• Aldinger, K. A., Timms, A. E., Thomson, Z., Mirzaa, G. M., Bennett, J. T., Rosenberg, A. B., Roco, C. M., Hirano, M., Abidi, F., Haldipur, P., Cheng, C. V., Collins, S., Park, K., Zeiger, J., Overmann, L. M., Alkuraya, F. S., Biesecker, L. G., Braddock, S. R., Cathey, S., Cho, M. T., Chung, B. H. Y., Everman, D. B., Zarate, Y. A., Jones, J. R., Schwartz, C. E., Goldstein, A., Hopkin, R. J., Krantz, I. D., Ladda, R. L., Leppig, K. A., McGillivray, B. C., Sell, S., Wusik, K., Gleeson, J. G., Nickerson, D. A., Bamshad, M. J., Gerrelli, D., Lisgo, S. N., Seelig, G., Ishak, G. E., Barkovich, A. J., Curry, C. J., Glass, I. A., Millen, K. J., Doherty, D. and Dobyns, W. B. (2019). Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet 105(3): 606-615.
• Carter, L. B., Battaglia, A., Cherry, A., Manning, M. A., Ruzhnikov, M. R., Bird, L. M., Dowsett, L., Graham, J. M., Jr., Alkuraya, F. S., Hashem, M., Dinulos, M. B., Vallee, S., Adam, M. P., Glass, I., Beck, A. E., Stevens, C. A., Zackai, E., McDougall, C., Keena, B., Peron, A., Vignoli, A., Seaver, L. H., Slavin, T. P. and Hudgins, L. (2019). Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy. Am J Med Genet A 179(8): 1543-1546.
• Haldipur, P., Aldinger, K. A., Bernardo, S., Deng, M., Timms, A. E., Overman, L. M., Winter, C., Lisgo, S. N., Razavi, F., Silvestri, E., Manganaro, L., Adle-Biassette, H., Guimiot, F., Russo, R., Kidron, D., Hof, P. R., Gerrelli, D., Lindsay, S. J., Dobyns, W. B., Glass, I. A., Alexandre, P. and Millen, K. J. (2019). Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science 366(6464): 454-460.
• Haldipur, P., Aldinger, K. A., Bernardo, S., Deng, M., Timms, A. E., Overman, L. M., Winter, C., Lisgo, S. N., Razavi, F., Silvestri, E., Manganaro, L., Adle-Biassette, H., Guimiot, F., Russo, R., Kidron, D., Hof, P. R., Gerrelli, D., Lindsay, S. J., Dobyns, W. B., Glass, I. A., Alexandre, P. and Millen, K. J. (2019). Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science 366(6464): 454-460.
• Haldipur, P., Aldinger, K. A., Bernardo, S., Deng, M., Timms, A. E., Overman, L. M., Winter, C., Lisgo, S. N., Razavi, F., Silvestri, E., Manganaro, L., Adle-Biassette, H., Guimiot, F., Russo, R., Kidron, D., Hof, P. R., Gerrelli, D., Lindsay, S. J., Dobyns, W. B., Glass, I. A., Alexandre, P. and Millen, K. J. (2019). Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science 366(6464): 454-460.
• Paine, I., Posey, J. E., Grochowski, C. M., Jhangiani, S. N., Rosenheck, S., Kleyner, R., Marmorale, T., Yoon, M., Wang, K., Robison, R., Cappuccio, G., Pinelli, M., Magli, A., Coban Akdemir, Z., Hui, J., Yeung, W. L., Wong, B. K. Y., Ortega, L., Bekheirnia, M. R., Bierhals, T., Hempel, M., Johannsen, J., Santer, R., Aktas, D., Alikasifoglu, M., Bozdogan, S., Aydin, H., Karaca, E., Bayram, Y., Ityel, H., Dorschner, M., White, J. J., Wilichowski, E., Wortmann, S. B., Casella, E. B., Kitajima, J. P., Kok, F., Monteiro, F., Muzny, D. M., Bamshad, M., Gibbs, R. A., Sutton, V. R., University of Washington Center for Mendelian Genomics, B.-H. C. f. M. G. T. U. D. P., Van Esch, H., Brunetti-Pierri, N., Hildebrandt, F., Brautbar, A., Van den Veyver, I. B., Glass, I., Lessel, D., Lyon, G. J. and Lupski, J. R. (2019). Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet 105(2): 302-316.
• Roy, A., Murphy, R. M., Deng, M., MacDonald, J. W., Bammler, T. K., Aldinger, K. A., Glass, I. A. and Millen, K. J. (2019). PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice. Elife 8.
• Cox, L. L., Cox, T. C., Moreno Uribe, L. M., Zhu, Y., Richter, C. T., Nidey, N., Standley, J. M., Deng, M., Blue, E., Chong, J. X., Yang, Y., Carstens, R. P., Anand, D., Lachke, S. A., Smith, J. D., Dorschner, M. O., Bedell, B., Kirk, E., Hing, A. V., Venselaar, H., Valencia-Ramirez, L. C., Bamshad, M. J., Glass, I. A., Cooper, J. A., Haan, E., Nickerson, D. A., van Bokhoven, H., Zhou, H., Krahn, K. N., Buckley, M. F., Murray, J. C., Lidral, A. C. and Roscioli, T. (2018). Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. Am J Hum Genet 102(6): 1143-1157.
• Whitley, B. N., Lam, C., Cui, H., Haude, K., Bai, R., Escobar, L., Hamilton, A., Brady, L., Tarnopolsky, M. A., Dengle, L., Picker, J., Lincoln, S., Lackner, L. L., Glass, I. A. and Hoppins, S. (2018). Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes. Hum Mol Genet 27(21): 3710-3719.
• Brooks, B. P., Zein, W. M., Thompson, A. H., Mokhtarzadeh, M., Doherty, D. A., Parisi, M., Glass, I. A., Malicdan, M. C., Vilboux, T., Vemulapalli, M., Mullikin, J. C., Gahl, W. A. and Gunay-Aygun, M. (2018). Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center. Ophthalmology 125(12): 1937-1952.
• Brooks, B. P., Zein, W. M., Thompson, A. H., Mokhtarzadeh, M., Doherty, D. A., Parisi, M., Glass, I. A., Malicdan, M. C., Vilboux, T., Vemulapalli, M., Mullikin, J. C., Gahl, W. A. and Gunay-Aygun, M. (2018). Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center. Ophthalmology 125(12): 1937-1952.
• Byers, H. M., Jensen, D. M., Glass, I. A. and Bennett, J. T. (2018). Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis. Am J Med Genet C Semin Med Genet 178(3): 374-378.
• Chang, I. J., Adam, M. P., Jayadev, S., Bird, T. D., Natarajan, N. and Glass, I. A. (2018). Novel pregnancy-triggered episodes of CAPOS syndrome. Am J Med Genet A 176(1): 235-240.
• Chang, I. J., Sun, A., Bouchard, M. L., Kamps, S. E., Hale, S., Done, S., Goldberg, M. J. and Glass, I. A. (2018). Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants. Am J Med Genet A 176(7): 1675-1679.
• Cox, L. L., Cox, T. C., Moreno Uribe, L. M., Zhu, Y., Richter, C. T., Nidey, N., Standley, J. M., Deng, M., Blue, E., Chong, J. X., Yang, Y., Carstens, R. P., Anand, D., Lachke, S. A., Smith, J. D., Dorschner, M. O., Bedell, B., Kirk, E., Hing, A. V., Venselaar, H., Valencia-Ramirez, L. C., Bamshad, M. J., Glass, I. A., Cooper, J. A., Haan, E., Nickerson, D. A., van Bokhoven, H., Zhou, H., Krahn, K. N., Buckley, M. F., Murray, J. C., Lidral, A. C. and Roscioli, T. (2018). Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. Am J Hum Genet 102(6): 1143-1157.
• Neradugomma, N. K., Drafton, K., O'Day, D. R., Liao, M. Z., Han, L. W., Glass, I. A. and Mao, Q. (2018). Marijuana use differentially affects cannabinoid receptor expression in early gestational human endometrium and placenta. Placenta 66: 36-39.
• Dempsey, J. C., Phelps, I. G., Bachmann-Gagescu, R., Glass, I. A., Tully, H. M. and Doherty, D. (2017). Mortality in Joubert syndrome. Am J Med Genet A 173(5): 1237-1242.
• Close, J. L., Yao, Z., Levi, B. P., Miller, J. A., Bakken, T. E., Menon, V., Ting, J. T., Wall, A., Krostag, A. R., Thomsen, E. R., Nelson, A. M., Mich, J. K., Hodge, R. D., Shehata, S. I., Glass, I. A., Bort, S., Shapovalova, N. V., Ngo, N. K., Grimley, J. S., Phillips, J. W., Thompson, C. L., Ramanathan, S. and Lein, E. (2017). Single-Cell Profiling of an In Vitro Model of Human Interneuron Development Reveals Temporal Dynamics of Cell Type Production and Maturation. Neuron 96(4): 949.
• Yao, Z., Mich, J. K., Ku, S., Menon, V., Krostag, A. R., Martinez, R. A., Furchtgott, L., Mulholland, H., Bort, S., Fuqua, M. A., Gregor, B. W., Hodge, R. D., Jayabalu, A., May, R. C., Melton, S., Nelson, A. M., Ngo, N. K., Shapovalova, N. V., Shehata, S. I., Smith, M. W., Tait, L. J., Thompson, C. L., Thomsen, E. R., Ye, C., Glass, I. A., Kaykas, A., Yao, S., Phillips, J. W., Grimley, J. S., Levi, B. P., Wang, Y. and Ramanathan, S. (2017). A Single-Cell Roadmap of Lineage Bifurcation in Human ESC Models of Embryonic Brain Development. Cell Stem Cell 20(1): 120-134.
• Dempsey, J. C., Phelps, I. G., Bachmann-Gagescu, R., Glass, I. A., Tully, H. M. and Doherty, D. (2017). Mortality in Joubert syndrome. Am J Med Genet A 173(5): 1237-1242.
• Peng, T., Chanthaphavong, R. S., Sun, S., Trigilio, J. A., Phasouk, K., Jin, L., Layton, E. D., Li, A. Z., Correnti, C. E., De van der Schueren, W., Vazquez, J., O'Day, D. R., Glass, I. A., Knipe, D. M., Wald, A., Corey, L. and Zhu, J. (2017). Keratinocytes produce IL-17c to protect peripheral nervous systems during human HSV-2 reactivation. J Exp Med 214(8): 2315-2329.
• Haldipur, P., Aldinger, K. A., Bernardo, S., Deng, M., Timms, A. E., Overman, L. M., Winter, C., Lisgo, S. N., Razavi, F., Silvestri, E., Manganaro, L., Adle-Biassette, H., Guimiot, F., Russo, R., Kidron, D., Hof, P. R., Gerrelli, D., Lindsay, S. J., Dobyns, W. B., Glass, I. A., Alexandre, P. and Millen, K. J. (2019). Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science 366(6464): 454-460.
• Bi, W., Glass, I. A., Muzny, D. M., Gibbs, R. A., Eng, C. M., Yang, Y. and Sun, A. (2016). Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A 170(8): 2181-2185.
• Dempsey, J. C., Phelps, I. G., Bachmann-Gagescu, R., Glass, I. A., Tully, H. M. and Doherty, D. (2017). Mortality in Joubert syndrome. Am J Med Genet A 173(5): 1237-1242.
• Bowdin, S., Gilbert, A., Bedoukian, E., Carew, C., Adam, M. P., Belmont, J., Bernhardt, B., Biesecker, L., Bjornsson, H. T., Blitzer, M., D'Alessandro, L. C., Deardorff, M. A., Demmer, L., Elliott, A., Feldman, G. L., Glass, I. A., Herman, G., Hindorff, L., Hisama, F., Hudgins, L., Innes, A. M., Jackson, L., Jarvik, G., Kim, R., Korf, B., Ledbetter, D. H., Li, M., Liston, E., Marshall, C., Medne, L., Meyn, M. S., Monfared, N., Morton, C., Mulvihill, J. J., Plon, S. E., Rehm, H., Roberts, A., Shuman, C., Spinner, N. B., Stavropoulos, D. J., Valverde, K., Waggoner, D. J., Wilkens, A., Cohn, R. D. and Krantz, I. D. (2016). Recommendations for the integration of genomics into clinical practice. Genet Med 18(11): 1075-1084.
• Mirzaa, G., Timms, A. E., Conti, V., Boyle, E. A., Girisha, K. M., Martin, B., Kircher, M., Olds, C., Juusola, J., Collins, S., Park, K., Carter, M., Glass, I., Krageloh-Mann, I., Chitayat, D., Parikh, A. S., Bradshaw, R., Torti, E., Braddock, S., Burke, L., Ghedia, S., Stephan, M., Stewart, F., Prasad, C., Napier, M., Saitta, S., Straussberg, R., Gabbett, M., O'Connor, B. C., Keegan, C. E., Yin, L. J., Lai, A. H. M., Martin, N., McKinnon, M., Addor, M. C., Boccuto, L., Schwartz, C. E., Lanoel, A., Conway, R. L., Devriendt, K., Tatton-Brown, K., Pierpont, M. E., Painter, M., Worgan, L., Reggin, J., Hennekam, R., Tsuchiya, K., Pritchard, C. C., Aracena, M., Gripp, K. W., Cordisco, M., Van Esch, H., Garavelli, L., Curry, C., Goriely, A., Kayserilli, H., Shendure, J., Graham, J., Jr., Guerrini, R. and Dobyns, W. B. (2016). PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight 1(9).
• Bachmann-Gagescu, R., Dempsey, J. C., Phelps, I. G., O'Roak, B. J., Knutzen, D. M., Rue, T. C., Ishak, G. E., Isabella, C. R., Gorden, N., Adkins, J., Boyle, E. A., de Lacy, N., O'Day, D., Alswaid, A., Ramadevi, A. R., Lingappa, L., Lourenco, C., Martorell, L., Garcia-Cazorla, A., Ozyurek, H., Haliloglu, G., Tuysuz, B., Topcu, M., University of Washington Center for Mendelian, G., Chance, P., Parisi, M. A., Glass, I. A., Shendure, J. and Doherty, D. (2015). Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet 52(8): 514-522.
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