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William B. Dobyns

1983–2025 年に発表

245
論文数
47,407
被引用数
127
h 指数
245
i10 指数

被引用数

William B. Dobyns の年別被引用数1967 年: 被引用 2 件1984 年: 被引用 4 件1985 年: 被引用 2 件1986 年: 被引用 7 件1987 年: 被引用 14 件1988 年: 被引用 17 件1989 年: 被引用 13 件1990 年: 被引用 14 件1991 年: 被引用 23 件1992 年: 被引用 26 件1993 年: 被引用 31 件1994 年: 被引用 25 件1995 年: 被引用 30 件1996 年: 被引用 59 件1997 年: 被引用 111 件1998 年: 被引用 159 件1999 年: 被引用 183 件2000 年: 被引用 257 件2001 年: 被引用 251 件2002 年: 被引用 210 件2003 年: 被引用 282 件2004 年: 被引用 277 件2005 年: 被引用 333 件2006 年: 被引用 286 件2007 年: 被引用 255 件2008 年: 被引用 362 件2009 年: 被引用 424 件2010 年: 被引用 355 件2011 年: 被引用 353 件2012 年: 被引用 357 件2013 年: 被引用 355 件2014 年: 被引用 467 件2015 年: 被引用 483 件2016 年: 被引用 382 件2017 年: 被引用 429 件2018 年: 被引用 414 件2019 年: 被引用 1,194 件2020 年: 被引用 1,306 件2021 年: 被引用 1,145 件2022 年: 被引用 833 件2023 年: 被引用 449 件2024 年: 被引用 840 件2025 年: 被引用 270 件2026 年: 被引用 7 件1968〜1983 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 4,336 件、この内訳の 28.2%イギリス: 引用元論文 1,266 件、この内訳の 8.2%ドイツ: 引用元論文 1,017 件、この内訳の 6.6%フランス: 引用元論文 850 件、この内訳の 5.5%イタリア: 引用元論文 777 件、この内訳の 5.1%カナダ: 引用元論文 728 件、この内訳の 4.7%中国: 引用元論文 631 件、この内訳の 4.1%オランダ: 引用元論文 594 件、この内訳の 3.9%日本: 引用元論文 488 件、この内訳の 3.2%オーストラリア: 引用元論文 455 件、この内訳の 3%スペイン: 引用元論文 314 件、この内訳の 2%ブラジル: 引用元論文 300 件、この内訳の 2%
0%28.2%その他 23.5%

機関

分野

  • Biochemistry, Genetics and Molecular Biology52.5%
  • Medicine27.8%
  • Neuroscience16.5%
  • Immunology and Microbiology0.9%
  • Psychology0.6%
  • Agricultural and Biological Sciences0.5%
  • その他1.2%

トピック

  • Genetics and Neurodevelopmental Disorders4.5%
  • Fetal and Pediatric Neurological Disorders2.8%
  • Genomic variations and chromosomal abnormalities2.8%
  • Genomics and Rare Diseases2.6%
  • Genetic Neurodegenerative Diseases2.3%
  • Microtubule and mitosis dynamics2.3%
  • その他82.7%

共著者

全論文

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  1. Spatial and cell type transcriptional landscape of human cerebellar development

    著者: Kimberly A. Aldinger, Zachary Thomson, Ian G. Phelps, Parthiv Haldipur, Mei Deng, Andrew E. Timms, Matthew Hirano, Gabriel Santpere, Charles M. Roco, Alexander Rosenberg, Belén Lorente-Galdós, Forrest O. Gulden, Diana R. O’Day, Lynne M. Overman, Steven Lisgo, Paula Alexandre, Nenad Šestan, Dan Doherty, William B. Dobyns, Georg Seelig, Ian A. Glass, Kathleen J. Millen - Nature Neuroscience 2021 被引用: 231

  2. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

    著者: Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan, Charles J. Sheehan, Fernando C. Alsina, Brieana Fregeau, Kimberly A. Aldinger, Ching Moey, Iryna Lobach, Alexandra Afenjar, Dusica Babovic‐Vuksanovic, Stéphane Bezieau, Patrick R. Blackburn, Jens Bunt, Lydie Bürglen, Philippe M. Campeau, Perrine Charles, Brian Hon‐Yin Chung, Benjamin Cogné, Cynthia J. Curry, Daniela D’Agostino, Nataliya Di Donato, Laurence Faivre, Delphine Héron, A. Micheil Innes, Bertrand Isidor, Boris Keren, Amy Kimball, Eric W. Klee, Paul Kuentz, Sébastien Küry, Dominique Martin‐Coignard, Ghayda Mirzaa, Cyril Mignot, Noriko Miyake, Naomichi Matsumoto, Atsushi Fujita, Caroline Nava, Mathilde Nizon, Diana Rodriguez, Lot Snijders Blok, Christel Thauvin‐Robinet, Julien Thévenon, Marie Vincent, Alban Ziegler, William B. Dobyns, Linda J. Richards, A. James Barkovich, Stephen N. Floor, Debra L. Silver, Elliott H. Sherr - Neuron 2020 被引用: 222

  3. A developmental and genetic classification for malformations of cortical development: update 2012

    著者: A. James Barkovich, Renzo Guerrini, Ruben Kuzniecky, Graeme D. Jackson, William B. Dobyns - Brain 2012 被引用: 1,068

  4. Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians

    著者: Cynthia A. Moore, J. Erin Staples, William B. Dobyns, André Luiz Santos Pessoa, Camila V. Ventura, Eduardo Borges da Fonseca, Erlane Marques Ribeiro, Liana O. Ventura, Norberto Nogueira Neto, J. Fernando Arena, Sonja A. Rasmussen - JAMA Pediatrics 2016 被引用: 990

  5. Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

    著者: Parthiv Haldipur, Kimberly A. Aldinger, Silvia Bernardo, Mei Deng, Andrew E. Timms, Lynne M. Overman, Conrad Winter, Steven Lisgo, Razavi, Evelina Silvestri, Lucia Manganaro, Homa Adle‐Biassette, Fabien Guimiot, Rosa Russo, Debora Kidron, Patrick R. Hof, Dianne Gerrelli, Susan Lindsay, William B. Dobyns, Ian A. Glass, Paula Alexandre, Kathleen J. Millen - Science 2019 被引用: 196

  6. Consensus Paper: Cerebellar Development

    著者: Ketty Leto, Marife Arancillo, Esther B. E. Becker, Annalisa Buffo, Chin Chiang, Baojin Ding, William B. Dobyns, Isabelle Dusart, Parthiv Haldipur, Mary E. Hatten, Mikio Hoshino, Alexandra L. Joyner, Masanobu Kano, Daniel L. Kilpatrick, Noriyuki Koibuchi, Silvia Marino, Salvador Martı́nez, Kathleen J. Millen, Thomas O Millner, Takaki Miyata, Elena Parmigiani, Karl Schilling, Gabriella Sekerková, Roy V. Sillitoe, Constantino Sotelo, Naofumi Uesaka, Annika K. Wefers, Richard Wingate, Richard Hawkes - The Cerebellum 2015 被引用: 499

  7. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    著者: Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas Ward, Hailly E Butler, Nancy Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand Saggar, Tally Lerman‐Sagie, Gökhan Uyanık, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns - Nature Genetics 2012 被引用: 753

  8. PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

    著者: Kim M. Keppler‐Noreuil, Jonathan J. Rios, Victoria Parker, Robert K. Semple, Marjorie J. Lindhurst, Julie C. Sapp, Ahmad I. Alomari, Marybeth Ezaki, William B. Dobyns, Leslie G. Biesecker - American Journal of Medical Genetics Part A 2014 被引用: 572

  9. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    著者: Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke - Journal of Medical Genetics 2017 被引用: 256

  10. Malformations of cortical development: clinical features and genetic causes

    著者: Renzo Guerrini, William B. Dobyns - The Lancet Neurology 2014 被引用: 504

  11. Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

    著者: Valerie L. Luks, Nolan Kamitaki, Matthew P. Vivero, Wibke Uller, Rashed Rab, Judith V.M.G. Bovée, Kristy L. Rialon, Carlos J. Guevara, Ahmad I. Alomari, Arin K. Greene, Steven J. Fishman, Harry P. Kozakewich, Reid A. Maclellan, John B. Mulliken, Reza Rahbar, Samantha A. Spencer, Cameron C. Trenor, Joseph Upton, David Zurakowski, Jonathan A. Perkins, Andrew L. Kirsh, James T. Bennett, William B. Dobyns, Kyle C. Kurek, Matthew L. Warman, Steven A. McCarroll, Rudy Murillo - The Journal of Pediatrics 2015 被引用: 581

  12. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

    著者: Olga Zhuchenko, Jennifer M. Bailey, Penelope E. Bonnen, Tetsuo Ashizawa, David W. Stockton, Chris Amos, William B. Dobyns, S. H. Subramony, Huda Y. Zoghbi, Cheng Chi Lee - Nature Genetics 1997 被引用: 1,585

  13. Infantile hydrocephalus: A review of epidemiology, classification and causes

    著者: Hannah M. Tully, William B. Dobyns - European Journal of Medical Genetics 2014 被引用: 404

  14. 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

  15. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

    著者: Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak, Brian J. O’Roak, Joseph B. Hiatt, William H. Roden, Sonya A. Gunter, Susan L. Christian, Sarah Collins, Carissa Adams, Jean‐Baptiste Rivière, Judith St‐Onge, Jeffrey G. Ojemann, Jay Shendure, Robert F. Hevner, William B. Dobyns - Brain 2015 被引用: 365

  16. International consensus recommendations on the diagnostic work-up for malformations of cortical development

    著者: Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Eleonora Aronica, Nadia Bahi‐Buisson, Valerio Conti, Andrew E. Fry, Tobias Geis, David Gómez‐Andrés, Elena Parrini, Ivana Pogledić, Edith Said, Doriette Soler, Luis M. Valor, Maha S. Zaki, Ghayda Mirzaa, William B. Dobyns, Orly Reiner, Renzo Guerrini, Daniela T. Pilz, Ute Hehr, Richard J. Leventer, Anna Jansen, Grazia M.S. Mancini, Nataliya Di Donato - Nature Reviews Neurology 2020 被引用: 137

  17. G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

    著者: Xianhua Piao, R. Sean Hill, Adria Bodell, Bernard S. Chang, Lina Basel‐Vanagaite, Rachel Straussberg, William B. Dobyns, Bassam Qasrawi, Robin M. Winter, A. Micheil Innes, Thomas Voit, M. Elizabeth Ross, Jacques L. Michaud, Jean-Claude Déscarie, A. James Barkovich, Christopher A. Walsh - Science 2004 被引用: 524

  18. A dyadic approach to the delineation of diagnostic entities in clinical genomics

    著者: Leslie G. Biesecker, Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Hon‐Yin Chung, Robin D. Clark, Timothy C. Cox, Cynthia J. Curry, Mary Beth Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian A. Glass, John M. Graham, Karen W. Gripp, Chad Haldeman‐Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler‐Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda Mirzaa, John J. Mulvihill, Małgorzata J.M. Nowaczyk, Roberta A Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez‐Lara, Laurie H. Seaver, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen‐Hann Tan, Anne Chun‐Hui Tsai, David D. Weaver, Marc S. Williams, Elaine H. Zackai, Yuri A. Zárate - The American Journal of Human Genetics 2021 被引用: 116

  19. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

    著者: Ghayda Mirzaa, Catarina D. Campbell, Nadia Solovieff, Carleton P. Goold, Laura A. Jansen, Suchithra Menon, Andrew E. Timms, Valerio Conti, Jonathan Biag, Carissa Olds, Evan A. Boyle, Sarah Collins, Gisele E. Ishak, Sandra L. Poliachik, Katta M. Girisha, Kit San Yeung, Brian Hon‐Yin Chung, Elisa Rahikkala, Sonya A. Gunter, Sharon S. McDaniel, Colleen Macmurdo, Jonathan A. Bernstein, Beth Martin, Rebecca Leary, Scott Mahan, Shanming Liu, Molly Weaver, Michael O. Dorschner, Shalini N. Jhangiani, Donna M. Muzny, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski, Jay Shendure, Russell P. Saneto, Edward J. Novotny, Christopher J. Wilson, William R. Sellers, Michael Morrissey, Robert F. Hevner, Jeffrey G. Ojemann, Renzo Guerrini, Leon O. Murphy, Wendy Winckler, William B. Dobyns - JAMA Neurology 2016 被引用: 276

  20. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

    著者: Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels, Aubrie Soucy, Casie A. Genetti, Victoria Suslovitch, Lance H. Rodan, George E. Tiller, Gaëtan Lesca, Karen W. Gripp, Reza Asadollahi, Ada Hamosh, Carolyn Applegate, Peter D. Turnpenny, Marleen Simon, Catharina M.L. Volker‐Touw, Koen L.I. van Gassen, Ellen van Binsbergen, Rolph Pfundt, Thatjana Gardeitchik, Bert B.A. de Vries, LaDonna Immken, Catherine A. Buchanan, Marcia Willing, Tomi L. Toler, Emily Fassi, Laura Baker, Fleur Vansenne, Xiadong Wang, Julian L. Ambrus, Madeleine Fannemel, Jennifer E. Posey, Emanuele Agolini, Antonio Novelli, Anita Rauch, Paranchai Boonsawat, Christina Fagerberg, Martin J. Larsen, Maria Kibæk, Audrey Labalme, Alice Poisson, Katelyn Payne, Laurence E. Walsh, Kimberly A. Aldinger, Jorune Balciuniene, Cara Skraban, Christopher Gray, Jill R. Murrell, Caleb Bupp, Giulia Pascolini, Paola Grammatico, Martin Broly, Sébastien Küry, Mathilde Nizon, Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Cornelia Kraus, André Reis, Muhammad Aamir Iqbal, Kévin Uguen, Séverine Audebert‐Bellanger, Claude Férec, Sylvia Redon, Janice Baker, Yunhong Wu, Guiseppe Zampino, Steffan Syrbe, Ines Brösse, Rami Abou Jamra, William B. Dobyns, Lilian Cohen, Anne Blomhoff, Cyril Mignot, Boris Keren, Thomas Courtin, Pankaj B. Agrawal, Alan H. Beggs, Timothy W. Yu - Genetics in Medicine 2021 被引用: 91

  21. Recurrent 16p11.2 microdeletions in autism

    著者: Revati Kumar, Samer Karamohamed, Jyotsna Sudi, Donald F. Conrad, Camille W. Brune, Judith A. Badner, T. Conrad Gilliam, Norma J. Nowak, Edwin H. Cook, William B. Dobyns, Susan L. Christian - Human Molecular Genetics 2007 被引用: 744

  22. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

    著者: Kunio Kitamura, Masako Yanazawa, Noriyuki Sugiyama, Hirohito Miura, Akiko Iizuka‐Kogo, Masatomo Kusaka, Kayo Omichi, Rika Suzuki, Yûkô Fukui, Kyoko Kamiirisa, Mina Matsuo, Shin-ichi Kamijo, Megumi Kasahara, Hidefumi Yoshioka, Tsutomu Ogata, Takayuki Fukuda, Ikuko Kondo, Mitsuhiro Kato, William B. Dobyns, Minesuke Yokoyama, Ken-ichirou Morohashi - Nature Genetics 2002 被引用: 705

  23. Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain

    著者: Kristina M. Adams Waldorf, Branden R. Nelson, Jennifer Stencel-Baerenwald, Colin Studholme, Raj P. Kapur, Blair Armistead, Christie L. Walker, Sean Merillat, Jay Vornhagen, Jennifer Tisoncik-Go, Audrey Baldessari, Michelle M. Coleman, Manjiri Dighe, Dennis Shaw, Justin A. Roby, Verónica Santana-Ufret, Erica Boldenow, Junwei Li, Xiaohu Gao, Michael A. Davis, Jesica Swanstrom, Kara Jensen, Douglas G. Widman, Ralph S. Baric, Joseph T. Medwid, Kathryn A. Hanley, Jason Ogle, Gillian Gough, Wonsok Lee, Chris English, W McIntyre Durning, Jeff Thiel, Chris Gatenby, Elyse C Dewey, Marian R. Fairgrieve, Rebecca D. Hodge, Richard Grant, LaRene Kuller, William B. Dobyns, Robert F. Hevner, Michael Gale, Lakshmi Rajagopal - Nature Medicine 2018 被引用: 167

  24. NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

    著者: Sanxiong Liu, Kimberly A. Aldinger, Chi Vicky Cheng, Takae Kiyama, Mitali Dave, Hanna K. McNamara, Wukui Zhao, James M. Stafford, Nicolas Descostes, Pedro Lee, Stefano Giuseppe Caraffi, Ivan Ivanovski, Edoardo Errichiello, Christiane Zweier, Orsetta Zuffardi, Michael Schneider, Antigone Papavasiliou, Μ. Scott Perry, Jennifer B. Humberson, Megan T. Cho, Astrid Weber, Andrew Swale, Tudor C. Badea, Chai‐An Mao, Livia Garavelli, William B. Dobyns, Danny Reinberg - Molecular Cell 2021 被引用: 57