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Arthur L. Beaudet

1968–2023 年に発表

198
論文数
51,116
被引用数
123
h 指数
198
i10 指数

被引用数

Arthur L. Beaudet の年別被引用数1967 年: 被引用 1 件1969 年: 被引用 3 件1970 年: 被引用 6 件1971 年: 被引用 4 件1972 年: 被引用 4 件1973 年: 被引用 8 件1974 年: 被引用 11 件1975 年: 被引用 14 件1976 年: 被引用 7 件1977 年: 被引用 7 件1978 年: 被引用 1 件1979 年: 被引用 4 件1980 年: 被引用 9 件1981 年: 被引用 3 件1982 年: 被引用 4 件1983 年: 被引用 10 件1984 年: 被引用 7 件1985 年: 被引用 7 件1986 年: 被引用 5 件1987 年: 被引用 8 件1988 年: 被引用 5 件1989 年: 被引用 9 件1990 年: 被引用 22 件1991 年: 被引用 17 件1992 年: 被引用 25 件1993 年: 被引用 32 件1994 年: 被引用 57 件1995 年: 被引用 132 件1996 年: 被引用 143 件1997 年: 被引用 244 件1998 年: 被引用 294 件1999 年: 被引用 364 件2000 年: 被引用 367 件2001 年: 被引用 390 件2002 年: 被引用 393 件2003 年: 被引用 343 件2004 年: 被引用 335 件2005 年: 被引用 293 件2006 年: 被引用 292 件2007 年: 被引用 346 件2008 年: 被引用 445 件2009 年: 被引用 388 件2010 年: 被引用 470 件2011 年: 被引用 507 件2012 年: 被引用 451 件2013 年: 被引用 540 件2014 年: 被引用 484 件2015 年: 被引用 633 件2016 年: 被引用 573 件2017 年: 被引用 571 件2018 年: 被引用 540 件2019 年: 被引用 1,529 件2020 年: 被引用 1,497 件2021 年: 被引用 1,377 件2022 年: 被引用 942 件2023 年: 被引用 628 件2024 年: 被引用 924 件2025 年: 被引用 328 件2026 年: 被引用 15 件1968 年は被引用が無いため表示していません

引用元

国・地域

この著者を引用した国・地域の世界地図アメリカ合衆国: 引用元論文 7,342 件、この内訳の 33.8%イギリス: 引用元論文 1,700 件、この内訳の 7.8%ドイツ: 引用元論文 1,202 件、この内訳の 5.5%カナダ: 引用元論文 1,099 件、この内訳の 5.1%中国: 引用元論文 1,064 件、この内訳の 4.9%フランス: 引用元論文 903 件、この内訳の 4.2%イタリア: 引用元論文 765 件、この内訳の 3.5%オランダ: 引用元論文 736 件、この内訳の 3.4%オーストラリア: 引用元論文 639 件、この内訳の 2.9%日本: 引用元論文 561 件、この内訳の 2.6%スペイン: 引用元論文 469 件、この内訳の 2.2%スイス: 引用元論文 378 件、この内訳の 1.7%
0%33.8%その他 22.4%

機関

分野

  • Biochemistry, Genetics and Molecular Biology55.7%
  • Medicine22.2%
  • Neuroscience14.3%
  • Immunology and Microbiology4.4%
  • Agricultural and Biological Sciences0.7%
  • Psychology0.6%
  • その他2.1%

トピック

  • Genetics and Neurodevelopmental Disorders5.3%
  • Genomic variations and chromosomal abnormalities4.5%
  • Genomics and Rare Diseases4.4%
  • Autism Spectrum Disorder Research3.8%
  • Epigenetics and DNA Methylation3.1%
  • Genetic Syndromes and Imprinting2.3%
  • その他76.6%

共著者

全論文

検索で開く
  1. The NIH Roadmap Epigenomics Mapping Consortium

    著者: B Bernstein, J Stamatoyannopoulos, J Costello, Bing Ren, Aleksandar Milosavljevic, Alexander Meissner, Manolis Kellis, Marco A. Marra, Arthur L. Beaudet, Joseph R. Ecker, Peggy Farnham, Martin Hirst, Eric S. Lander, Tarjei S. Mikkelsen, James A. Thomson - Nature Biotechnology 2010 被引用: 2,046

  2. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

    著者: Stephan Sanders, Xin He, A. Jeremy Willsey, A. Gulhan Ercan‐Sencicek, Kaitlin E. Samocha, A. Ercüment Çiçek, Michael T. Murtha, Vanessa H. Bal, Somer Bishop, Shan Dong, Arthur P. Goldberg, Jinlu Cai, John F. Keaney, Lambertus Klei, Jeffrey D. Mandell, Daniel Moreno‐De‐Luca, Christopher S. Poultney, Elise Robinson, Louw Smith, Tor Solli-Nowlan, Mack Y. Su, Nicole A. Teran, Michael F. Walker, Donna M. Werling, Arthur L. Beaudet, Rita M. Cantor, Éric Fombonne, Daniel H. Geschwind, Dorothy E. Grice, Catherine Lord, Jennifer K. Lowe, Shrikant Mane, Donna M. Martin, Eric M. Morrow, Michael E. Talkowski, James S. Sutcliffe, Christopher A. Walsh, Timothy W. Yu, David H. Ledbetter, Christa Lese Martin, Edwin H. Cook, Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Matthew W. State - Neuron 2015 被引用: 1,547

  3. High-throughput discovery of novel developmental phenotypes

    著者: Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret A. Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, M. Eileen Dolan, Sarah Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil Horner, Chih‐Wei Hsu, Sara Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M. J. Nutter, Kevin A. Peterson, Ramiro Ramírez‐Solis, Douglas J. Rowland, Edward J. Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, Wolfgang Wurst, Daniel G. MacArthur, Glauco P. Tocchini‐Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen Parkinson, Mark W. Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabě de Angelis, Yann Hérault, Tim Mohun, Ann‐Marie Mallon, R. Mark Henkelman, Steve D. M. Brown, David J. Adams, K. C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bućan, Stephen A. Murray - Nature 2016 被引用: 1,307

  4. Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis

    著者: Ronald J. Wapner, Christa Lese Martin, Brynn Levy, Blake C. Ballif, Christine M. Eng, Julia Zachary, Melissa Savage, Lawrence D. Platt, Daniel H. Saltzman, William A. Grobman, Susan Klugman, Thomas Scholl, Joe Leigh Simpson, Kimberly McCall, Vimla S. Aggarwal, Brian Bunke, Odelia Nahum, Ankita Patel, Allen N. Lamb, Elizabeth Thom, Arthur L. Beaudet, David H. Ledbetter, Lisa G. Shaffer, Laird Jackson - New England Journal of Medicine 2012 被引用: 1,424

  5. 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

  6. 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

  7. 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

  8. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA

    著者: Linyan Meng, Amanda J. Ward, Seung Chun, C. Frank Bennett, Arthur L. Beaudet, Frank Rigo - Nature 2014 被引用: 527

  9. 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

  10. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

    著者: Pamela Feliciano, Xueya Zhou, Irina Astrovskaya, Tychele N. Turner, Tianyun Wang, Leo Brueggeman, Rebecca Barnard, Alexander Hsieh, LeeAnne Green Snyder, Donna M. Muzny, Aniko Sabo, Leonard Abbeduto, John Acampado, Andrea J. Ace, Charles F. Albright, Michael Alessandri, David G. Amaral, Alpha Amatya, Robert D. Annett, Ivette Arriaga, Ethan Bahl, Adithya Balasubramanian, Nicole Bardett, Asif Bashar, Arthur L. Beaudet, Landon Beeson, Raphael Bernier, Elizabeth Berry‐Kravis, Stephanie Booker, Stephanie Brewster, Elizabeth Brooks, Martin E. Butler, Eric Butter, Kristen Callahan, Alexies Camba, Sarah Carpenter, Nicholas Carriero, Lindsey A. Cartner, Ahmad S. Chatha, Wubin Chin, Renee D. Clark, Cheryl Cohen, Eric Courchesne, Joseph F. Cubells, Mary Hannah Currin, Amy M. Daniels, Lindsey DeMarco, Megan Y. Dennis, Gabriel S. Dichter, Yan Ding, Huyen Dinh, Ryan N. Doan, HarshaVardhan Doddapaneni, Sara Eldred, Christine M. Eng, Craig A. Erickson, Amy Esler, Ali Fatemi, Gregory J. Fischer, I. Fisk, Éric Fombonne, Emily A. Fox, Sunday M. Francis, Sandra Friedman, Swami Ganesan, Michael R. Garrett, Vahid Gazestani, Madeleine R. Geisheker, Jennifer Gerdts, Daniel H. Geschwind, Robin P. Goin‐Kochel, Anthony J. Griswold, Luke P. Grosvenor, Angela Gruber, Amanda C. Gulsrud, Jaclyn Gunderson, Anibal Gutierrez, Melissa N. Hale, Monica Haley, Jacob B. Hall, Kira E. Hamer, Bing Han, Nathan Hanna, Christina Harkins, Nina Harris, Brenda Hauf, Caitlin Hayes, Susan Hepburn, Lynette M. Herbert, Michelle Heyman, Brittani A. Phillips, Susannah Horner, Taobo Hu, Lark Y. Huang-Storms, Hanna Hutter, Dalia Istephanous, Suma Jacob, William B. Jensen, Mark Jones, Michelle Jordy ほか 124 名 - npj Genomic Medicine 2019 被引用: 275

  11. 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

  12. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

    著者: Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo, Michelle Caudle, Rana Chakrabarti, Melanie Napier, Lauren Brick, Lauren Brady, Deanna Alexis Carere, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, Maha Saleh, Arthur L. Beaudet, Chumei Li, Maryia Kozenko, Natalya Karp, Chitra Prasad, Victoria Mok Siu, Mark A. Tarnopolsky, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Ian D. Krantz, Matthew A. Deardorff, Charles E. Schwartz, Bekim Sadiković - The American Journal of Human Genetics 2019 被引用: 206

  13. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

    著者: Stephan Sanders, A. Gulhan Ercan‐Sencicek, Vanessa Hus, Rui Luo, Michael T. Murtha, Daniel Moreno‐De‐Luca, Su H. Chu, Michael Moreau, Abha R. Gupta, Susanne Thomson, Christopher E. Mason, Kaya Bilgüvar, Patrícia B. S. Celestino-Soper, Murim Choi, Emily L. Crawford, Lea K. Davis, Nicole R. Davis Wright, Rahul M. Dhodapkar, Michael DiCola, Nicholas M. DiLullo, Thomas Fernandez, Vikram Fielding‐Singh, Daniel O. Fishman, Stephanie Frahm, Rouben Garagaloyan, Gerald Goh, Sindhuja Kammela, Lambertus Klei, Jennifer K. Lowe, Sabata C. Lund, Anna D. McGrew, Kyle A. Meyer, William J. Moffat, John D. Murdoch, Brian J. O’Roak, G Ober, Rebecca S. Pottenger, Melanie J. Raubeson, Youeun Song, Qi Wang, Brian L. Yaspan, Timothy W. Yu, Ilana R. Yurkiewicz, Arthur L. Beaudet, Rita M. Cantor, Martin Curland, Dorothy E. Grice, Murat Günel, Richard P. Lifton, Shrikant Mane, Donna M. Martin, Chad A. Shaw, Michael Sheldon, Jay A. Tischfield, Christopher A. Walsh, Eric M. Morrow, David H. Ledbetter, Éric Fombonne, Catherine Lord, Christa Lese Martin, Andrew I. Brooks, James S. Sutcliffe, Edwin H. Cook, Daniel H. Geschwind, Kathryn Roeder, Bernie Devlin, Matthew W. State - Neuron 2011 被引用: 1,292

  14. Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals With ASDs: A Consensus Report

    著者: Timothy Buie, Jerry L. Campbell, George J. Fuchs, Glenn T. Furuta, Joseph Levy, Judy VandeWater, Agnes H. Whitaker, Dan Atkins, Margaret L. Bauman, Arthur L. Beaudet, Edward G. Carr, Michael D. Gershon, Susan Hyman, Pipop Jirapinyo, Harumi Jyonouchi, Koorosh Kooros, Rafail I. Kushak, Pat Levitt, Susan E. Levy, Jeffery D. Lewis, Katherine F. Murray, Marvin R. Natowicz, Aderbal Sabrá, Barry K. Wershil, Sharon Weston, Lonnie K. Zeltzer, Harland S. Winter - PEDIATRICS 2010 被引用: 868

  15. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

    著者: Yanzhen Pan, Danielle Bousquet‐Moore, Portia A. McCoy, Arthur L. Beaudet, Caroline J. Kim, Isabel Lorenzo, Michael Ehlers, Benjamin D. Philpot, Richard J. Weinberg, Janet Berrios, Gangyi Wu, Xiaoming Wang, Ramona M. Rodriguiz, Jennifer S. Colvin, Yong‐hui Jiang, William C. Wetsel, Adam Charles Roberts, H. Shawn Je - Human Molecular Genetics 2011 被引用: 545

  16. Human and mouse essentiality screens as a resource for disease gene discovery

    著者: Pilar Cacheiro, Violeta Muñoz‐Fuentes, Stephen A. Murray, Mary E. Dickinson, Maja Bućan, Lauryl M. J. Nutter, Kevin A. Peterson, Hamed Haselimashhadi, Ann M. Flenniken, Hugh W. Morgan, Henrik Westerberg, Tomasz Konopka, Chih‐Wei Hsu, Audrey E. Christiansen, Denise G. Lanza, Arthur L. Beaudet, Jason D. Heaney, Helmut Fuchs, Valérie Gailus‐Durner, Tania Sorg, Jan Procházka, Vendula Novosadová, Christopher J. Lelliott, Hannah Wardle‐Jones, Sara Wells, Lydia Teboul, Heather Cater, Michelle Stewart, Tertius Hough, Wolfgang Wurst, Radislav Sedláček, David J. Adams, John R. Seavitt, Glauco P. Tocchini‐Valentini, Fabio Mammano, Robert E. Braun, Colin McKerlie, Yann Hérault, Martin Hrabě de Angelis, Ann‐Marie Mallon, K. C. Kent Lloyd, Steve D. M. Brown, Helen Parkinson, Terrence F. Meehan, Damian Smedley, J. C. Ambrose, Paramasivam Arumugam, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, H. Brittain, Mark J. Caulfield, Gcf Chan, C. E. H. Craig, Louise C. Daugherty, A. de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, P. Furió-Tarí, J.M. Hackett, Dina Halai, Angela Hamblin, Seton Henderson, J. E. Holman, Tim Hubbard, Kristina Ibáñez, Richard V. Jackson, Lesley Jones, Dalia Kasperavičiūtė, M. Kayikci, L. Lahnstein, Kim Lawson, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, L. Moutsianas, Michael Mueller, Nirupa Murugaesu, A. C. Need, Christopher A. Odhams, C. Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Álvaro Rendón, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, K Savage, K. Sawant, Richard H. Scott, A. Siddiq ほか 96 名 - Nature Communications 2020 被引用: 127

  17. 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

  18. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

    著者: Toshinobu Matsuura, James S. Sutcliffe, Ping Fang, Robert‐Jan H. Galjaard, Yong‐hui Jiang, Claudia S. Benton, Johanna M. Rommens, Arthur L. Beaudet - Nature Genetics 1997 被引用: 875

  19. Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation

    著者: Yong‐hui Jiang, Dawna Armstrong, Urs Albrecht, Coleen M. Atkins, Jeffrey L. Noebels, Gregor Eichele, J. David Sweatt, Arthur L. Beaudet - Neuron 1998 被引用: 869

  20. Epigenetics and Human Disease

    著者: Huda Y. Zoghbi, Arthur L. Beaudet - Cold Spring Harbor Perspectives in Biology 2016 被引用: 361

  21. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

    著者: Harry T. Orr, Ming‐Yi Chung, Sandro Banfi, Thomas J. Kwiatkowski, Antonio Servadio, Arthur L. Beaudet, Alanna E. McCall, Lisa Duvick, Laura P.W. Ranum, Huda Y. Zoghbi - Nature Genetics 1993 被引用: 1,656

  22. Angelman syndrome 2005: Updated consensus for diagnostic criteria

    著者: Charles A. Williams, Arthur L. Beaudet, Jill Clayton‐Smith, Joan H.M. Knoll, Mårtin Kyllerman, Laura Laan, R. Ellen Magenis, A Moncla, Albert Schinzel, Jane Summers, Joseph Wagstaff - American Journal of Medical Genetics Part A 2006 被引用: 646

  23. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology

    著者: Scott V. Dindot, Barbara Antalffy, M Bhattacharjee, Arthur L. Beaudet - Human Molecular Genetics 2007 被引用: 422

  24. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

    著者: Jinglan Zhang, Jianli Li, Jennifer Saucier, Yanming Feng, Yanjun Jiang, Jefferson Sinson, Anne K. McCombs, Eric Schmitt, Sandra Peacock, Stella Chen, Hongzheng Dai, Xiaoyan Ge, Guoli Wang, Chad A. Shaw, Hui Mei, Amy M. Breman, Fan Xia, Yaping Yang, Anne Purgason, Alan Pourpak, Chen Zhao, Xia Wang, Yue Wang, Shashikant Kulkarni, Kwong Wai Choy, Ronald J. Wapner, Ignatia B. Van den Veyver, Arthur L. Beaudet, Sheetal Parmar, Lee‐Jun C. Wong, Christine M. Eng - Nature Medicine 2019 被引用: 265