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Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Kaspi A, Hildebrand MS, Jackson VE, Braden R, van Reyk O, Howell T, Debono S, Lauretta M, Morison L, Coleman MJ, Webster R, Coman D, Goel H, Wallis M, Dabscheck G, Downie L, Baker EK, Parry-Fielder B, Ballard K, Harrold E, Ziegenfusz S, Bennett MF, Robertson E, Wang L, Boys A, Fisher SE, Amor DJ, Scheffer IE, Bahlo M, Morgan AT. Kaspi A, et al. Among authors: scheffer ie. Mol Psychiatry. 2023 Apr;28(4):1647-1663. doi: 10.1038/s41380-022-01764-8. Mol Psychiatry. 2023. PMID: 36117209 Free PMC article.
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Bruno DL, et al. Among authors: scheffer ie. J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17. J Med Genet. 2009. PMID: 19015223
Recent advances in the molecular genetics of epilepsy.
Hildebrand MS, Dahl HH, Damiano JA, Smith RJ, Scheffer IE, Berkovic SF. Hildebrand MS, et al. Among authors: scheffer ie. J Med Genet. 2013 May;50(5):271-9. doi: 10.1136/jmedgenet-2012-101448. Epub 2013 Mar 6. J Med Genet. 2013. PMID: 23468209 Review.
Does variation in NIPA2 contribute to genetic generalized epilepsy?
Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Scheffer IE, Berkovic SF. Hildebrand MS, et al. Among authors: scheffer ie. Hum Genet. 2014 May;133(5):673-4. doi: 10.1007/s00439-013-1414-0. Epub 2014 Jan 10. Hum Genet. 2014. PMID: 24408008 No abstract available.
GRIN2A: an aptly named gene for speech dysfunction.
Turner SJ, Mayes AK, Verhoeven A, Mandelstam SA, Morgan AT, Scheffer IE. Turner SJ, et al. Among authors: scheffer ie. Neurology. 2015 Feb 10;84(6):586-93. doi: 10.1212/WNL.0000000000001228. Epub 2015 Jan 16. Neurology. 2015. PMID: 25596506 Free PMC article.
656 results