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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Jeff M. Milunsky

Center for Human Genetics

Boston University School of Medicine

Massachusetts 02118



Name/email consistency: high



  • Center for Human Genetics, Boston University School of Medicine, Massachusetts 02118, USA. 1998 - 2011


  1. Genotype-phenotype analysis of the branchio-oculo-facial syndrome. Milunsky, J.M., Maher, T.M., Zhao, G., Wang, Z., Mulliken, J.B., Chitayat, D., Clemens, M., Stalker, H.J., Bauer, M., Burch, M., Chénier, S., Cunningham, M.L., Drack, A.V., Janssens, S., Karlea, A., Klatt, R., Kini, U., Klein, O., Lachmeijer, A.M., Megarbane, A., Mendelsohn, N.J., Meschino, W.S., Mortier, G.R., Parkash, S., Ray, C.R., Roberts, A., Roberts, A., Reardon, W., Schnur, R.E., Smith, R., Splitt, M., Tezcan, K., Whiteford, M.L., Wong, D.A., Zori, R., Lin, A.E. Am. J. Med. Genet. A (2011) [Pubmed]
  2. TFAP2A mutations result in branchio-oculo-facial syndrome. Milunsky, J.M., Maher, T.A., Zhao, G., Roberts, A.E., Stalker, H.J., Zori, R.T., Burch, M.N., Clemens, M., Mulliken, J.B., Smith, R., Lin, A.E. Am. J. Hum. Genet. (2008) [Pubmed]
  3. The value of MLPA in Waardenburg syndrome. Milunsky, J.M., Maher, T.A., Ito, M., Milunsky, A. Genet. Test. (2007) [Pubmed]
  4. LADD syndrome is caused by FGF10 mutations. Milunsky, J.M., Zhao, G., Maher, T.A., Colby, R., Everman, D.B. Clin. Genet. (2006) [Pubmed]
  5. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. Milunsky, J.M., Maher, T.A., Metzenberg, A.B. Am. J. Med. Genet. A (2003) [Pubmed]
  6. Cerebro-oculo-facial-lymphatic syndrome. Milunsky, J.M., Capin, D.M. Clin. Genet. (2003) [Pubmed]
  7. Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Milunsky, J.M., Huang, X.L. Clin. Genet. (2003) [Pubmed]
  8. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Milunsky, J.M., Maher, T.A., Michels, V.V., Milunsky, A. Am. J. Med. Genet. (2001) [Pubmed]
  9. Mutation analysis in Rett syndrome. Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A. Genet. Test. (2001) [Pubmed]
  10. Schizophrenia susceptibility gene locus at Xp22.3. Milunsky, J., Huang, X.L., Wyandt, H.E., Milunsky, A. Clin. Genet. (1999) [Pubmed]
  11. Prenatal diagnosis of spinal muscular atrophy by direct molecular analysis: efficacy and potential pitfalls. Milunsky, J.M., Cheney, S.M. Genet. Test. (1999) [Pubmed]
  12. Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins. Milunsky, J., Maher, T., Lebo, R., Milunsky, A. Fetal. Diagn. Ther. (1998) [Pubmed]
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