Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver

Tekijä Lee, Jong-Min, Pinto, Ricardo Mouro, Gillis, Tammy, St. Claire, Jason C., Wheeler, Vanessa C.
Julkaistu 2011

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

Tekijä Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D
Julkaisussa Eur J Hum Genet (2016)

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

Tekijä Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D
Julkaisussa Eur J Hum Genet (2016)

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

Tekijä Swami, Meera, Hendricks, Audrey E., Gillis, Tammy, Massood, Tiffany, Mysore, Jayalakshmi, Myers, Richard H., Wheeler, Vanessa C.
Julkaistu 2009

Genetic analysis of the GRIK2 modifier effect in Huntington's disease

Tekijä Zeng, Wenqi, Gillis, Tammy, Hakky, Michael, Djoussé, Luc, Myers, Richard H, MacDonald, Marcy E, Gusella, James F
Julkaistu 2006

Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3

Tekijä Zeng, Wen-Qi , Al-Yamani, Eiman , Acierno, Jr., James S. , Slaugenhaupt, Susan , Gillis, Tammy , MacDonald, Marcy E. , Ozand, Pinar T. , Gusella, James F. 
Julkaistu 2005

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9

Tekijä Shin, Jun Wan, Kim, Kyung-Hee, Chao, Michael J., Atwal, Ranjit S., Gillis, Tammy, MacDonald, Marcy E., Gusella, James F., Lee, Jong-Min
Julkaisussa Hum Mol Genet (2016)

Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington’s Disease Knock-In Mice

Tekijä Neto, João Luís, Lee, Jong-Min, Afridi, Ali, Gillis, Tammy, Guide, Jolene R., Dempsey, Stephani, Lager, Brenda, Alonso, Isabel, Wheeler, Vanessa C., Pinto, Ricardo Mouro
Julkaisussa Genetics (2017)

Chromosome substitution strain assessment of a Huntington’s disease modifier locus

Tekijä 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.
Julkaisussa Mamm Genome (2015)

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

Tekijä Dragileva, Ella, Hendricks, Audrey, Teed, Allison, Gillis, Tammy, Lopez, Edith T, Friedberg, Errol C, Kucherlapati, Raju, Edelmann, Winfried, Lunetta, Kathryn L, MacDonald, Marcy E, Wheeler, Vanessa C
Julkaistu 2008

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase

Tekijä 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.
Julkaisussa Am J Hum Genet (2018)

Msh2 Acts in Medium-Spiny Striatal Neurons as an Enhancer of CAG Instability and Mutant Huntingtin Phenotypes in Huntington’s Disease Knock-In Mice

Tekijä Kovalenko, Marina, Dragileva, Ella, St. Claire, Jason, Gillis, Tammy, Guide, Jolene R., New, Jaclyn, Dong, Hualing, Kucherlapati, Raju, Kucherlapati, Melanie H., Ehrlich, Michelle E., Lee, Jong-Min, Wheeler, Vanessa C.
Julkaistu 2012

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

Tekijä 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
Julkaisussa Am J Med Genet B Neuropsychiatr Genet (2015)

Assessment of cortical and striatal involvement in 523 Huntington disease brains

Tekijä 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
Julkaistu 2012

A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths

Tekijä Hung, Claudia Lin-Kar, Maiuri, Tamara, Bowie, Laura Erin, Gotesman, Ryan, Son, Susie, Falcone, Mina, Giordano, James Victor, Gillis, Tammy, Mattis, Virginia, Lau, Trevor, Kwan, Vickie, Wheeler, Vanessa, Schertzer, Jonathan, Singh, Karun, Truant, Ray
Julkaisussa Mol Biol Cell (2018)

A modifier of Huntington's disease onset at the MLH1 locus

Tekijä 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.
Julkaisussa Hum Mol Genet (2017)

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

Tekijä 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
Julkaisussa Am J Hum Genet (2016)

A novel approach to investigate tissue-specific trinucleotide repeat instability

Tekijä Lee, Jong-Min, Zhang, Jie, Su, Andrew I, Walker, John R, Wiltshire, Tim, Kang, Kihwa, Dragileva, Ella, Gillis, Tammy, Lopez, Edith T, Boily, Marie-Josee, Cyr, Michel, Kohane, Isaac, Gusella, James F, MacDonald, Marcy E, Wheeler, Vanessa C
Julkaistu 2010

Haplotype-based stratification of Huntington's disease

Tekijä Chao, Michael J, Gillis, Tammy, Atwal, Ranjit S, Mysore, Jayalakshmi Srinidhi, Arjomand, Jamshid, Harold, Denise, Holmans, Peter, Jones, Lesley, Orth, Michael, Myers, Richard H, Kwak, Seung, Wheeler, Vanessa C, MacDonald, Marcy E, Gusella, James F, Lee, Jong-Min
Julkaisussa Eur J Hum Genet (2017)

Htt(Q111/+) Huntington’s Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction

Tekijä Kovalenko, Marina, Milnerwood, Austen, Giordano, James, St. Claire, Jason, Guide, Jolene R., Stromberg, Mary, Gillis, Tammy, Sapp, Ellen, DiFiglia, Marian, MacDonald, Marcy E., Carroll, Jeffrey B., Lee, Jong-Min, Tappan, Susan, Raymond, Lynn, Wheeler, Vanessa C.
Julkaisussa J Huntingtons Dis (2018)