Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease von Jarrett, Pamela, Easton, Alexander, Rockwood, Kenneth, Dyack, Sarah, McCollum, Alexander, Siu, Victoria, Mirsattari, Seyed M., Massot-Tarrús, Andreu, Beis, M. Jill, D’Souza, Nolan, Darvesh, Sultan

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The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease von Robitaille, Johane M, Zheng, Binyou, Wallace, Karin, Beis, M Jill, Tatlidil, Cuneyt, Yang, Jenny, Sheidow, Tom G, Siebert, Lee, Levin, Alex V, Lam, Wai-Ching, Arthur, Brian W, Lyons, Christopher J, Jaakkola, Elisa, Tsilou, Ekaterini, Williams, Charles A, Weaver, Richard Grey, Shields, Carol L, Guernsey, Duane L

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Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused by FZD4 Mutations in two Distinct Pedigrees von Robitaille, Johane M., Wallace, Karin, Zheng, Binyou, Beis, M. Jill, Samuels, Mark, Hoskin-Mott, Ann, Guernsey, Duane L.

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Multilocus Linkage Identifies Two New Loci for a Mendelian Form of Stroke, Cerebral Cavernous Malformation, at 7p15–13 and 3q25.2–27 von Craig, Holly D., Günel, Murat, Cepeda, Obed, Johnson, Eric W., Ptacek, Louis, Steinberg, Gary K., Ogilvy, Christopher S., Berg, Michael J., Crawford, Stephen C., Scott, R. Michael, Steichen-Gersdorf, Elizabeth, Sabroe, Ruth, Kennedy, C. T. C., Mettler, Gabrielle, Beis, M. Jill, Fryer, Alan, Awad, Issam A., Lifton, Richard P.

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Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene von Coulter-Mackie, M B, Gagnier, L, Beis, M J, Applegarth, D A, Cole, D E, Gordon, K, Ludman, M D

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Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia von Kohl, Susanne, Zobor, Ditta, Chiang, Wei-Chieh, Weisschuh, Nicole, Staller, Jennifer, Menendez, Irene Gonzalez, Chang, Stanley, Beck, Susanne C, Garrido, Marina Garcia, Sothilingam, Vithiyanjali, Seeliger, Mathias W, Stanzial, Franco, Benedicenti, Francesco, Inzana, Francesca, Héon, Elise, Vincent, Ajoy, Beis, Jill, Strom, Tim M, Rudolph, Günther, Roosing, Susanne, Hollander, Anneke I den, Cremers, Frans P M, Lopez, Irma, Ren, Huanan, Moore, Anthony T, Webster, Andrew R, Michaelides, Michel, Koenekoop, Robert K, Zrenner, Eberhart, Kaufman, Randal J, Tsang, Stephen H, Wissinger, Bernd, Lin, Jonathan H

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Phenotypic Spectrum of FZD4 Mutations von Robitaille, Johane M., Zheng, Binyou, Wallace, Karen, Samuels, Mark, Beis, Jill, Guernsey, Duane

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