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William B. Dobyns

CHU Dijon Bourgogne

127H-index
600Paper Count
5.4WCitation Count
Published Papers 245
Publication Date
Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC): A 5-Year Diagnostic Challenge
err2026-05-08
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errMikayla J. Foley; Michael Cole; Carolina Sandoval-Garcia; Robert T. Galvin; William B. Dobyns; Collin M. McClelland; Can Özütemiz
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Response to Kane and Coleman
err2026-01-06
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PREAI
errSanjana Basava; William B. Dobyns
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SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
err2026-01-01
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PREAI
errLee, Eunhye; Sim, Seungmin; Choi, Hee-Jung; Liang, Eugene Y.; Le, Carolyn; Bina, Roya; Cohen, Ryan; George, Elizabeth; Kim, Soo Yeon; Bhat, Gifty; Falsey, Erin; Sidlow, Richard; Clinard, Kristin; Ben-Shachar, Shay; England, Eleina; Menendez, Beatriz; Herman, Isabella; Nielsen, Shelly; Punetha, Jaya; Bhola, Priya; Hamm, J. Austin; Keeney, Megan A.; Sitzman, Nike; Berger, Sara; Mehta, Lakshmi; Conn, Alison J.; Downie, Lilian; Ashfaq, Myla; Northrup, Hope; Bruel, Ange-Line; Odent, Sylvie; Szot, Justin O.; Martinez, Noelia Nunez; Park, Sunju; Refkin, Julie; Good, Jean-Marc; Maurer, Fabienne; Le Caignec, Cedric; Coman, David J.; Anderson, Erin; Richards, Linda J.; Dean, Ryan J.; Yang, Caleb; Choi, Chulwon; Hwang, Byung Joon; Lee, Jin Sook; Dobyns, William B.; Choi, Murim; Sherr, Elliott H.; Chae, Jong-Hee; Kee, Yun; Argilli, Emanuela
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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
err2025-11-10
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errOAAI
errGhayda M. Mirzaa; Keqin Yan; Raissa Relator; Mathieu Levesque; Pranisha Jayasinghe; Sara Timpano; Binnaz Yalcin; Stephan Collins; Alban Ziegler; Emily Pao; Nora Oyama; Elise Brischoux-Boucher; Juliette Piard; Kristin G. Monaghan; Maria. J. Guillen Sacoto; William B. Dobyns; Kristen L. Park; Daniel Martin Fernández-Mayoralas; Alberto Fernández-Jaén; Parul Jayakar; María Palomares-Bralo; Fernando Santos-Simarro; Alfredo Brusco; Vincenzo Antona; Elisa Giorgio; Malin Kvarnung; Bertrand Isidor; Solène Conrad; Benjamin Cogné; Wallid Deb; Kyra E. Stuurman; Katalin Štěrbová; Noor Smal; Sarah Weckhuysen; Renske Oegema; A. Micheil Innes; Daniel. C. Koboldt; Tawfeg Ben-Omran; Rebecca C. Yeh; Michael C. Kruer; Somayeh Bakhtiari; Antigone Papavasiliou; Sébastien Moutton; Sophie Nambot; Sirisak Chanprasert; Sarah A. Paolucci; Kait Miller; Barbara Burton; Katherine Kim; Emily O’Heir; Zandre Bruwer; Kirsten. A. Donald; Tjitske Kleefstra; Amy Goldstein; Brad Angle; Kelly Bontempo; Peter Miny; Pascal Joset; Florence Demurger; Emma Hobson; Lewis Pang; Lori Carpenter; Dong Li; Dominique Bonneau; Bekim Sadikovic; David J. Picketts
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A clinical and genotype-phenotype analysis of MACF1 variants
err2025-09-08
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PREAI
errJordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini
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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures
err2025-06-18
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PREAI
errSankalita Ray Das; Rosie Sullivan; Mischa S.G. Ruegg; Julia Horsfield; Jordan Doran; Gemma Poke; Nathalie de Vries; Sarah Duerinckx; Damien Lederer; Muzhirah Haniffa; Wee-Teik Keng; Gaik-Siew Ch’ng; David A. Parry; Andrew P. Jackson; Masamune Sakamoto; Naomichi Matsumoto; Noriko Miyake; Shin Nabatame; Hidetoshi Taniguchi; Emma Wakeling; Katrin Õunap; Pilvi Ilves; Ghayda Mirzaa; Andrew Timms; Emily Pao; Kimberly A. Aldinger; William Dobyns; Axel Bohring; Beate Behre; Daniel G. Calame; James R. Lupski; Juan M. Pascual; Marc Abramowicz; Gregory Gimenez; Louise S. Bicknell
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Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
err2025-02-01
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PREAI
errVerbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle
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Pontocerebellar hypoplasia: a review from 1912 to 2022
err2025-01-01
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errOAAI
errKukulka, Natalie A.; Singh, Shriya; Whitehead, Matthew T.; Dobyns, William B.; Chang, Taeun; Kousa, Youssef A.
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Diffusion Tensor Imaging in Boys With Adrenoleukodystrophy
err2024-09-10
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errPierpont, Elizabeth I.; Labounek, Rene; Gupta, Ashish; Lund, Troy; Orchard, Paul J.; Dobyns, William B.; Bondy, Monica; Paulson, Amy; Metz, Andrew; Shanley, Ryan; Wozniak, Jeffrey R.; Mueller, Bryon A.; Loes, Daniel; Nascene, David; Nestrasil, Igor
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Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome
err2024-09-01
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errOAAI
errMetry, Denise; Copp, Hillary L.; Rialon, Kristy L.; Iacobas, Ionela; Baselga, Eulalia; Dobyns, William B.; Drolet, Beth; Frieden, Ilona J.; Garzon, Maria; Haggstrom, Anita; Hanson, Darrell; Hollenbach, Laura; Keppler-Noreuil, Kim M.; Maheshwari, Mohit; Siegel, Dawn H.; Waseem, Shamaila; Dias, Mark
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Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis
err2023-08-17
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PREAI
errAlves, C. A. P. F.; Sidpra, J.; Manteghinejad, A.; Sudhakar, S.; Massey, F. V.; Aldinger, K. A.; Haldipur, P.; Lucato, L. T.; Ferraciolli, S. F.; Teixeira, S. R.; Oztekin, O.; Bhattacharya, D.; Taranath, A.; Prabhu, S. P.; Mirsky, D. M.; Andronikou, S.; Millen, K. J.; Barkovich, A. J.; Boltshauser, E.; Dobyns, W. B.; Barkovich, M. J.; Whitehead, M. T.; Mankad, K.
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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
err2023-08-01
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errOAAI
errCaron, Veronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chor, Sarah; Lakhani, Saquib A.; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R.; van de Pol, Laura A.; van Hagen, Johanna M.; Russi, Alvaro Serrano; Le Guyader, Gwenael; Nordenskjold, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancie, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F.; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Francoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R.; Calame, Daniel G.; Genevieve, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A.; Dobyns, William B.; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M.; Tremblay, Andre; Michaud, Jacques L.
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TMEM161B modulates radial glial scaffolding in neocortical development
err2023-01-20
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errOAAI
errWang, Lu; Heffner, Caleb; Vong, Keng Loi; Barrows, Chelsea; Ha, Yoo-Jin; Lee, Sangmoon; Lara-Gonzaleze, Pablo; Jhamb, Ishani; Van der Meer, Dennis; Loughnan, Robert; Parker, Nadine; Sievert, David; Mittal, Swapnil; Issa, Mahmoud Y.; Andreassen, Ole A.; Dale, Anders; Dobyns, William B.; Zaki, Maha S.; Murray, Stephen A.; Gleeson, Joseph G.
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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder
err2022-11-01
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errOAAI
errKhalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A.; Blizzard, Lauren E.; Leslie, Joseph S.; Wakeling, Matthew N.; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L.; Baker, Wisam; Al-Hijawi, Fida'; Keough, Karen C.; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G.; Turnpenny, Peter D.; Walsh, Joseph R.; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T.; Pehlivan, Davut; Akdemir, Zeynep Coban; Posey, Jennifer E.; Lupski, James R.; Dobyns, William B.; Stottmann, Rolf W.; Crosby, Andrew H.; Baple, Emma L.
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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
err2022-10-01
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errOAAI
errHoltz, Alexander M.; VanCoillie, Rachel; Vansickle, Elizabeth A.; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Sacoto, Maria J. Guillen; Si, Yue; Wentzensen, Ingrid M.; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, Andr Prime E.; Argilli, Emanuela; Sherr, Elliott H.; Aldinger, Kimberly A.; Dobyns, William B.; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A.; O'Heir, Emily; Moody, Shade; Kim, Katherine H.; Burton, Barbara K.; Yoon, Grace; Del Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L.; Gordon, Patricia L.; Prokop, Jeremy W.; Karaa, Amel; Bupp, Caleb; Raby, Benjamin A.
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Refining the Neuroimaging Definition of the Dandy-Walker Phenotype
err2022-09-22
err17
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errWhitehead, M. T.; Barkovich, M. J.; Sidpra, J.; Alves, C. A.; Mirsky, D. M.; Oztekin, O.; Bhattacharya, D.; Lucato, L. T.; Sudhakar, S.; Taranath, A.; Andronikou, S.; Prabhu, S. P.; Aldinger, K. A.; Haldipur, P.; Millen, K. J.; Barkovich, A. J.; Boltshauser, E.; Dobyns, W. B.; Mankad, K.
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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
errBRAIN
IF11.7
err2022-09-08
err9
errOAAI
errMattison, Kari A.; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M.; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E.; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J.; Menendez, Beatriz; Hoganson, George E.; Botto, Lorenzo D.; Filloux, Francis M.; Aledo-Serrano, Angel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E.; van der Zwaag, Bert; Aleck, Kyrieckos A.; Fazenbaker, Andrew C.; Balciuniene, Jorune; Dubbs, Holly A.; Marsh, Eric D.; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E.; Deardorff, Matthew A.; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjorg; Moller, Rikke S.; Whitney, Andrea; Douglas, Andrew G. L.; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J.; Tao, James X.; Argilli, Emanuela; Sherr, Elliot H.; Dobyns, William B.; Baines, Richard A.; Warwicker, Jim; Parker, J. Alex; Banka, Siddharth; Campeau, Philippe M.; Escayg, Andrew
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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
errBRAIN
IF11.7
err2022-06-30
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errOAAI
errDi Donato, Nataliya; Guerrini, Renzo; Billington, Charles J., Jr.; Barkovich, A. James; Dinkel, Philine; Freri, Elena; Heide, Michael; Gershon, Elliot S.; Gertler, Tracy S.; Hopkin, Robert J.; Jacob, Suma; Keedy, Sarah K.; Kooshavar, Daniz; Lockhart, Paul J.; Lohmann, Dietmar R.; Mahmoud, Iman G.; Parrini, Elena; Schrock, Evelin; Severi, Giulia; Timms, Andrew E.; Webster, Richard, I; Willis, Mary J. H.; Zaki, Maha S.; Gleeson, Joseph G.; Leventer, Richard J.; Dobyns, William B.
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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
errBRAIN
IF11.7
err2022-03-31
err33
errOAAI
errPirozzi, Filomena; Berkseth, Matthew; Shear, Rylee; Gonzalez, Lorenzo; Timms, Andrew E.; Sulc, Josef; Pao, Emily; Oyama, Nora; Forzano, Francesca; Conti, Valerio; Guerrini, Renzo; Doherty, Emily S.; Saitta, Sulagna C.; Lockwood, Christina M.; Pritchard, Colin C.; Dobyns, William B.; Novotny, Edward; Wright, Jason N. N.; Saneto, Russell P.; Friedman, Seth; Hauptman, Jason; Ojemann, Jeffrey; Kapur, Raj P.; Mirzaa, Ghayda M.
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