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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Talkowski ME, et al. Among authors: solomon bd. Cell. 2012 Apr 27;149(3):525-37. doi: 10.1016/j.cell.2012.03.028. Epub 2012 Apr 19. Cell. 2012. PMID: 22521361 Free PMC article.
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
Kauvar EF, Hu P, Pineda-Alvarez DE, Solomon BD, Dutra A, Pak E, Blessing B, Proud V, Shanske AL, Stevens CA, Rosenfeld JA, Shaffer LG, Roessler E, Muenke M. Kauvar EF, et al. Among authors: solomon bd. Mol Genet Metab. 2011 Apr;102(4):470-80. doi: 10.1016/j.ymgme.2010.12.008. Epub 2010 Dec 21. Mol Genet Metab. 2011. PMID: 21227728 Free PMC article.
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.
Agochukwu NB, Solomon BD, Gropman AL, Muenke M. Agochukwu NB, et al. Among authors: solomon bd. Pediatr Neurol. 2012 Nov;47(5):355-61. doi: 10.1016/j.pediatrneurol.2012.07.004. Pediatr Neurol. 2012. PMID: 23044018 Free PMC article. Review.
TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.
Keaton AA, Solomon BD, Kauvar EF, El-Jaick KB, Gropman AL, Zafer Y, Meck JM, Bale SJ, Grange DK, Haddad BR, Gowans GC, Clegg NJ, Delgado MR, Hahn JS, Pineda-Alvarez DE, Lacbawan F, Vélez JI, Roessler E, Muenke M. Keaton AA, et al. Among authors: solomon bd. Mol Syndromol. 2010;1(5):211-222. doi: 10.1159/000328203. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22125506 Free PMC article.
Holoprosencephaly due to numeric chromosome abnormalities.
Solomon BD, Rosenbaum KN, Meck JM, Muenke M. Solomon BD, et al. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):146-8. doi: 10.1002/ajmg.c.30232. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104610 Free PMC article. Review.
Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease.
Vélez JI, Chandrasekharappa SC, Henao E, Martinez AF, Harper U, Jones M, Solomon BD, Lopez L, Garcia G, Aguirre-Acevedo DC, Acosta-Baena N, Correa JC, Lopera-Gómez CM, Jaramillo-Elorza MC, Rivera D, Kosik KS, Schork NJ, Swanson JM, Lopera F, Arcos-Burgos M. Vélez JI, et al. Among authors: solomon bd. Mol Psychiatry. 2013 May;18(5):568-75. doi: 10.1038/mp.2012.81. Epub 2012 Jun 19. Mol Psychiatry. 2013. PMID: 22710270 Free PMC article.
195 results