Selected Publications


Gould, D.B., Phalan, F.C., van Mil, S.E., Sundberg, J.P., Massin, P., Vahedi, K., Huetink, P., Miner, J.H., Tournier-Lasserve, E., and John, S.W.M. (2006). COL4A1 mutation is associated with small vessel disease and predisposes to hemorrhagic stroke. N Engl J Med. 354 (14), 1489-96. Highlighted in N Engl J Med. 354 (14), 1451-3

Breedveld, G.J., de Coo, I.F., Lequin, M.H., Arts, W.F.M., Heutink, P., Gould, D.B., John, S.W.M., Oostra, B., and Mancini, G.M.S. (2006). Novel COL4A1 mutations in hereditary porencephaly: evidence for reduced penetrance. J Med Genet. 43 (6), 490-5.

Gould, D.B., Phalan, F.C., Breedveld, G.J., van Mil, S.E., Smith, R.S., Schimenti, J.C., Aguglia, U., van der Knaap M.S., Heutink, P., and John, S.W.M. (2005). Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science. 308 (5725), 1167-71. Cited by Faculty of 1000.
http://www.f1000biology.com/article/15905400/evaluation
Highlighted in Lancet Neurology - Vol. 4, Issue 7, July 2005, Page 400

Anderson, M.G., Libby, R.T., Gould, D.B., Smith, R.S., and John, S.W.M. (2005). High-dose radiation treatment prevents neurodegeneration in glaucoma. Proc Natl Acad Sci USA. 102 (12), 4566-71.

Libby, R.T., Gould, D.B., Anderson, M.G. and John, S.W.M. (2005). Complex genetics of glaucoma. Annu Rev Genomics Hum Genet. 6, 15-44.

Gould, D.B., Miceli-Libby, L., Savinova, O.V., Torrado, M., Tomarev, S.I., Smith, R.S., and John, S.W.M. (2004). Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. Mol Cell Biol. 24 (20), 9019-25.

Gould, D.B., Smith R.S., and John, S.W.M. (2004). Anterior segment development relevant to glaucoma. Int. J. Dev. Biol. 48 (8-9), 1015-29.

Gould, D.B., Jaafar, M.S., Addison, M.K., Munier, F., Ritch, R., MacDonald, I.M., and Walter, M.A. (2004). Phenotypic and molecular characterization of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment. BMC Med Genet. 5(1), 17.

Gould, D.B., and John, S.W.M. (2002). Anterior segment malformations and the developmental glaucomas are complex traits. Hum Mol Genet. 11 (10), 1185-93.

Kume T., Dengo, K.Y., Winfreyo, V., Gould, D.B., Walter, M.A., and Hogan, B.L.M. (1998). The forkhead/winged helix Gene, Mf1, is disrupted in the pleiotropic mouse mutation, congnenital hydrocephalus. Cell. 93 (6), 985-96.

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