James F. Gusella
1976–2025 年に発表
- 259
- 論文数
- 65,443
- 被引用数
- 133
- h 指数
- 258
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Medicine39.2%
- Biochemistry, Genetics and Molecular Biology30.8%
- Neuroscience24.3%
- Nursing2.4%
- Immunology and Microbiology0.8%
- Agricultural and Biological Sciences0.7%
- その他1.8%
トピック
- Genetic Neurodegenerative Diseases6%
- Alzheimer's disease research and treatments5%
- Mitochondrial Function and Pathology3.5%
- Genetics and Neurodevelopmental Disorders2.6%
- Neurological disorders and treatments2.5%
- Genomic variations and chromosomal abnormalities2.1%
- その他78.3%
共著者
- Marcy E. MacDonald78
- Richard H. Myers28
- Jonathan L. Haines26
- Michael E. Talkowski26
- Diane Lucente25
- Jong‐Min Lee24
- Rudolph E. Tanzi24
- Vanessa C. Wheeler22
- Tammy Gillis20
- Vijaya Ramesh20
- Yiping Shen16
- Jayalakshmi Srinidhi Mysore14
- Jean‐Paul Vonsattel14
- Laurie J. Ozelius13
- Peter St George‐Hyslop13
- Serkan Erdin13
- Cynthia C. Morton12
- Seung Kwak12
- Ihn Sik Seong11
- Jeffrey D. Long11
- Lesley Jones11
- Michael Orth11
- Peter Holmans11
- Bernd R. Seizinger10
全論文
- Huntington disease
著者: Gillian P. Bates, Ray Dorsey, James F. Gusella, Michael R. Hayden, Chris Kay, Blair R. Leavitt, Martha Nance, Christopher A. Ross, Rachael I. Scahill, Ronald Wetzel, Edward J. Wild, Sarah J. Tabrizi - Nature Reviews Disease Primers 2015 被引用: 1,577
- CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset
著者: Jong‐Min Lee, Kevin Correia, Jacob M. Loupe, Kyung‐Hee Kim, Douglas Barker, Eun Pyo Hong, Michael J. Chao, Jeffrey D. Long, Diane Lucente, Jean Paul Vonsattel, Ricardo Mouro Pinto, Kawther Abu Elneel, Eliana Marisa Ramos, Jayalakshmi Srinidhi Mysore, Tammy Gillis, Vanessa C. Wheeler, Marcy E. MacDonald, James F. Gusella, Branduff McAllister, Thomas H. Massey, Christopher Medway, Timothy Stone, Lynsey S. Hall, Lesley Jones, Peter Holmans, Seung Kwak, Anka G Ehrhardt, Cristina Sampaio, Marc Ciosi, Alastair Maxwell, Afroditi Chatzi, Darren G. Monckton, Michael Orth, G. Bernhard Landwehrmeyer, Jane S. Paulsen, E. Ray Dorsey, Ira Shoulson, Richard H. Myers - Cell 2019 被引用: 576
- A cross-disorder dosage sensitivity map of the human genome
著者: Ryan L. Collins, Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella, Lide Han, Theodore Morley, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Selin Everett, Daniel P. Howrigan, Philip M. Boone, Jack Fu, Konrad J. Karczewski, Georgios Kellaris, Chelsea Lowther, Diane Lucente, Kiana Mohajeri, Margit Nõukas, Xander Nuttle, Kaitlin E. Samocha, Mi K. Trinh, Farid Ullah, Urmo Võsa, Andres Metspalu, Reedik Mägi, Mari Nelis, Lili Milani, Tõnu Esko, Matthew E. Hurles, Swaroop Aradhya, Erica E. Davis, Hilary K. Finucane, James F. Gusella, Aura Janze, Nicholas Katsanis, Ludmila Matyakhina, Benjamin M. Neale, D. B. Sanders, Stephanie Warren, Jennelle C. Hodge, Dennis Lal, Douglas M. Ruderfer, Jeanne Meck, Reedik Mägi, Tõnu Esko, Alexandre Reymond, Zoltán Kutalik, Håkon Håkonarson, Shamil Sunyaev, Harrison Brand, Michael E. Talkowski - Cell 2022 被引用: 371
- Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
著者: Jong‐Min Lee, Vanessa C. Wheeler, Michael J. Chao, Jean Paul Vonsattel, Ricardo Mouro Pinto, Diane Lucente, Kawther Abu-Elneel, Eliana Marisa Ramos, Jayalakshmi Srinidhi Mysore, Tammy Gillis, Marcy E. MacDonald, James F. Gusella, Denise Harold, Timothy Stone, Valentina Escott‐Price, Jun Han, Alexey Vedernikov, Peter Holmans, Lesley Jones, Seung Kwak, Mithra Mahmoudi, Michael Orth, G. Bernhard Landwehrmeyer, Jane S. Paulsen, E. Ray Dorsey, Ira Shoulson, Richard H. Myers - Cell 2015 被引用: 684
- Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease
著者: Ann M. Saunders, Warren J. Strittmatter, D. E. Schmechel, Peter St George‐Hyslop, Jeffery M. Vance, Sun Hyung Joo, B.L. Rosi, James F. Gusella, D. R. Crapper-MacLachlan, Mark J. Alberts, Christine Hulette, Barbara J. Crain, Dmitry Goldgaber, Allen D. Roses - Neurology 1993 被引用: 3,808
- The GPR54 Gene as a Regulator of Puberty
著者: Stephanie B. Seminara, Sophie Messager, Emmanouella E. Chatzidaki, Rosemary R. Thresher, James S. Acierno, Jenna K. Shagoury, Yøusef Bo-Abbas, Wendy Kuohung, Kristine M. Schwinof, Alan G. Hendrick, Dirk Zahn, John Dixon, Ursula B. Kaiser, Susan A. Slaugenhaupt, James F. Gusella, Stephen O’Rahilly, Mark Carlton, William F. Crowley, Samuel Aparício, William H Colledge - New England Journal of Medicine 2003 被引用: 2,540
- Huntington’s Disease Pathogenesis: Two Sequential Components
著者: Eun Pyo Hong, Marcy E. MacDonald, Vanessa C. Wheeler, Lesley Jones, Peter Holmans, Michael Orth, Darren G. Monckton, Jeffrey D. Long, Seung Kwak, James F. Gusella, Jong‐Min Lee - Journal of Huntington s Disease 2021 被引用: 111
- Genetic modifiers of Huntington disease differentially influence motor and cognitive domains
著者: Jong‐Min Lee, Yuan Huang, Michael Orth, Tammy Gillis, Jacqueline Siciliano, Eunpyo Hong, Jayalakshmi Srinidhi Mysore, Diane Lucente, Vanessa C. Wheeler, Ihn Sik Seong, Zachariah L. McLean, James A. Mills, Branduff McAllister, S. V. Lobanov, Thomas H. Massey, Marc Ciosi, G. Bernhard Landwehrmeyer, Jane S. Paulsen, E. Ray Dorsey, Ira Shoulson, Cristina Sampaio, Darren G. Monckton, Seung Kwak, Peter Holmans, Lesley Jones, Marcy E. MacDonald, Jeffrey D. Long, James F. Gusella - The American Journal of Human Genetics 2022 被引用: 116
- Trinucleotide repeat length instability and age of onset in Huntington's disease
著者: Mabel P. Duyao, C M Ambrose, Richard H. Myers, Andrea Novelletto, Francesca Persichetti, Marina Frontali, Susan E. Folstein, Christopher A. Ross, Mary L. Franz, M Abbott, J. Gray, P.M. Conneally, A. B. Young, John B. Penney, Zane Hollingsworth, Ira Shoulson, Alice Lazzarini, Arthur Falek, Walter J. Koroshetz, Daniel S. Sax, Edward J. Bird, Jean Paul Vonsattel, E. Bonilla, José Alvir, Jaime Conde, Jeong‐Heon Cha, Leon Dure, F. Gomez, María Ramos, Juan Sanchez‐Ramos, S. Robert Snodgrass, Margot de Young, Nancy S. Wexler, Chaya Moscowitz, Graciela K. Penchaszadeh, H MacFarlane, Mark J. Anderson, Bruce G. Jenkins, Jayalakshmi Srinidhi, Glenn Barnes, James F. Gusella, Marcy E. MacDonald - Nature Genetics 1993 被引用: 1,099
- A novel approach to investigate tissue-specific trinucleotide repeat instability
著者: Jong-Min Lee, Jie Zhang, Andrew I. Su, John R. Walker, Tim Wiltshire, Kihwa Kang, Ella Dragileva, Tammy Gillis, Edith T. Lopez, Marie-Josee Boily, Michel Cyr, Isaac S. Kohane, James F. Gusella, Marcy E. MacDonald, Vanessa C. Wheeler - BMC Systems Biology, BMC Syst. Biol. 2010 被引用: 152
- Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9
著者: Jun Wan Shin, Kyung‐Hee Kim, Michael J. Chao, Ranjit Singh Atwal, Tammy Gillis, Marcy E. MacDonald, James F. Gusella, Jong‐Min Lee - Human Molecular Genetics 2016 被引用: 273
- Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset
著者: Branduff McAllister, Jasmine Donaldson, Caroline S. Binda, Sophie Powell, Uroosa Chughtai, Gareth Edwards, Joseph Stone, S. V. Lobanov, Linda Elliston, Laura-Nadine Schuhmacher, Elliott Rees, Georgina Menzies, Marc Ciosi, Alastair Maxwell, Michael J. Chao, Eun Pyo Hong, Diane Lucente, Vanessa C. Wheeler, Jong‐Min Lee, Marcy E. MacDonald, Jeffrey D. Long, Elizabeth Aylward, G. Bernhard Landwehrmeyer, Anne Rosser, REGISTRY Investigators of the European Huntington’s disease network, Jane S. Paulsen, PREDICT-HD Investigators of the Huntington Study Group, Nigel Williams, James F. Gusella, Darren G. Monckton, Nicholas D. Allen, Peter Holmans, Lesley Jones, Thomas H. Massey - Nature Neuroscience 2022 被引用: 89
- Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out
著者: Jacob M. Loupe, Ricardo Mouro Pinto, Kyung‐Hee Kim, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Marissa A Andrew, Marina Kovalenko, Ryan Murtha, Ihnsik Seong, James F. Gusella, Seung Kwak, David Howland, Ramee Lee, Jong‐Min Lee, Vanessa C. Wheeler, Marcy E. MacDonald - Human Molecular Genetics 2020 被引用: 90
- A polymorphic DNA marker genetically linked to Huntington's disease
著者: James F. Gusella, Nancy S. Wexler, P. Michael Conneally, Susan L. Naylor, Mary Anne Anderson, Rudolph E. Tanzi, Paul C. Watkins, Kathleen Ottina, Margaret R. Wallace, Alan Y. Sakaguchi, Anne B. Young, Ira Shoulson, Ernesto Bonilla, Joseph B. Martin - Nature 1983 被引用: 2,347
- CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
著者: Aarathi Sugathan, Marta Biagioli, Christelle Golzio, Serkan Erdin, Ian Blumenthal, Poornima Manavalan, Ashok Ragavendran, Harrison Brand, Diane Lucente, Judith H. Miles, Steven D. Sheridan, Alexei Stortchevoi, Manolis Kellis, Stephen J. Haggarty, Nicholas Katsanis, James F. Gusella, Michael E. Talkowski - National Academy of Sciences, Proceedings of the National Academy of Sciences 2014 被引用: 353
- CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
著者: J.-M. Lee, E.M. Ramos, J.-H. Lee, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Michael R. Hayden, Simon C. Warby, PJ Morrison, Martha Nance, Christopher A. Ross, Russell L. Margolis, Ferdinando Squitieri, S. Orobello, Stefano Di Donato, Estrella Gómez‐Tortosa, Carmen Ayuso, Oksana Suchowersky, R J Trent, Elizabeth McCusker, Andrea Novelletto, Marina Frontali, Randi Jones, Tetsuo Ashizawa, Samuel Frank, Marie Saint‐Hilaire, Steven M. Hersch, H. Diana Rosas, Diane Lucente, Madeline Harrison, Andrea Zanko, Ruth K. Abramson, Karen Marder, Jorge Sequeiros, Jane S. Paulsen, G. Bernhard Landwehrmeyer, Richard H. Myers, Marcy E. MacDonald, James F. Gusella, Alexandra Dürr, Adam Rosenblatt, Luigi Frati, Susan B. Perlman, P. M. Conneally, Mary Lou Klimek, Melissa Diggin, Tiffany C. Hadzi, Ayana Duckett, Anwar Ahmed, Paul Allen, David Ames, Christine Anderson, Karla J. Anderson, Karen Anderson, Thomasin Andrews, John Ashburner, Eric Axelson, Elizabeth Aylward, Roger A. Barker, Katrin Barth, Stacey K. Barton, Kathleen Baynes, Alexandra Bea, Erik B. Beall, Mirza Faisal Beg, Leigh J. Beglinger, Kevin Biglan, K. Björk, Steve Blanchard, Jeremy Bockholt, Sudharshan Reddy Bommu, Bradley G. Brossman, Maggie Burrows, Vince D. Calhoun, Noelle E. Carlozzi, Amy M. Chesire, Edmond Chiu, Phyllis Chua, R.J. Connell, Carmela Connor, Jody Corey‐Bloom, David Craufurd, Stephen Cross, Lucette A. Cysique, Rachelle Dar Santos, Jennifer Davis, Joji Decolongon, A. Dipietro, Nicholas Doucette, Nancy R. Downing, Ann Dudler, Steve Dunn, Daniel Ecker, Eric A. Epping, Diane Erickson, Cheryl Erwin, Kenneth Evans, Stewart A. Factor, Sarah Tomaszewski Farias, Marta Fatas, Jess G. Fiedorowicz ほか 611 名 - Neurology 2012 被引用: 391
- Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
著者: Lam Son Nguyen, Hyung‐Goo Kim, Jill A. Rosenfeld, Yiping Shen, James F. Gusella, Yves Lacassie, Lawrence C. Layman, Lisa G. Shaffer, Jozef Gécz - Human Molecular Genetics 2013 被引用: 166
- Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects
著者: Kyung‐Hee Kim, Eun Pyo Hong, Jun Wan Shin, Michael J. Chao, Jacob M. Loupe, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Peter Holmans, Lesley Jones, Michael Orth, Darren G. Monckton, Jeffrey D. Long, Seung Kwak, Ramee Lee, James F. Gusella, Marcy E. MacDonald, Jong‐Min Lee - The American Journal of Human Genetics 2020 被引用: 74
- A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes
著者: Ping‐Chieh Pao, Jinsoo Seo, Audrey Lee, Oleg Kritskiy, Debasis Patnaik, Jay Penney, Ravikiran M. Raju, Ute Geigenmuller, M. Catarina Silva, Diane Lucente, James F. Gusella, Bradford C. Dickerson, Anjanet Loon, Margaret X. Yu, Michael Bula, Melody Yu, Stephen J. Haggarty, Li‐Huei Tsai - National Academy of Sciences, Proceedings of the National Academy of Sciences 2023 被引用: 59
- Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
著者: Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang, Adrian Heilbut, Carl Ernst, Carrie Hanscom, Elizabeth J. Rossin, Amelia M. Lindgren, Shahrin Pereira, Douglas M. Ruderfer, Andrew Kirby, Stephan Ripke, David J. Harris, Ji‐Hyun Lee, Kyungsoo Ha, Hyung‐Goo Kim, Benjamin D. Solomon, Andrea Gropman, Diane Lucente, Katherine B. Sims, Toshiro K. Ohsumi, Mark L. Borowsky, Stephanie Loranger, Bradley J. Quade, Kasper Lage, Judith H. Miles, Bai-Lin Wu, Yiping Shen, Benjamin M. Neale, Lisa G. Shaffer, Mark J. Daly, Cynthia C. Morton, James F. Gusella - Cell 2012 被引用: 604
- The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
著者: Rudolph E. Tanzi, Konstantin Petrukhin, И. П. Чернов, Jean‐Luc Pellequer, Wilma Wasco, B. Ross, Donna Romano, Enrico Parano, Piero Pavone, Linda M. Brzustowicz, Marcella Devoto, Jeffrey Peppercorn, Ashley I. Bush, Irmin Sternlieb, Mario Pirastu, James F. Gusella, Oleg V. Evgrafov, Graciela K. Penchaszadeh, Barry Honig, I. S. Edelman, MA Soares, I. Herbert Scheinberg, T. Conrad Gilliam - Nature Genetics 1993 被引用: 1,382
- Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat
著者: Zachariah L. McLean, Dadi Gao, Kevin Correia, Jennie C. L. Roy, Shota Shibata, Iris N. Farnum, Zoe Valdepenas-Mellor, Marina Kovalenko, Manasa Rapuru, Elisabetta Morini, Jayla Ruliera, Tammy Gillis, Diane Lucente, Benjamin P. Kleinstiver, Jong‐Min Lee, Marcy E. MacDonald, Vanessa C. Wheeler, Ricardo Mouro Pinto, James F. Gusella - Nature Communications 2024 被引用: 41
- KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
著者: Christelle Golzio, Jason R. Willer, Michael E. Talkowski, Edwin C. Oh, Yu Taniguchi, Sébastien Jacquemont, Alexandre Reymond, Mei Sun, Akira Sawa, James F. Gusella, Atsushi Kamiya, J. Beckmann, Nicholas Katsanis - Nature 2012 被引用: 438
- Prediction of cognition in Parkinson's disease with a clinical–genetic score: a longitudinal analysis of nine cohorts
著者: Ganqiang Liu, Joseph J. Locascio, Jean‐Christophe Corvol, Brendon Boot, Zhixiang Liao, Kara Page, Daly Franco, Kyle Burke, Iris E. Jansen, Ana Trisini‐Lipsanopoulos, Sophie Winder‐Rhodes, Caroline M. Tanner, Anthony E. Lang, Shirley Eberly, Alexis Elbaz, Alexis Brice, Graziella Mangone, Bernard Ravina, Ira Shoulson, Florence Cormier‐Dequaire, Peter Heutink, Jacobus J. van Hilten, Roger A. Barker, Caroline H. Williams‐Gray, Johan Marinus, Clemens R. Scherzer, Clemens R. Scherzer, Bradley T. Hyman, Adrian J. Ivinson, Ana Trisini‐Lipsanopoulos, Daly Franco, Kyle Burke, Lewis Sudarsky, Michael T. Hayes, Chizoba C. Umeh, Reisa Sperling, John H. Growdon, Michael A. Schwarzschild, Albert Y. Hung, Alice W. Flaherty, Deborah Blacker, Anne‐Marie Wills, U. Shivraj Sohur, Nicte I. Mejia, Anand Viswanathan, Stephen N. Gomperts, Vikram Khurana, Mark W. Albers, Maria B. Alora-Palli, Scott McGinnis, Nutan Sharma, Bradford Dickerson, Matthew P. Frosch, Teresa Gómez‐Isla, Steven Greenberg, James F. Gusella, Trey Hedden, E. Tessa Hedley‐Whyte, Aaron B. Koenig, Marta Marquis-Sayagues, Gad Marshall, Olivia I. Okereke, Anat Stemmer-Rachaminov, Jessica Kloppenburg, Michael G. Schlossmacher, John H. Growdon, Dennis J. Selkoe, Reisa Sperling, Thomas Yi, Joseph J. Locascio, Haining Li, Gabriel Stalberg, Zhixiang Liao, Roger A. Barker, Tom Foltynie, Caroline Williams-Gray, Trevor W. Robbins, Carol Brayne, Sarah Mason, Sophie Winder-Rhodes, Roger A. Barker, Caroline Williams-Gray, David P. Breen, Gemma Cummins, Jonathan Evans, Sophie Winder-Rhodes, Jacobus J. van Hilten, Johan Marinus, Jean-Christophe Corvol, Alexis Brice, Jean-Christophe Corvol, Alexis Elbaz, Alain Mallet, Marie Vidailhet, Anne-Marie Bonnet, Cécilia Bonnet, Jean-Christophe Corvol, Alexis Elbaz, David Grabli, Andréas Hartmann ほか 31 名 - The Lancet Neurology 2017 被引用: 189
