RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression
Labadorf, Adam, Hoss, Andrew G, Lagomarsino, Valentina, Latourelle, Jeanne C, Hadzi, Tiffany C, Bregu, Joli, MacDonald, Marcy E, Gusella, James F, Chen, Jiang-Fan, Akbarian, Schahram, Weng, Zhiping, Myers, Richard H
Published in PloS one (04.12.2015)
Published in PloS one (04.12.2015)
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Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9
Shin, Jun Wan, Kim, Kyung-Hee, Chao, Michael J, Atwal, Ranjit S, Gillis, Tammy, MacDonald, Marcy E, Gusella, James F, Lee, Jong-Min
Published in Human molecular genetics (15.10.2016)
Published in Human molecular genetics (15.10.2016)
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The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease
Keum, Jae Whan, Shin, Aram, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Abu Elneel, Kawther, Lucente, Diane, Hadzi, Tiffany, Holmans, Peter, Jones, Lesley, Orth, Michael, Kwak, Seung, MacDonald, Marcy E., Gusella, James F., Lee, Jong-Min
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia M., Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David J., Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.
Published in Cell (27.04.2012)
Published in Cell (27.04.2012)
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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
Sugathan, Aarathi, Biagioli, Marta, Golzio, Christelle, Erdin, Serkan, Blumenthal, Ian, Manavalan, Poornima, Ragavendran, Ashok, Brand, Harrison, Lucente, Diane, Miles, Judith, Sheridan, Steven D, Stortchevoi, Alexei, Kellis, Manolis, Haggarty, Stephen J, Katsanis, Nicholas, Gusella, James F, Talkowski, Michael E
Published in Proceedings of the National Academy of Sciences - PNAS (21.10.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (21.10.2014)
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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
GOLZIO, Christelle, WILLER, Jason, KAMIYA, Atsushi, BECKMANN, Jacques S, KATSANIS, Nicholas, TALKOWSKI, Michael E, OH, Edwin C, TANIGUCHI, Yu, JACQUEMONT, Sébastien, REYMOND, Alexandre, MEI SUN, SAWA, Akira, GUSELLA, James F
Published in Nature (London) (17.05.2012)
Published in Nature (London) (17.05.2012)
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Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
Lee, Jong-Min, Wheeler, Vanessa C., Chao, Michael J., Vonsattel, Jean Paul G., Pinto, Ricardo Mouro, Lucente, Diane, Abu-Elneel, Kawther, Ramos, Eliana Marisa, Mysore, Jayalakshmi Srinidhi, Gillis, Tammy, MacDonald, Marcy E., Gusella, James F., Harold, Denise, Stone, Timothy C., Escott-Price, Valentina, Han, Jun, Vedernikov, Alexey, Holmans, Peter, Jones, Lesley, Kwak, Seung, Mahmoudi, Mithra, Orth, Michael, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Dorsey, E. Ray, Shoulson, Ira, Myers, Richard H.
Published in Cell (30.07.2015)
Published in Cell (30.07.2015)
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A cross-disorder dosage sensitivity map of the human genome
Collins, Ryan L., Glessner, Joseph T., Porcu, Eleonora, Lepamets, Maarja, Brandon, Rhonda, Lauricella, Christopher, Han, Lide, Morley, Theodore, Niestroj, Lisa-Marie, Ulirsch, Jacob, Everett, Selin, Howrigan, Daniel P., Boone, Philip M., Fu, Jack, Karczewski, Konrad J., Kellaris, Georgios, Lowther, Chelsea, Lucente, Diane, Mohajeri, Kiana, Nõukas, Margit, Nuttle, Xander, Samocha, Kaitlin E., Trinh, Mi, Ullah, Farid, Võsa, Urmo, Metspalu, Andres, Mägi, Reedik, Nelis, Mari, Milani, Lili, Esko, Tõnu, Hurles, Matthew E., Aradhya, Swaroop, Davis, Erica E., Finucane, Hilary, Gusella, James F., Janze, Aura, Katsanis, Nicholas, Matyakhina, Ludmila, Neale, Benjamin M., Sanders, David, Warren, Stephanie, Hodge, Jennelle C., Lal, Dennis, Ruderfer, Douglas M., Meck, Jeanne, Mägi, Reedik, Esko, Tõnu, Reymond, Alexandre, Kutalik, Zoltán, Hakonarson, Hakon, Sunyaev, Shamil, Brand, Harrison, Talkowski, Michael E.
Published in Cell (04.08.2022)
Published in Cell (04.08.2022)
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Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration
Lee, Jong-Min, MacDonald, Marcy E, Gusella, James F
Published in American journal of human genetics (07.07.2022)
Published in American journal of human genetics (07.07.2022)
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MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis
Hoss, Andrew G, Kartha, Vinay K, Dong, Xianjun, Latourelle, Jeanne C, Dumitriu, Alexandra, Hadzi, Tiffany C, Macdonald, Marcy E, Gusella, James F, Akbarian, Schahram, Chen, Jiang-Fan, Weng, Zhiping, Myers, Richard H
Published in PLoS genetics (01.02.2014)
Published in PLoS genetics (01.02.2014)
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Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease
McAllister, Branduff, Gusella, James F, Landwehrmeyer, G Bernhard, Lee, Jong-Min, MacDonald, Marcy E, Orth, Michael, Rosser, Anne E, Williams, Nigel M, Holmans, Peter, Jones, Lesley, Massey, Thomas H
Published in Neurology (11.05.2021)
Published in Neurology (11.05.2021)
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Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families
Blumenthal, Ian, Ragavendran, Ashok, Erdin, Serkan, Klei, Lambertus, Sugathan, Aarathi, Guide, Jolene R., Manavalan, Poornima, Zhou, Julian Q., Wheeler, Vanessa C., Levin, Joshua Z., Ernst, Carl, Roeder, Kathryn, Devlin, Bernie, Gusella, James F., Talkowski, Michael E.
Published in American journal of human genetics (05.06.2014)
Published in American journal of human genetics (05.06.2014)
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A modifier of Huntington's disease onset at the MLH1 locus
Lee, Jong-Min, Chao, Michael J, Harold, Denise, Abu Elneel, Kawther, Gillis, Tammy, Holmans, Peter, Jones, Lesley, Orth, Michael, Myers, Richard H, Kwak, Seung, Wheeler, Vanessa C, MacDonald, Marcy E, Gusella, James F
Published in Human molecular genetics (01.10.2017)
Published in Human molecular genetics (01.10.2017)
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CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing
Kerschbamer, Emanuela, Arnoldi, Michele, Tripathi, Takshashila, Pellegrini, Miguel, Maturi, Samuele, Erdin, Serkan, Salviato, Elisa, Di Leva, Francesca, Sebestyén, Endre, Dassi, Erik, Zarantonello, Giulia, Benelli, Matteo, Campos, Eric, Basson, M Albert, Gusella, James F, Gustincich, Stefano, Piazza, Silvano, Demichelis, Francesca, Talkowski, Michael E, Ferrari, Francesco, Biagioli, Marta
Published in Nucleic acids research (09.12.2022)
Published in Nucleic acids research (09.12.2022)
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Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out
Loupe, Jacob M, Pinto, Ricardo Mouro, Kim, Kyung-Hee, Gillis, Tammy, Mysore, Jayalakshmi S, Andrew, Marissa A, Kovalenko, Marina, Murtha, Ryan, Seong, IhnSik, Gusella, James F, Kwak, Seung, Howland, David, Lee, Ramee, Lee, Jong-Min, Wheeler, Vanessa C, MacDonald, Marcy E
Published in Human molecular genetics (04.11.2020)
Published in Human molecular genetics (04.11.2020)
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Inhibition of p25/Cdk5 Attenuates Tauopathy in Mouse and iPSC Models of Frontotemporal Dementia
Seo, Jinsoo, Kritskiy, Oleg, Watson, L Ashley, Barker, Scarlett J, Dey, Dilip, Raja, Waseem K, Lin, Yuan-Ta, Ko, Tak, Cho, Sukhee, Penney, Jay, Silva, M Catarina, Sheridan, Steven D, Lucente, Diane, Gusella, James F, Dickerson, Bradford C, Haggarty, Stephen J, Tsai, Li-Huei
Published in The Journal of neuroscience (11.10.2017)
Published in The Journal of neuroscience (11.10.2017)
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Population-specific genetic modification of Huntington's disease in Venezuela
Chao, Michael J, Kim, Kyung-Hee, Shin, Jun Wan, Lucente, Diane, Wheeler, Vanessa C, Li, Hong, Roach, Jared C, Hood, Leroy, Wexler, Nancy S, Jardim, Laura B, Holmans, Peter, Jones, Lesley, Orth, Michael, Kwak, Seung, MacDonald, Marcy E, Gusella, James F, Lee, Jong-Min
Published in PLoS genetics (11.05.2018)
Published in PLoS genetics (11.05.2018)
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16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro
Sundberg, Maria, Pinson, Hannah, Smith, Richard S, Winden, Kellen D, Venugopal, Pooja, Tai, Derek J C, Gusella, James F, Talkowski, Michael E, Walsh, Christopher A, Tegmark, Max, Sahin, Mustafa
Published in Nature communications (18.05.2021)
Published in Nature communications (18.05.2021)
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