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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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Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1
Mouro Pinto, Ricardo, Arning, Larissa, Giordano, James V, Razghandi, Pedram, Andrew, Marissa A, Gillis, Tammy, Correia, Kevin, Mysore, Jayalakshmi S, Grote Urtubey, Debora-M, Parwez, Constanze R, von Hein, Sarah M, Clark, H Brent, Nguyen, Huu Phuc, Förster, Eckart, Beller, Allison, Jayadaev, Suman, Keene, C Dirk, Bird, Thomas D, Lucente, Diane, Vonsattel, Jean-Paul, Orr, Harry, Saft, Carsten, Petrasch-Parwez, Elisabeth, Wheeler, Vanessa C
Published in Human molecular genetics (29.08.2020)
Published in Human molecular genetics (29.08.2020)
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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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Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset
Swami, Meera, Hendricks, Audrey E., Gillis, Tammy, Massood, Tiffany, Mysore, Jayalakshmi, Myers, Richard H., Wheeler, Vanessa C.
Published in Human molecular genetics (15.08.2009)
Published in Human molecular genetics (15.08.2009)
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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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Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects
Kim, Kyung-Hee, Hong, Eun Pyo, Shin, Jun Wan, Chao, Michael J., Loupe, Jacob, Gillis, Tammy, Mysore, Jayalakshmi S., Holmans, Peter, Jones, Lesley, Orth, Michael, Monckton, Darren G., Long, Jeffrey D., Kwak, Seung, Lee, Ramee, Gusella, James F., MacDonald, Marcy E., Lee, Jong-Min
Published in American journal of human genetics (02.07.2020)
Published in American journal of human genetics (02.07.2020)
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Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs
Jung, Roy, Lee, Yejin, Barker, Douglas, Correia, Kevin, Shin, Baehyun, Loupe, Jacob, Collins, Ryan L, Lucente, Diane, Ruliera, Jayla, Gillis, Tammy, Mysore, Jayalakshmi S, Rodan, Lance, Picker, Jonathan, Lee, Jong-Min, Howland, David, Lee, Ramee, Kwak, Seung, MacDonald, Marcy E, Gusella, James F, Seong, Ihn Sik
Published in Human molecular genetics (26.04.2021)
Published in Human molecular genetics (26.04.2021)
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Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects
Lee, Jong-Min, McLean, Zachariah L., Correia, Kevin, Shin, Jun Wan, Lee, Sujin, Jang, Jae-Hyun, Lee, Yukyeong, Kim, Kyung-Hee, Choi, Doo Eun, Long, Jeffrey D., Lucente, Diane, Seong, Ihn Sik, Mouro Pinto, Ricardo, Giordano, James V., Mysore, Jayalakshmi S., Siciliano, Jacqueline, Elezi, Emanuela, Ruliera, Jayla, Gillis, Tammy, Wheeler, Vanessa C., MacDonald, Marcy E., Gusella, James F., Gatseva, Anna, Ciosi, Marc, Lomeikaite, Vilija, Loay, Hossameldin, Monckton, Darren G., Wills, Christopher, Massey, Thomas H., Jones, Lesley, Holmans, Peter, Kwak, Seung, Sampaio, Cristina, Orth, Michael, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Dorsey, E. Ray, Myers, Richard H.
Published in Nature genetics (01.06.2025)
Published in Nature genetics (01.06.2025)
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Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region
Lee, Jong-Min, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Ramos, Eliana Marisa, Myers, Richard H., Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Squitieri, Ferdinando, Griguoli, Annamaria, Di Donato, Stefano, Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge, MacDonald, Marcy E., Gusella, James F.
Published in American journal of human genetics (09.03.2012)
Published in American journal of human genetics (09.03.2012)
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Sequence-Level Analysis of the Major European Huntington Disease Haplotype
Lee, Jong-Min, Kim, Kyung-Hee, Shin, Aram, Chao, Michael J., Abu Elneel, Kawther, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Kaye, Julia A., Zahed, Hengameh, Kratter, Ian H., Daub, Aaron C., Finkbeiner, Steven, Li, Hong, Roach, Jared C., Goodman, Nathan, Hood, Leroy, Myers, Richard H., MacDonald, Marcy E., Gusella, James F.
Published in American journal of human genetics (03.09.2015)
Published in American journal of human genetics (03.09.2015)
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Genetic modifiers of Huntington disease differentially influence motor and cognitive domains
Lee, Jong-Min, Huang, Yuan, Orth, Michael, Gillis, Tammy, Siciliano, Jacqueline, Hong, Eunpyo, Mysore, Jayalakshmi Srinidhi, Lucente, Diane, Wheeler, Vanessa C., Seong, Ihn Sik, McLean, Zachariah L., Mills, James A., McAllister, Branduff, Lobanov, Sergey V., Massey, Thomas H., Ciosi, Marc, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Dorsey, E. Ray, Shoulson, Ira, Sampaio, Cristina, Monckton, Darren G., Kwak, Seung, Holmans, Peter, Jones, Lesley, MacDonald, Marcy E., Long, Jeffrey D., Gusella, James F.
Published in American journal of human genetics (05.05.2022)
Published in American journal of human genetics (05.05.2022)
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Assessment of cortical and striatal involvement in 523 Huntington disease brains
Hadzi, Tiffany C, Hendricks, Audrey E, Latourelle, Jeanne C, Lunetta, Kathryn L, Cupples, L Adrienne, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Gusella, James F, MacDonald, Marcy E, Myers, Richard H, Vonsattel, Jean-Paul
Published in Neurology (16.10.2012)
Published in Neurology (16.10.2012)
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Prevalence of Incompletely Penetrant Huntington's Disease Alleles Among Individuals With Major Depressive Disorder
Perlis, Roy H, Smoller, Jordan W, Mysore, Jayalakshmi, Sun, Mei, Gillis, Tammy, Purcell, Shaun, Rietschel, Marcella, Nöthen, Markus M, Witt, Stephanie, Maier, Wolfgang, Iosifescu, Dan V, Sullivan, Patrick, Rush, A. John, Fava, Maurizio, Breiter, Hans, Macdonald, Marcy, Gusella, James
Published in American Journal of Psychiatry (01.05.2010)
Published in American Journal of Psychiatry (01.05.2010)
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Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy
Lee, Jong-Min, Galkina, Ekaterina I., Levantovsky, Rachel M., Fossale, Elisa, Anne Anderson, Mary, Gillis, Tammy, Srinidhi Mysore, Jayalakshmi, Coser, Kathryn R., Shioda, Toshi, Zhang, Bin, Furia, Matthew D., Derry, Jonathan, Kohane, Isaac S., Seong, Ihn Sik, Wheeler, Vanessa C., Gusella, James F., MacDonald, Marcy E.
Published in Human molecular genetics (15.08.2013)
Published in Human molecular genetics (15.08.2013)
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Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase
Long, Jeffrey D., Lee, Jong-Min, Aylward, Elizabeth H., Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Abu Elneel, Kawther, Chao, Michael J., Paulsen, Jane S., MacDonald, Marcy E., Gusella, James F.
Published in American journal of human genetics (06.09.2018)
Published in American journal of human genetics (06.09.2018)
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Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder
Ramos, Eliana Marisa, Gillis, Tammy, Mysore, Jayalakshmi S, Lee, Jong-Min, Alonso, Isabel, Gusella, James F, Smoller, Jordan W, Sklar, Pamela, MacDonald, Marcy E, Perlis, Roy H
Published in Bipolar disorders (01.06.2015)
Published in Bipolar disorders (01.06.2015)
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Chromosome substitution strain assessment of a Huntington’s disease modifier locus
Ramos, Eliana Marisa, Kovalenko, Marina, Guide, Jolene R., St. Claire, Jason, Gillis, Tammy, Mysore, Jayalakshmi S., Sequeiros, Jorge, Wheeler, Vanessa C., Alonso, Isabel, MacDonald, Marcy E.
Published in Mammalian genome (01.04.2015)
Published in Mammalian genome (01.04.2015)
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Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease
Ramos, Eliana Marisa, Gillis, Tammy, Mysore, Jayalakshmi S., Lee, Jong-Min, Gögele, Martin, D'Elia, Yuri, Pichler, Irene, Sequeiros, Jorge, Pramstaller, Peter P., Gusella, James F., MacDonald, Marcy E., Alonso, Isabel
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.03.2015)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.03.2015)
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Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset
Ramos, Eliana Marisa, Latourelle, Jeanne C., Lee, Ji-Hyun, Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., MacDonald, Marcy E.
Published in Human genetics (01.12.2012)
Published in Human genetics (01.12.2012)
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TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington’s disease
Lee, Ji-Hyun, Lee, Jong-Min, Ramos, Eliana Marisa, Gillis, Tammy, Mysore, Jayalakshmi S., Kishikawa, Shotaro, Hadzi, Tiffany, Hendricks, Audrey E., Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Squitieri, Ferdinando, Gellera, Cinzia, Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge, Bernhard Landwehrmeyer, G., Shoulson, Ira, Myers, Richard H., MacDonald, Marcy E., Gusella, James F.
Published in Biochemical and biophysical research communications (03.08.2012)
Published in Biochemical and biophysical research communications (03.08.2012)
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