R
Richard J. Leventer
Researcher at Royal Children's Hospital
Publications - 207
Citations - 8913
Richard J. Leventer is an academic researcher from Royal Children's Hospital. The author has contributed to research in topics: Polymicrogyria & Epilepsy. The author has an hindex of 49, co-authored 194 publications receiving 7255 citations. Previous affiliations of Richard J. Leventer include University of Chicago & Hospital Kuala Lumpur.
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Journal ArticleDOI
14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome
Kazuhito Toyo-oka,Aki Shionoya,Michael J. Gambello,Michael J. Gambello,Carlos Cardoso,Carlos Cardoso,Richard J. Leventer,Richard J. Leventer,Heather L. Ward,Ramses Ayala,Li-Huei Tsai,William B. Dobyns,David H. Ledbetter,Shinji Hirotsune,Anthony Wynshaw-Boris +14 more
TL;DR: A crucial role is established for 14-3-3ε in neuronal development by sustaining the effects of CDK5 phosphorylation and providing a molecular explanation for the differences in severity of human neuronal migration defects with 17p13.3 deletions.
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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Zornitza Stark,Tiong Yang Tan,Belinda Chong,Gemma R Brett,Patrick Yap,Maie Walsh,Alison Yeung,Heidi Peters,Heidi Peters,Dylan A. Mordaunt,Dylan A. Mordaunt,Shannon Cowie,David J. Amor,Ravi Savarirayan,George McGillivray,Lilian Downie,Paul G Ekert,Christiane Theda,Christiane Theda,Paul A. James,Joy Yaplito-Lee,Monique M. Ryan,Monique M. Ryan,Richard J. Leventer,Richard J. Leventer,Emma Creed,Ivan Macciocca,Katrina M. Bell,Alicia Oshlack,Simon Sadedin,Peter Georgeson,Charlotte Anderson,Natalie P. Thorne,Clara Gaff,Susan M. White +34 more
TL;DR: Singleton WES outperformed standard care in terms of diagnosis rate and the benefits of a diagnosis, namely, impact on management of the child and clarification of reproductive risks for the extended family in a timely manner.
Journal ArticleDOI
Somatic mutations in cerebral cortical malformations
Saumya Shekhar Jamuar,Anh Thu N. Lam,Martin Kircher,Alissa M. D'Gama,Jian Wang,Brenda J. Barry,Xiaochang Zhang,Robert Sean Hill,Jennifer N. Partlow,Aldo Rozzo,Sarah Servattalab,Bhaven K. Mehta,Meral Topçu,Dina Amrom,Eva Andermann,Bernard Dan,Elena Parrini,Renzo Guerrini,Ingrid E. Scheffer,Samuel F. Berkovic,Richard J. Leventer,Yiping Shen,Bai-Lin Wu,A. James Barkovich,Mustafa Sahin,Bernard S. Chang,Michael J. Bamshad,Deborah A. Nickerson,Jay Shendure,Annapurna Poduri,Timothy W. Yu,Christopher A. Walsh +31 more
TL;DR: Targeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations and potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria were found.
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Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis
Sudarshini Ramanathan,Kristina Prelog,Elizabeth H Barnes,Esther M Tantsis,Stephen W. Reddel,Andrew P.D. Henderson,Steve Vucic,Mark P. Gorman,Leslie Benson,Gulay Alper,Catherine J. Riney,Michael Barnett,John Parratt,Todd A. Hardy,Richard J. Leventer,Vera Merheb,Margherita Nosadini,Victor S.C. Fung,Fabienne Brilot,Russell C. Dale +19 more
TL;DR: The combination of two predictors, the absence of magnetic resonance imaging brain abnormalities and a higher lesion extent score, showed a good ability to discriminate between an autoantibody-associated ON (MOG or AQP4) and MS.
Journal ArticleDOI
Childhood brain insult: can age at insult help us predict outcome?
Vicki Anderson,Megan Spencer-Smith,Richard J. Leventer,Lee Coleman,Peter J. Anderson,Jacqueline H Williams,Mardee Greenham,Rani Jacobs +7 more
TL;DR: The impact of early brain insults has been considered to be less significant than for later brain injuries, consistent with the notion that the young brain is more flexible and able to reorganize in the context of brain insults as mentioned in this paper.