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Arthur L. Beaudet

Active 1968–2023

198
Papers
51,116
Citations
123
h-index
198
i10-index

Citations

Citations per year for Arthur L. Beaudet1967: 1 citations1969: 3 citations1970: 6 citations1971: 4 citations1972: 4 citations1973: 8 citations1974: 11 citations1975: 14 citations1976: 7 citations1977: 7 citations1978: 1 citations1979: 4 citations1980: 9 citations1981: 3 citations1982: 4 citations1983: 10 citations1984: 7 citations1985: 7 citations1986: 5 citations1987: 8 citations1988: 5 citations1989: 9 citations1990: 22 citations1991: 17 citations1992: 25 citations1993: 32 citations1994: 57 citations1995: 132 citations1996: 143 citations1997: 244 citations1998: 294 citations1999: 364 citations2000: 367 citations2001: 390 citations2002: 393 citations2003: 343 citations2004: 335 citations2005: 293 citations2006: 292 citations2007: 346 citations2008: 445 citations2009: 388 citations2010: 470 citations2011: 507 citations2012: 451 citations2013: 540 citations2014: 484 citations2015: 633 citations2016: 573 citations2017: 571 citations2018: 540 citations2019: 1,529 citations2020: 1,497 citations2021: 1,377 citations2022: 942 citations2023: 628 citations2024: 924 citations2025: 328 citations2026: 15 citations1968: no citations, so this year is not shown

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 7,342 citing papers, 33.8% of this breakdownUnited Kingdom: 1,700 citing papers, 7.8% of this breakdownGermany: 1,202 citing papers, 5.5% of this breakdownCanada: 1,099 citing papers, 5.1% of this breakdownChina: 1,064 citing papers, 4.9% of this breakdownFrance: 903 citing papers, 4.2% of this breakdownItaly: 765 citing papers, 3.5% of this breakdownNetherlands: 736 citing papers, 3.4% of this breakdownAustralia: 639 citing papers, 2.9% of this breakdownJapan: 561 citing papers, 2.6% of this breakdownSpain: 469 citing papers, 2.2% of this breakdownSwitzerland: 378 citing papers, 1.7% of this breakdown
0%33.8%Other 22.4%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology55.7%
  • Medicine22.2%
  • Neuroscience14.3%
  • Immunology and Microbiology4.4%
  • Agricultural and Biological Sciences0.7%
  • Psychology0.6%
  • Other2.1%

Topics

  • 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%
  • Other76.6%

Coauthors

All papers

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  1. The NIH Roadmap Epigenomics Mapping Consortium

    Authors: 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 cited by 2,046

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

    Authors: 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 cited by 1,547

  3. High-throughput discovery of novel developmental phenotypes

    Authors: 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 cited by 1,307

  4. Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis

    Authors: 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 cited by 1,424

  5. Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

    Authors: 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 cited by 1,975

  6. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

    Authors: 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 cited by 775

  7. Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

    Authors: 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 cited by 1,401

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

    Authors: Linyan Meng, Amanda J. Ward, Seung Chun, C. Frank Bennett, Arthur L. Beaudet, Frank Rigo - Nature 2014 cited by 527

  9. Reanalysis of Clinical Exome Sequencing Data

    Authors: 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 cited by 298

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

    Authors: 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 and 124 more - npj Genomic Medicine 2019 cited by 275

  11. Use of Exome Sequencing for Infants in Intensive Care Units

    Authors: 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 cited by 431

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

    Authors: 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 cited by 206

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

    Authors: 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 cited by 1,292

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

    Authors: 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 cited by 868

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

    Authors: 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 cited by 545

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

    Authors: 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 and 96 more - Nature Communications 2020 cited by 127

  17. Centers for Mendelian Genomics: A decade of facilitating gene discovery

    Authors: 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 and 142 more - Genetics in Medicine 2022 cited by 80

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

    Authors: 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 cited by 875

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

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

  20. Epigenetics and Human Disease

    Authors: Huda Y. Zoghbi, Arthur L. Beaudet - Cold Spring Harbor Perspectives in Biology 2016 cited by 361

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

    Authors: 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 cited by 1,656

  22. Angelman syndrome 2005: Updated consensus for diagnostic criteria

    Authors: 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 cited by 646

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

    Authors: Scott V. Dindot, Barbara Antalffy, M Bhattacharjee, Arthur L. Beaudet - Human Molecular Genetics 2007 cited by 422

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

    Authors: 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 cited by 265