 Jul 5. Am J Hum Genet. 2000. PMID: 10880297 Free PMC article.
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder.
Fisher SE, Francks C, McCracken JT, McGough JJ, Marlow AJ, MacPhie IL, Newbury DF, Crawford LR, Palmer CG, Woodward JA, Del'Homme M, Cantwell DP, Nelson SF, Monaco AP, Smalley SL. Fisher SE, et al. Am J Hum Genet. 2002 May;70(5):1183-96. doi: 10.1086/340112. Epub 2002 Mar 28. Am J Hum Genet. 2002. PMID: 11923911 Free PMC article.
Use of multivariate linkage analysis for dissection of a complex cognitive trait.
Marlow AJ, Fisher SE, Francks C, MacPhie IL, Cherny SS, Richardson AJ, Talcott JB, Stein JF, Monaco AP, Cardon LR. Marlow AJ, et al. Among authors: fisher se. Am J Hum Genet. 2003 Mar;72(3):561-70. doi: 10.1086/368201. Epub 2003 Feb 13. Am J Hum Genet. 2003. PMID: 12587094 Free PMC article.
408 results