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Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.
Ishibashi M, Manning E, Shoubridge C, Krecsmarik M, Hawkins TA, Giacomotto J, Zhao T, Mueller T, Bader PI, Cheung SW, Stankiewicz P, Bain NL, Hackett A, Reddy CC, Mechaly AS, Peers B, Wilson SW, Lenhard B, Bally-Cuif L, Gecz J, Becker TS, Rinkwitz S. Ishibashi M, et al. Among authors: bain nl. Hum Genet. 2015 Nov;134(11-12):1163-82. doi: 10.1007/s00439-015-1594-x. Epub 2015 Sep 4. Hum Genet. 2015. PMID: 26337422
FOXP1 mutations cause intellectual disability and a recognizable phenotype.
Le Fevre AK, Taylor S, Malek NH, Horn D, Carr CW, Abdul-Rahman OA, O'Donnell S, Burgess T, Shaw M, Gecz J, Bain N, Fagan K, Hunter MF. Le Fevre AK, et al. Am J Med Genet A. 2013 Dec;161A(12):3166-75. doi: 10.1002/ajmg.a.36174. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214399
Outfoxed by RBFOX1-a caution about ascertainment bias.
Kamien B, Lionel AC, Bain N, Scherer SW, Hunter M. Kamien B, et al. Am J Med Genet A. 2014 Jun;164A(6):1411-8. doi: 10.1002/ajmg.a.36458. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664471
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
Chatron N, Haddad V, Andrieux J, Désir J, Boute O, Dieux A, Baumann C, Drunat S, Gérard M, Bonnet C, Leheup B, Till M, Rossi M, Flori E, Alembik Y, Stewart H, McParland J, Bernardini L, Castelluccio P, Roos L, Tümer Z, Fagan K, Hackett A, Bain N, van Haeringen A, Ruivenkamp C, Benzacken B, Sanlaville D, Edery P, Aboura A, Schluth-Bolard C. Chatron N, et al. Am J Med Genet A. 2015 May;167A(5):1008-17. doi: 10.1002/ajmg.a.36856. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25728055
Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories.
Wright DC, Adayapalam N, Bain N, Bain SM, Brown A, Buzzacott N, Carey L, Cross J, Dun K, Joy C, McCarthy C, Moore S, Murch AR, O'Malley F, Parker E, Watt J, Wilkin H, Fagan K, Pertile MD, Peters GB. Wright DC, et al. Pathology. 2016 Oct;48(6):586-96. doi: 10.1016/j.pathol.2016.05.009. Epub 2016 Aug 26. Pathology. 2016. PMID: 27575971
14 results