Myoclonus generators in sialidosis by Vial, Felipe, McGurrin, Patrick, Attaripour, Sanaz, d'Azzo, Alesandra, Tifft, Cynthia J, Toro, Camilo, Hallett, Mark

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Clinical Heterogeneity in Mitochondrial DNA Deletion Disorders: A Diagnostic Challenge of Pearson Syndrome by Lacbawan, Felicitas, Tifft, Cynthia J., Luban, Naomi L.C., Schmandt, Susanne M., Guerrera, Michael, Weinstein, Steven, Pennybacker, Mark, Wong, Lee-Jun C.

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Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls by Shotelersuk, Vorasuk, Tifft, Cynthia J., Vacha, Scott, Peters, Kathryn F., Biesecker, Leslie G.

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Identification of Domains in Human β-Hexosaminidase That Determine Substrate Specificity by Pennybacker, Mark, Liessem, Bernd, Moczall, Heidi, Tifft, Cynthia J., Sandhoff, Konrad, Proia, Richard L.

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The folding and cell surface expression of CD4 requires glycosylation by Tifft, C J, Proia, R L, Camerini-Otero, R D

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Radiologic changes in infancy in McKusick cartilage hair hypoplasia by Glass, Ronald B.J., Tifft, Cynthia J.

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A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease by Burke, Elizabeth A, Reichard, Kyle E, Wolfe, Lynne A, Brooks, Brian P, DiGiovanna, John J, Hadley, Donald W, Lehky, Tanya J, Gropman, Andrea L, Tifft, Cynthia J, Gahl, William A, Toro, Camilo, Adams, David

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Identification of Domains in Human β-Hexosaminidase That Determine Substrate Specificity by Mark Pennybacker, Bernd Liessem, Heidi Moczall, Cynthia J. Tifft, Konrad Sandhoff, Richard L. Proia

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Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency by Grunseich, Christopher, Schindler, Alice B, Chen, Ke-Lian, Bakar, Dara, Mankodi, Ami, Traslavina, Ryan, Ray-Chaudhury, Abhik, Lehky, Tanya J, Baker, Eva H, Maragakis, Nicholas J, Tifft, Cynthia J, Fischbeck, Kenneth H

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IRF2BPL Is Associated with Neurological Phenotypes by Shashi, Vandana, Spillmann, Rebecca C., Stong, Nicholas, Rosenfeld, Jill A., Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Vera, Moin U., Graham, John M., Infante, Elena, Zuo, Zhongyuan, Lee, Pei-Tseng, Xia, Fan, Smith, Edward C., Jasien, Joan, Spiridigliozzi, Gail, Koeberl, Dwight D., Golden-Grant, Katie, Terryn, Wim, Adams, David R., Allard, Patrick, Bacino, Carlos A., Bick, David P., Bostwick, Bret L., Brush, Matthew, Burrage, Lindsay C., Clark, Gary D., Coakley, Terra R., Cooper, Cynthia M., D’Souza, Precilla, Davids, Mariska, Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Esteves, Cecilia, Fogel, Brent L., Gahl, William A., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Howerton, Ellen M., Jiang, Yong-hui, Johnston, Jean M., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lee, Brendan H., Levy, Shawn E., Lewis, Richard A., Lipson, Allen, Loo, Sandra K., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Martínez-Agosto, Julian A., McConkie-Rosell, Allyn, McCormack, Colleen E., Morimoto, Marie, Mulvihill, John J., Muzny, Donna M., Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Robertson, Amy K., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Silverman, Edwin K., Smith, Kevin S., Splinter, Kimberly, Stoler, Joan M., Sweetser, David A., Toro, Camilo, Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Waters, Katrina M., Westerfield, Monte, Yamamoto, Shinya, Yu, Guoyun, Zheng, Allison, Wangler, Michael F., Nelson, Stanley F., Bellen, Hugo J.

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Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS) by Jones, S. A., Almássy, Z., Beck, M., Burt, K., Clarke, J. T., Giugliani, R., Hendriksz, C., Kroepfl, T., Lavery, L., Lin, S.-P., Malm, G., Ramaswami, U., Tincheva, R., Wraith, J. E.

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Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation by Gropman, Andrea, Chen, Tian‐Jian, Perng, Cherng‐Lih, Krasnewich, Donna, Chernoff, Edith, Tifft, Cynthia, Wong, Lee‐Jun C.

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