Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries

Authors: Nuttle, Xander, Burt, Nicholas D., Currall, Benjamin, Moysés-Oliveira, Mariana, Mohajeri, Kiana, Bhavsar, Riya, Lucente, Diane, Yadav, Rachita, Tai, Derek J.C., Gusella, James F., Talkowski, Michael E.

Source: In Cell Reports Methods 22 January 2024 4(1)

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

Authors: Mohajeri, Kiana, Yadav, Rachita, D'haene, Eva, Boone, Philip M., Erdin, Serkan, Gao, Dadi, Moyses-Oliveira, Mariana, Bhavsar, Riya, Currall, Benjamin B., O'Keefe, Kathryn, Burt, Nicholas D., Lowther, Chelsea, Lucente, Diane, Salani, Monica, Larson, Mathew, Redin, Claire, Dudchenko, Olga, Aiden, Erez Lieberman, Menten, Björn, Tai, Derek J.C., Gusella, James F., Vergult, Sarah, Talkowski, Michael E.

Source: In The American Journal of Human Genetics 3 November 2022 109(11):2049-2067

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

Authors: Tai, Derek J.C., Razaz, Parisa, Erdin, Serkan, Gao, Dadi, Wang, Jennifer, Nuttle, Xander, de Esch, Celine E., Collins, Ryan L., Currall, Benjamin B., O’Keefe, Kathryn, Burt, Nicholas D., Yadav, Rachita, Wang, Lily, Mohajeri, Kiana, Aneichyk, Tatsiana, Ragavendran, Ashok, Stortchevoi, Alexei, Morini, Elisabetta, Ma, Weiyuan, Lucente, Diane, Hastie, Alex, Kelleher, Raymond J., Perlis, Roy H., Talkowski, Michael E., Gusella, James F.

Source: In The American Journal of Human Genetics 6 October 2022 109(10):1789-1813

Genetic modifiers of Huntington disease differentially influence motor and cognitive domains

Authors: 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.

Source: American journal of human genetics. 109(5):885-899

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163384448.0x000001&indx=1&recIds=ETOCvdc_100163384448.0x000001

A cross-disorder dosage sensitivity map of the human genome

Authors: Metspalu, Andres, Mägi, Reedik, Nelis, Mari, Milani, Lili, Esko, Tõnu, 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, 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, Reymond, Alexandre, Kutalik, Zoltán, Hakonarson, Hakon, Sunyaev, Shamil, Brand, Harrison, Talkowski, Michael E.

Source: In Cell 4 August 2022 185(16):3041-3055

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin

Authors: Domingo, Aloysius, Yadav, Rachita, Shah, Shivangi, Hendriks, William T., Erdin, Serkan, Gao, Dadi, O’Keefe, Kathryn, Currall, Benjamin, Gusella, James F., Sharma, Nutan, Ozelius, Laurie J., Ehrlich, Michelle E., Talkowski, Michael E., Bragg, D. Cristopher

Source: In The American Journal of Human Genetics 4 November 2021 108(11):2145-2158

CNV profiles of Chinese pediatric patients with developmental disorders

Authors: Yuan, Haiming, Shangguan, Shaofang, Li, Zhengchang, Luo, Jingsi, Su, Jiasun, Yao, Ruen, Zhang, Shun, Liang, Chen, Chen, Qian, Gao, Zhijie, Zhu, Yanli, Zhang, Shujie, Li, Wei, Lu, Weiliang, Zhang, Yu, Xie, Hua, Liu, Fang, Wang, Qingming, Lin, Yangyang, Liu, Liying, Wang, Xiuming, Liang, Liyang, Zhong, Jianmin, Li, Haibo, Qiu, Haiyan, Zhang, Huifeng, Yan, Mei, Mireguli, Maimaiti, Liu, Yanhui, Zhang, Dan, Wang, Hongying, Lv, Haitao, Xie, Bobo, Gui, Chunrong, Cui, Xiaodai, Zou, Liping, Wang, Jian, Gusella, James F., Shen, Yiping, Chen, Xiaoli

Source: In Genetics in Medicine April 2021 23(4):669-678

mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition

Authors: Beauchamp, Roberta L., Erdin, Serkan, Witt, Luke, Jordan, Justin T., Plotkin, Scott R., Gusella, James F., Ramesh, Vijaya

Source: In Journal of Biological Chemistry January-June 2021 296

Huntington's disease: nearly four decades of human molecular genetics

Authors: Gusella, James F, Lee, Jong-Min, MacDonald, Marcy E

Source: Human molecular genetics. 30(R2):R254-R263

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131741334.0x000001&indx=1&recIds=ETOCvdc_100131741334.0x000001

Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs

Authors: 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

Source: Human molecular genetics. 30(3-4):135-148

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128201789.0x000001&indx=1&recIds=ETOCvdc_100128201789.0x000001

Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects

Authors: 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

Source: In The American Journal of Human Genetics 2 July 2020 107(1):96-110

Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease

Authors: Ellis, Natalie, Tee, Amelia, McAllister, Branduff, Massey, Thomas, McLauchlan, Duncan, Stone, Timothy, Correia, Kevin, Loupe, Jacob, Kim, Kyung-Hee, Barker, Douglas, Hong, Eun Pyo, Chao, Michael J., Long, Jeffrey D., Lucente, Diane, Vonsattel, Jean Paul G., Pinto, Ricardo Mouro, Elneel, Kawther Abu, Ramos, Eliana Marisa, Mysore, Jayalakshmi Srinidhi, Gillis, Tammy, Wheeler, Vanessa C., Medway, Christopher, Hall, Lynsey, Kwak, Seung, Sampaio, Cristina, Ciosi, Marc, Maxwell, Alastair, Chatzi, Afroditi, Monckton, Darren G., Orth, Michael, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Shoulson, Ira, Myers, Richard H., van Duijn, Erik, Rickards, Hugh, MacDonald, Marcy E., Lee, Jong-min, Gusella, James F., Jones, Lesley, Holmans, Peter

Source: In Biological Psychiatry 1 May 2020 87(9):857-865

Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration

Authors: Lee, Jong-Min, MacDonald, Marcy E., Gusella, James F.

Source: American journal of human genetics. 109(7):1338-1340

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100167273203.0x000001&indx=1&recIds=ETOCvdc_100167273203.0x000001

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

Authors: Lee, Jong-Min, Correia, Kevin, Loupe, Jacob, Kim, Kyung-Hee, Barker, Douglas, Hong, Eun Pyo, Chao, Michael J., Long, Jeffrey D., Lucente, Diane, Vonsattel, Jean Paul G., Pinto, Ricardo Mouro, Abu Elneel, Kawther, Ramos, Eliana Marisa, Mysore, Jayalakshmi Srinidhi, Gillis, Tammy, Wheeler, Vanessa C., MacDonald, Marcy E., Gusella, James F., McAllister, Branduff, Massey, Thomas, Medway, Christopher, Stone, Timothy C., Hall, Lynsey, Jones, Lesley, Holmans, Peter, Kwak, Seung, Ehrhardt, Anka G., Sampaio, Cristina, Ciosi, Marc, Maxwell, Alastair, Chatzi, Afroditi, Monckton, Darren G., Orth, Michael, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Dorsey, E. Ray, Shoulson, Ira, Myers, Richard H.

Source: In Cell 8 August 2019 178(4):887-900

De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth

Authors: An, Yu, Zhang, Linna, Liu, Wenwen, Jiang, Yunyun, Chen, Xue, Lan, Xiaoping, Li, Gan, Hang, Qiang, Wang, Jian, Gusella, James F., Du, Yasong, Shen, Yiping

Source: Human genetics. 139(4):499-512

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164377055.0x000001&indx=1&recIds=ETOCvdc_100164377055.0x000001

Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model.

Authors: Jiang, Andrew, You, Linya, Handley, Renee R, Hawkins, Victoria, Reid, Suzanne J, Jacobsen, Jessie C, Patassini, Stefano, Rudiger, Skye R, Mclaughlan, Clive J, Kelly, Jennifer M, Verma, Paul J, Bawden, C Simon, Gusella, James F, MacDonald, Marcy E, Waldvogel, Henry J, Faull, Richard L M, Lehnert, Klaus, Snell, Russell G

Source: Human Molecular Genetics; 9/1/2024, Vol. 33 Issue 17, p1524-1539, 16p

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase

Authors: 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.

Source: In The American Journal of Human Genetics 6 September 2018 103(3):349-357

Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma

Authors: Akgül, Seçkin, Li, Yinghua, Zheng, Siyuan, Kool, Marcel, Treisman, Daniel M., Li, Chaoyang, Wang, Yuan, Gröbner, Susanne, Ikenoue, Tsuneo, Shen, Yiping, Camelo-Piragua, Sandra, Tomasek, Gerald, Stark, Sebastian, Guduguntla, Vinay, Gusella, James F., Guan, Kun-Liang, Pfister, Stefan M., Verhaak, Roel G.W., Zhu, Yuan

Source: In Cell Reports 10 July 2018 24(2):463-478

A cross-disorder dosage sensitivity map of the human genome

Authors: 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, 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.

Source: Cell. 185(16):3041-3055.e25

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188115406.0x000001&indx=1&recIds=ETOCvdc_100188115406.0x000001

Brain urea increase is an early Huntington’s disease pathogenic event observed in a prodromal transgenic sheep model and HD cases

Authors: Handley, Renee R., Reid, Suzanne J., Brauning, Rudiger, Maclean, Paul, Mears, Emily R., Fourie, Imche, Patassini, Stefano, Cooper, Garth J. S., Rudiger, Skye R., McLaughlan, Clive J., Verma, Paul J., Gusella, James F., MacDonald, Marcy E., Waldvogel, Henry J., Bawden, C. Simon, Faull, Richard L. M., Snell, Russell G.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2017 Dec . 114(52), E11293-E11302.

Access URL: https://www.jstor.org/stable/26488813