James R. Lupski
1982–2025 年に発表
- 別表記
- James R Lupski
- 449
- 論文数
- 81,260
- 被引用数
- 152
- h 指数
- 437
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology62.2%
- Medicine19.7%
- Neuroscience8%
- Immunology and Microbiology4.3%
- Agricultural and Biological Sciences3.1%
- Environmental Science0.6%
- その他2.1%
トピック
- Genomics and Rare Diseases5.8%
- Genomic variations and chromosomal abnormalities5.7%
- Genetics and Neurodevelopmental Disorders2.8%
- Genomics and Phylogenetic Studies2.3%
- Chromosomal and Genetic Variations2.2%
- Congenital heart defects research1.8%
- その他79.4%
共著者
- Shalini N. Jhangiani96
- Richard A. Gibbs85
- Zeynep Coban‐Akdemir76
- Donna M. Muzny74
- Jennifer E. Posey73
- Paweł Stankiewicz54
- Davut Pehli̇van50
- Claudia M.B. Carvalho44
- Pengfei Liu44
- Jill A. Rosenfeld39
- Chad A. Shaw38
- Tomasz Gambin36
- Weimin Bi36
- Richard A. Lewis34
- Sau Wai Cheung34
- Ankita Patel31
- Ender Karaca30
- Bo Yuan28
- Carlos A. Bacino27
- Jawid M. Fatih27
- Arthur L. Beaudet26
- Haowei Du26
- Tadahiro Mitani24
- Seema R. Lalani23
全論文
- TLR7 gain-of-function genetic variation causes human lupus
著者: Grant J. Brown, Pablo F. Cañete, Hao Wang, Arti Medhavy, Josiah Bones, Jonathan A. Roco, Yuke He, Yuting Qin, Jean Cappello, Julia I. Ellyard, Katharine Bassett, Qian Shen, Gaétan Burgio, Yaoyuan Zhang, Cynthia Turnbull, Xiangpeng Meng, Phil Wu, Eun Cho, Lisa A. Miosge, T. Daniel Andrews, Matthew A. Field, Denis Tvorogov, Angel F. López, Jeffrey J. Babon, Cristina Aparicio López, África González‐Murillo, Daniel Clemente, Virginia Pascual, Tess Levy, Eric J. Mallack, Daniel G. Calame, Timothy Lotze, James R. Lupski, Huihua Ding, Tomalika R. Ullah, Giles Walters, Mark E. Koina, Matthew Cook, Nan Shen, Carmen de Lucas Collantes, Ben Corry, Michael P. Gantier, Vicki Athanasopoulos, Carola G. Vinuesa - Nature 2022 被引用: 590
- Non-coding genetic variants in human disease: Figure 1.
著者: Feng Zhang, James R. Lupski - Human Molecular Genetics 2015 被引用: 657
- Mechanisms underlying structural variant formation in genomic disorders
著者: Claudia M.B. Carvalho, James R. Lupski - Nature Reviews Genetics 2016 被引用: 820
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
著者: Yaping Yang, Donna M. Muzny, Jeffrey G. Reid, Matthew N. Bainbridge, Alecia Willis, Patricia A. Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu, Matthew T. Hardison, Richard Person, Mir Reza Bekheirnia, Magalie S. Leduc, Amelia Kirby, Peter Pham, Jennifer Scull, Min Wang, Yan Ding, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Christine M. Eng - New England Journal of Medicine 2013 被引用: 1,975
- Copy Number Variation in Human Health, Disease, and Evolution
著者: Feng Zhang, Wenli Gu, Matthew E. Hurles, James R. Lupski - Annual Review of Genomics and Human Genetics 2009 被引用: 1,247
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
著者: Jennifer E. Posey, Tamar Harel, Pengfei Liu, Jill A. Rosenfeld, Regis A. James, Zeynep H. Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding, Fan Xia, Arthur L. Beaudet, Donna M. Muzny, Richard A. Gibbs, Eric Boerwinkle, Christine M. Eng, V. Reid Sutton, Chad A. Shaw, Sharon E. Plon, Yaping Yang, James R. Lupski - New England Journal of Medicine 2016 被引用: 775
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
著者: Yaping Yang, Donna M. Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia A. Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie S. Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J. Craigen, Mir Reza Bekheirnia, Asbjørg Stray‐Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey G. Reid, Matthew N. Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L. Beaudet, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng - JAMA 2014 被引用: 1,401
- Mechanisms of change in gene copy number
著者: P. J. Hastings, James R. Lupski, Susan M. Rosenberg, Grzegorz Ira - Nature Reviews Genetics 2009 被引用: 1,340
- Reanalysis of Clinical Exome Sequencing Data
著者: Pengfei Liu, Linyan Meng, Elizabeth A. Normand, Fan Xia, Xiaofei Song, Andrew R. Ghazi, Jill A. Rosenfeld, Pilar Magoulas, Alicia Braxton, Patricia A. Ward, Hongzheng Dai, Bo Yuan, Weimin Bi, Rui Xiao, Xia Wang, Theodore Chiang, Francesco Vetrini, Weimin He, Hanyin Cheng, Jie Dong, Charul Gijavanekar, Paul J. Benke, Jonathan A. Bernstein, Tanya N. Eble, Yasemen Eroğlu, Deanna Erwin, Luis Escobar, James B. Gibson, Karen W. Gripp, Soledad Kleppe, Mary Kay Koenig, Andrea M. Lewis, Marvin R. Natowicz, Pedro Mancías, LaKeesha Minor, Fernando Scaglia, Christian P. Schaaf, Haley Streff, Hilary J. Vernon, Crescenda L Uhles, Elaine H. Zackai, Nan Wu, V. Reid Sutton, Arthur L. Beaudet, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Seema R. Lalani, Chad A. Shaw, Christine M. Eng, James R. Lupski, Yaping Yang - New England Journal of Medicine 2019 被引用: 298
- Structural Variation in the Human Genome and its Role in Disease
著者: Paweł Stankiewicz, James R. Lupski - Annual Review of Medicine 2010 被引用: 1,225
- A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy
著者: Rando Allikmets, Nanda Singh, Hui Sun, Noah F. Shroyer, Amy Hutchinson, Abirami Chidambaram, Bernard Gerrard, Lisa Baird, Dora Stauffer, Andy Peiffer, Amir Rattner, Philip M. Smallwood, Yixin Li, Kent L. Anderson, Richard A. Lewis, Jeremy Nathans, Mark Leppert, Michael Dean, James R. Lupski - Nature Genetics 1997 被引用: 1,437
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
著者: Jessica X. Chong, Kati J. Buckingham, Shalini N. Jhangiani, Corinne D. Boehm, Nara Sobreira, Joshua D. Smith, Tanya M. Harrell, Margaret J. McMillin, Wojciech Wiszniewski, Tomasz Gambin, Zeynep H. Coban Akdemir, Kimberly F. Doheny, Alan F. Scott, Dimitri Avramopoulos, Aravinda Chakravarti, Julie Hoover‐Fong, Debra Mathews, P. Dane Witmer, Hua Ling, Kurt N. Hetrick, Lee Watkins, Karynne Patterson, Frédéric Reinier, Elizabeth Blue, Donna M. Muzny, Martin Kircher, Kaya Bilgüvar, Francesc López‐Giráldez, V. Reid Sutton, Holly K. Tabor, Suzanne M. Leal, Murat Günel, Shrikant Mane, Richard A. Gibbs, Eric Boerwinkle, Ada Hamosh, Jay Shendure, James R. Lupski, Richard P. Lifton, David Valle, Deborah A. Nickerson, Michael J. Bamshad - The American Journal of Human Genetics 2015 被引用: 688
- Use of Exome Sequencing for Infants in Intensive Care Units
著者: Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew R. Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V. Dharmadhikari, Chunjing Qu, Patricia A. Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari Tokita, Teresa Santiago‐Sim, Hongzheng Dai, Theodore Chiang, Hadley Stevens Smith, Mahshid S. Azamian, Laurie Robak, Bret L. Bostwick, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A. Bacino, Neil A. Hanchard, Michael F. Wangler, Daryl A. Scott, Chester Brown, Jianhong Hu, John W. Belmont, Lindsay C. Burrage, Brett H. Graham, V. Reid Sutton, William J. Craigen, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Donna M. Muzny, Marcus J. Miller, Xia Wang, Magalie S. Leduc, Rui Xiao, Pengfei Liu, Chad A. Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M. Eng, Yaping Yang, Seema R. Lalani - JAMA Pediatrics 2017 被引用: 431
- NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
著者: Paige Martin, Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehli̇van, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa Faqeih, Naif A. M. Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, Ganka Douglas, Jennifer E. Posey, Monique M. Ryan, James R. Lupski, Nigel G. Laing, Claudio A.P. Joazeiro, Gregory A. Cox - Nature Communications 2020 被引用: 100
- A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation
著者: P. J. Hastings, Grzegorz Ira, James R. Lupski - PLoS Genetics 2009 被引用: 847
- COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
著者: Levi B. Watkin, Birthe Jessen, Wojciech Wiszniewski, Timothy J. Vece, Max Jan, Youbao Sha, Maike Thamsen, Regie Lyn P. Santos‐Cortez, Kwanghyuk Lee, Tomasz Gambin, Lisa R. Forbes, Christopher S. Law, Asbjørg Stray‐Pedersen, Mickie Cheng, Emily M. Mace, Mark S. Anderson, Dongfang Liu, Ling Tang, Sarah K. Nicholas, Karen Nahmod, George Makedonas, Debra Canter, Pui–Yan Kwok, John Hicks, Kirk D. Jones, Samantha Penney, Shalini N. Jhangiani, Michael D. Rosenblum, Sharon Dell, Michael Waterfield, Feroz R. Papa, Donna M. Muzny, Noah Zaitlen, Suzanne M. Leal, Claudia Gonzaga‐Jauregui, Eric Boerwinkle, N. Tony Eissa, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Anthony K. Shum - Nature Genetics 2015 被引用: 399
- Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
著者: Clement Y. Chow, Yanling Zhang, James J. Dowling, Natsuko Jin, Maja Adamska, Kensuke Shiga, Kinga Szigeti, Michael E. Shy, Jun Li, Xuebao Zhang, James R. Lupski, Lois S. Weisman, Miriam H. Meisler - Nature 2007 被引用: 511
- A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
著者: Michael T. Lam, Simona Coppola, Oliver H.F. Krumbach, Giusi Prencipe, Antonella Insalaco, Cristina Cifaldi, Immacolata Brigida, Erika Zara, Serena Scala, Silvia Di Cesare, Simone Martinelli, Martina Di Rocco, Antonia Pascarella, Marcello Niceta, Francesca Pantaleoni, Andrea Ciolfi, Petra Netter, Alexandre F. Carisey, Michael Diehl, Mohammad Akbarzadeh, Francesca Conti, Pietro Merli, Anna Pastore, Stefano Levi Mortera, Serena Camerini, Luciapia Farina, Marcel Buchholzer, Luca Pannone, Tram N. Cao, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Luca Basso‐Ricci, Maria Serena Chiriacò, Radovan Dvorský, Lorenza Putignani, Rita Carsetti, Petra Janning, Asbjørg Stray‐Pedersen, Hans Christian Erichsen, AnnaCarin Horne, Yenan T. Bryceson, Lamberto Torralba‐Raga, Kim Ramme, Vittorio Rosti, Claudia Bracaglia, Virginia Messia, Paolo Palma, Andrea Finocchi, Franco Locatelli, Iván K. Chinn, James R. Lupski, Emily M. Mace, Caterina Cancrini, Alessandro Aiuti, Mohammad Reza Ahmadian, Jordan S. Orange, Fabrizio De Benedetti, Marco Tartaglia - The Journal of Experimental Medicine 2019 被引用: 203
- Centers for Mendelian Genomics: A decade of facilitating gene discovery
著者: Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth Blue, Lisa H. Chadwick, Zeynep Coban‐Akdemir, Kimberly F. Doheny, Colleen Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Marcia Adams, François Aguet, Gülsen Akay, Peter Anderson, Corina Antonescu, Harindra Arachchi, Mehmed M. Atik, Christina Austin‐Tse, Larry Babb, Tamara Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilgüvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel G. Calame, Ian M. Campbell, Xiaolong Cao, Claudia M.B. Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Iván K. Chinn, Declan Clarke, Ryan L. Collins, Beryl B. Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad K. Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid M. Fatih, Adam L. Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga‐Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey Hall, Adam Hansen, Tamar Harel, Arif Harmanci, Isabella Herman, Kurt N. Hetrick ほか 142 名 - Genetics in Medicine 2022 被引用: 80
- Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
著者: Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Iván K. Chinn, Zeynep H. Coban Akdemir, Hans Christian Erichsen, Lisa R. Forbes, Shen Gu, Bo Yuan, Shalini N. Jhangiani, Donna M. Muzny, Olaug K. Rødningen, Ying Sheng, Sarah K. Nicholas, Lenora M. Noroski, Filiz O. Seeborg, Carla M. Davis, Debra Canter, Emily M. Mace, Timothy J. Vece, Carl E. Allen, Harshal Abhyankar, Philip M. Boone, Christine R. Beck, Wojciech Wiszniewski, Børre Fevang, Pål Aukrust, Geir E. Tjønnfjord, Tobias Gedde‐Dahl, Henrik Hjorth‐Hansen, Ingunn Dybedal, Ingvild Nordøy, Silje F. Jørgensen, Tore G. Abrahamsen, Torstein Øverland, Anne Grete Bechensteen, Vegard Skogen, Liv Osnes, Mari Ann Kulseth, Trine Prescott, Cecilie F. Rustad, Ketil Heimdal, John W. Belmont, Nicholas L. Rider, Javier Chinen, Tram N. Cao, Eric A. Smith, María Soledad Caldirola, Liliana Bezrodnik, Saúl Oswaldo Lugo Reyes, Francisco Espinosa‐Rosales, Nina Denisse Guerrero-Cursaru, Luis Alberto Pedroza, M. Cecilia Poli, José Luis Franco, Claudia Milena Trujillo Vargas, Juan Carlos Aldave Becerra, Nicola Wright, Thomas B. Issekutz, Andrew C. Issekutz, Jordan K. Abbott, Jason W. Caldwell, Diana K. Bayer, Alice Chan, Alessandro Aiuti, Caterina Cancrini, Eva Holmberg, Christina West, Magnus Burstedt, Ender Karaca, Gözde Yeşil, Hasibe Artaç, Yavuz Bayram, Mehmed M. Atik, Mohammad K. Eldomery, Mohammad Ehlayel, Stephen Jolles, Berit Flatø, Alison A. Bertuch, I. Celine Hanson, Victor Wei Zhang, Lee-Jun Wong, Jianhong Hu, Magdalena Walkiewicz, Yaping Yang, Christine M. Eng, Eric Boerwinkle, Richard A. Gibbs, William T. Shearer, Robert Lyle, Jordan S. Orange, James R. Lupski - Journal of Allergy and Clinical Immunology 2016 被引用: 280
- The complete genome of an individual by massively parallel DNA sequencing
著者: David A. Wheeler, Maithreyan Srinivasan, Michael D. Miller, Yufeng Shen, Lei Chen, Amy L. McGuire, Wen He, Yi‐Ju Chen, Vinod B. Makhijani, George T. Roth, Xavier V. Gomes, Karrie Tartaro, Faheem Niazi, Cynthia Turcotte, Gerard P. Irzyk, James R. Lupski, Craig Chinault, Xingzhi Song, Yue Liu, Ye Yuan, Lynne Nazareth, Xiang Qin, Donna M. Muzny, Marcel Margulies, George M. Weinstock, Richard A. Gibbs, Jonathan M. Rothberg - Nature 2008 被引用: 1,843
- The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
著者: Feng Zhang, Mehrdad Khajavi, Anne M. Connolly, Charles F. Towne, Sat Dev Batish, James R. Lupski - Nature Genetics 2009 被引用: 531
- A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
著者: Shinya Yamamoto, Manish Jaiswal, Wu‐Lin Charng, Tomasz Gambin, Ender Karaca, Ghayda Mirzaa, Wojciech Wiszniewski, Héctor Sandoval, Nele A Haelterman, Bo Xiong, Ke Zhang, Vafa Bayat, Gabriela David, Tongchao Li, Kuchuan Chen, Upasana Gala, Tamar Harel, Davut Pehli̇van, Samantha Penney, Lisenka E.L.M. Vissers, Joep de Ligt, Shalini N. Jhangiani, Ya‐Jing Xie, Stephen H. Tsang, Yeşim Parman, Merve Sivaci, Esra Battaloğlu, Donna M. Muzny, Ying-Wooi Wan, Zhandong Liu, Alexander T. Lin-Moore, Robin D. Clark, Cynthia J. Curry, Nichole Link, Karen L. Schulze, Eric Boerwinkle, William B. Dobyns, Rando Allikmets, Richard A. Gibbs, Rui Chen, James R. Lupski, Michael F. Wangler, Hugo J. Bellen - Cell 2014 被引用: 401
- Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
著者: Ender Karaca, Tamar Harel, Davut Pehli̇van, Shalini N. Jhangiani, Tomasz Gambin, Zeynep Coban‐Akdemir, Claudia Gonzaga‐Jauregui, Serkan Erdin, Yavuz Bayram, Ian M. Campbell, Jill V. Hunter, Mehmed M. Atik, Hilde Van Esch, Bo Yuan, Wojciech Wiszniewski, Sedat Işıkay, Gözde Yeşil, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Hatip Aydın, Tülay Tos, Ayşe Aksoy, Darryl C. De Vivo, Preti Jain, Bilgen Bilge Geçkinli, Özlem Sezer, Davut Gül, Burak Durmaz, Özgür Çoğulu, Ferda Özkınay, Vehap Topçu, Şükrü Candan, Alper Han Çebi, Mevlit Íkbal, Elif Yılmaz Güleç, Alper Gezdirici, Erkan Koparir, Fatma Ekici, Salih Coşkun, Salih Cicek, Kadri Karaer, Asuman Koparır, Mehmet Buğrahan Düz, Emre Kırat, Elif Fenercioğlu, Hakan Ulucan, Mehmet Seven, Tülay Güran, Nursel Elçioğlu, Mahmut Selman Yıldırım, Dilek Aktaş, Mehmet Alikaşifoğlu, Mehmet Türe, Tahsin Yakut, John D. Overton, Adnan Yüksel, Mustafa Özen, Donna M. Muzny, David R. Adams, Eric Boerwinkle, Wendy K. Chung, Richard A. Gibbs, James R. Lupski - Neuron 2015 被引用: 340
