William B. Dobyns
Active 1983–2025
- 245
- Papers
- 47,407
- Citations
- 127
- h-index
- 245
- i10-index
Citations
Citation sources
Countries
Institutions
Fields
- Biochemistry, Genetics and Molecular Biology52.5%
- Medicine27.8%
- Neuroscience16.5%
- Immunology and Microbiology0.9%
- Psychology0.6%
- Agricultural and Biological Sciences0.5%
- Other1.2%
Topics
- 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%
- Other82.7%
Coauthors
- Renzo Guerrini38
- Ghayda Mirzaa28
- A. James Barkovich26
- David H. Ledbetter21
- Kimberly A. Aldinger21
- Richard J. Leventer18
- Christopher A. Walsh17
- Joseph G. Gleeson17
- Andrew E. Timms14
- Cynthia J. Curry14
- Daniela T. Pilz14
- Kathleen J. Millen14
- Grazia M.S. Mancini13
- Susan L. Christian13
- Ian A. Glass12
- John M. Graham12
- Karen W. Gripp12
- Maha S. Zaki12
- Elena Parrini11
- M. Elizabeth Ross11
- Nataliya Di Donato10
- Soma Das10
- Ingrid E. Scheffer9
- Sarah Collins9
All papers
- Spatial and cell type transcriptional landscape of human cerebellar development
Authors: 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 cited by 231
- Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
Authors: 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 cited by 222
- A developmental and genetic classification for malformations of cortical development: update 2012
Authors: A. James Barkovich, Renzo Guerrini, Ruben Kuzniecky, Graeme D. Jackson, William B. Dobyns - Brain 2012 cited by 1,068
- Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians
Authors: 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 cited by 990
- Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum
Authors: 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 cited by 196
- Consensus Paper: Cerebellar Development
Authors: 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 cited by 499
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Authors: 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 cited by 753
- PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
Authors: 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 cited by 572
- GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Authors: 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 cited by 256
- Malformations of cortical development: clinical features and genetic causes
Authors: Renzo Guerrini, William B. Dobyns - The Lancet Neurology 2014 cited by 504
- Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA
Authors: 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 cited by 581
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
Authors: 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 cited by 1,585
- Infantile hydrocephalus: A review of epidemiology, classification and causes
Authors: Hannah M. Tully, William B. Dobyns - European Journal of Medical Genetics 2014 cited by 404
- A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
Authors: 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 cited by 401
- PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
Authors: 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 cited by 365
- International consensus recommendations on the diagnostic work-up for malformations of cortical development
Authors: 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 cited by 137
- G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex
Authors: 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 cited by 524
- A dyadic approach to the delineation of diagnostic entities in clinical genomics
Authors: 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 cited by 116
- Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism
Authors: 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 cited by 276
- Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Authors: 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 cited by 91
- Recurrent 16p11.2 microdeletions in autism
Authors: 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 cited by 744
- Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
Authors: 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 cited by 705
- Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain
Authors: 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 cited by 167
- NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
Authors: 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 cited by 57
