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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Lalani SR, et al. Among authors: safiullah am. Am J Hum Genet. 2006 Feb;78(2):303-14. doi: 10.1086/500273. Epub 2005 Dec 29. Am J Hum Genet. 2006. PMID: 16400610 Free PMC article.
SNP genotyping to screen for a common deletion in CHARGE syndrome.
Lalani SR, Safiullah AM, Fernbach SD, Phillips M, Bacino CA, Molinari LM, Glass NL, Towbin JA, Craigen WJ, Belmont JW. Lalani SR, et al. Among authors: safiullah am. BMC Med Genet. 2005 Feb 14;6:8. doi: 10.1186/1471-2350-6-8. BMC Med Genet. 2005. PMID: 15710038 Free PMC article.
SEMA3E mutation in a patient with CHARGE syndrome.
Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW. Lalani SR, et al. Among authors: safiullah am. J Med Genet. 2004 Jul;41(7):e94. doi: 10.1136/jmg.2003.017640. J Med Genet. 2004. PMID: 15235037 Free PMC article. No abstract available.