Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication
Beck, Christine R, Carvalho, Claudia M B, Banser, Linda, Gambin, Tomasz, Stubbolo, Danielle, Yuan, Bo, Sperle, Karen, McCahan, Suzanne M, Henneke, Marco, Seeman, Pavel, Garbern, James Y, Hobson, Grace M, Lupski, James R
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS
Tantzer, Stephanie, Sperle, Karen, Kenaley, Kaitlin, Taube, Jennifer, Hobson, Grace M.
Published in Molecular therapy. Nucleic acids (07.09.2018)
Published in Molecular therapy. Nucleic acids (07.09.2018)
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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants
Bahrambeigi, Vahid, Song, Xiaofei, Sperle, Karen, Beck, Christine R, Hijazi, Hadia, Grochowski, Christopher M, Gu, Shen, Seeman, Pavel, Woodward, Karen J, Carvalho, Claudia M B, Hobson, Grace M, Lupski, James R
Published in Genome medicine (09.12.2019)
Published in Genome medicine (09.12.2019)
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Genome sequencing in persistently unsolved white matter disorders
Helman, Guy, Lajoie, Bryan R., Crawford, Joanna, Takanohashi, Asako, Walkiewicz, Marzena, Dolzhenko, Egor, Gross, Andrew M., Gainullin, Vladimir G., Bent, Stephen J., Jenkinson, Emma M., Ferdinandusse, Sacha, Waterham, Hans R., Dorboz, Imen, Bertini, Enrico, Miyake, Noriko, Wolf, Nicole I., Abbink, Truus E. M., Kirwin, Susan M., Tan, Christina M., Hobson, Grace M., Guo, Long, Ikegawa, Shiro, Pizzino, Amy, Schmidt, Johanna L., Bernard, Genevieve, Schiffmann, Raphael, Knaap, Marjo S., Simons, Cas, Taft, Ryan J., Vanderver, Adeline
Published in Annals of clinical and translational neurology (01.01.2020)
Published in Annals of clinical and translational neurology (01.01.2020)
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GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease
Gotoh, Leo, Inoue, Ken, Helman, Guy, Mora, Sara, Maski, Kiran, Soul, Janet S., Bloom, Miriam, Evans, Sarah H., Goto, Yu-ichi, Caldovic, Ljubica, Hobson, Grace M., Vanderver, Adeline
Published in Molecular genetics and metabolism (01.03.2014)
Published in Molecular genetics and metabolism (01.03.2014)
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Deletion of a splicing enhancer disrupts PLP1/DM20 ratio and myelin stability
Wang, Erming, Dimova, Neviana, Sperle, Karen, Huang, Zhong, Lock, Leslie, McCulloch, Mailis C., Edgar, Julia M., Hobson, Grace M., Cambi, Franca
Published in Experimental neurology (01.12.2008)
Published in Experimental neurology (01.12.2008)
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Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes
Nevin, Zachary S., Factor, Daniel C., Karl, Robert T., Douvaras, Panagiotis, Laukka, Jeremy, Windrem, Martha S., Goldman, Steven A., Fossati, Valentina, Hobson, Grace M., Tesar, Paul J.
Published in American journal of human genetics (06.04.2017)
Published in American journal of human genetics (06.04.2017)
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Auditory function in Pelizaeus–Merzbacher disease
Morlet, Thierry, Nagao, Kyoko, Bean, S. Charles, Mora, Sara E., Hopkins, Sarah E., Hobson, Grace M.
Published in Journal of neurology (01.07.2018)
Published in Journal of neurology (01.07.2018)
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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
Hijazi, Hadia, Reis, Linda M., Pehlivan, Davut, Bernstein, Jonathan A., Muriello, Michael, Syverson, Erin, Bonner, Devon, Estiar, Mehrdad A., Gan-Or, Ziv, Rouleau, Guy A., Lyulcheva, Ekaterina, Greenhalgh, Lynn, Tessarech, Marine, Colin, Estelle, Guichet, Agnès, Bonneau, Dominique, van Jaarsveld, R.H., Lachmeijer, A.M.A., Ruaud, Lyse, Levy, Jonathan, Tabet, Anne-Claude, Ploski, Rafal, Rydzanicz, Małgorzata, Kępczyński, Łukasz, Połatyńska, Katarzyna, Li, Yidan, Fatih, Jawid M., Marafi, Dana, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Bi, Weimin, Gibbs, Richard A., Hobson, Grace M., Hunter, Jill V., Carvalho, Claudia M.B., Posey, Jennifer E., Semina, Elena V., Lupski, James R.
Published in American journal of human genetics (01.12.2022)
Published in American journal of human genetics (01.12.2022)
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Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing
Schmidt, Johanna L., Pizzino, Amy, Nicholl, Jessica, Foley, Allison, Wang, Yue, Rosenfeld, Jill A., Mighion, Lindsey, Bean, Lora, Silva, Cristina, Cho, Megan T., Truty, Rebecca, Garcia, John, Speare, Virginia, Blanco, Kirsten, Powis, Zoe, Hobson, Grace M., Kirwin, Susan, Krock, Bryan, Lee, Hane, Deignan, Joshua L., Westemeyer, Maggie A., Subaran, Ryan L., Thiffault, Isabelle, Tsai, Ellen A., Fang, Terry, Helman, Guy, Vanderver, Adeline
Published in American journal of medical genetics. Part A (01.08.2020)
Published in American journal of medical genetics. Part A (01.08.2020)
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Journal Article
Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1
Sima, Anders A. F., Pierson, Christopher R., Woltjer, Randall L., Hobson, Grace M., Golden, Jeffrey A., Kupsky, William J., Schauer, Galen M., Bird, Thomas D., Skoff, Robert P., Garbern, James Y.
Published in Acta neuropathologica (01.10.2009)
Published in Acta neuropathologica (01.10.2009)
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PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing
Taube, Jennifer R, Sperle, Karen, Banser, Linda, Seeman, Pavel, Cavan, Barbra Charina V, Garbern, James Y, Hobson, Grace M
Published in Human molecular genetics (15.10.2014)
Published in Human molecular genetics (15.10.2014)
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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome
Hijazi, Hadia, Coelho, Fernanda S., Gonzaga‐Jauregui, Claudia, Bernardini, Laura, Mar, Soe S., Manning, Melanie A., Hanson‐Kahn, Andrea, Naidu, SakkuBai, Srivastava, Siddharth, Lee, Jennifer A., Jones, Julie R., Friez, Michael J., Alberico, Thomas, Torres, Barbara, Fang, Ping, Cheung, Sau Wai, Song, Xiaofei, Davis‐Williams, Angelique, Jornlin, Carly, Wight, Patricia A., Patyal, Pankaj, Taube, Jennifer, Poretti, Andrea, Inoue, Ken, Zhang, Feng, Pehlivan, Davut, Carvalho, Claudia M. B., Hobson, Grace M., Lupski, James R.
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Inside Back Cover, Volume 41, Issue 1
Hijazi, Hadia, Coelho, Fernanda S., Gonzaga‐Jauregui, Claudia, Bernardini, Laura, Mar, Soe S., Manning, Melanie A., Hanson‐Kahn, Andrea, Naidu, SakkuBai, Srivastava, Siddharth, Lee, Jennifer A., Jones, Julie R., Friez, Michael J., Alberico, Thomas, Torres, Barbara, Fang, Ping, Cheung, Sau Wai, Song, Xiaofei, Davis‐Williams, Angelique, Jornlin, Carly, Wight, Patricia A., Patyal, Pankaj, Taube, Jennifer, Poretti, Andrea, Inoue, Ken, Zhang, Feng, Pehlivan, Davut, Carvalho, Claudia M. B., Hobson, Grace M., Lupski, James R.
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication
Clark, Kristi, Sakowski, Lauren, Sperle, Karen, Banser, Linda, Landel, Carlisle P, Bessert, Denise A, Skoff, Robert P, Hobson, Grace M
Published in The Journal of neuroscience (17.07.2013)
Published in The Journal of neuroscience (17.07.2013)
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Corrigendum to “GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease” [Mol. Genet. Metab. 111 (2014) 393–398]
Gotoh, Leo, Inoue, Ken, Helman, Guy, Mora, Sara, Maski, Kiran, Soul, Janet S., Bloom, Miriam, Evans, Sarah H., Goto, Yu-ichi, Caldovic, Ljubica, Hobson, Grace M., Vanderver, Adeline
Published in Molecular genetics and metabolism (01.11.2016)
Published in Molecular genetics and metabolism (01.11.2016)
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Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect
Lee, Jennifer A., Madrid, Ricardo E., Sperle, Karen, Ritterson, Carolyn M., Hobson, Grace M., Garbern, James, Lupski, James R., Inoue, Ken
Published in Annals of neurology (01.02.2006)
Published in Annals of neurology (01.02.2006)
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Journal Article
Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1
Sima, Anders A. F., Pierson, Christopher R., Woltjer, Randall L., Hobson, Grace M., Golden, Jeffrey A., Kupsky, William J., Schauer, Galen M., Bird, Thomas D., Skoff, Robert P., Garbern, James Y.
Published in Acta neuropathologica (01.10.2009)
Published in Acta neuropathologica (01.10.2009)
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Journal Article
Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination
Woodward, Karen J., Cundall, Maria, Sperle, Karen, Sistermans, Erik A., Ross, Mark, Howell, Gareth, Gribble, Susan M., Burford, Deborah C., Carter, Nigel P., Hobson, Donald L., Garbern, James Y., Kamholz, John, Heng, Henry, Hodes, M.E., Malcolm, Sue, Hobson, Grace M.
Published in American journal of human genetics (01.12.2005)
Published in American journal of human genetics (01.12.2005)
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