Publications by authors named "Richard Leventer"

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Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.
Breana Galea, Joshua Reid, Samuel Gooley, Tom Witkowski, Tara Lane, Richard J Leventer

medRxiv· November 2025

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A clinical and genotype-phenotype analysis of MACF1 variants.
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, David B Everman, Camerun Washington, Richard J Leventer

Am J Hum Genet· October 2025

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Structural mediation of the default-mode network in children with callosal agenesis.
Céline Provins, Anjali Tarun Nahalka, Léa Schmidt, Vicki Anderson, Alissandra McIlroy, Richard Leventer

Cereb Cortex· July 2025

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Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.
Michelle Hua, Mohamad-Reza Aghanoori, Melissa MacPherson, Yi Ren, Yifan Yang, Richard J Leventer

medRxiv· June 2025

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Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
Matthew J Welland, K D Ahlquist, Paul De Fazio, Christina Austin-Tse, Lynn Pais, Richard Leventer

medRxiv· May 2025

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Saturation genome editing of reveals distinct dominant and recessive neurodevelopmental disorders.
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Richard J Leventer

medRxiv· April 2025

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ILAE genetic literacy series: Focal cortical dysplasia.
Emma Macdonald-Laurs, Richard J Leventer,

Epileptic Disord· February 2025

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The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
Matthew Coleman, Min Wang, Penny Snell, Wei Shern Lee, Colleen D'Arcy, Richard J Leventer

Brain Commun· January 2025

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Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, Amy L Schneider, Candace T Myers, Richard J Leventer

Ann Neurol· November 2024

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Inherited Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.
Michael S Hildebrand, Ruth O Braden, Mariana L Lauretta, Antony Kaspi, Richard J Leventer

Neurol Genet· October 2024

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Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing.
James Spyrou, Khaing Phyu Aung, Hannah Vanyai, Richard J Leventer, Snezana Maljevic

Neurobiol Dis· October 2024

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Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.
Ella Wilson, Richard Leventer, Chloe Cunningham, Michelle G de Silva, Jan Hodgson

Orphanet J Rare Dis· September 2024

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Richard J Leventer

Nature· August 2024

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Language and communication functioning in children and adolescents with agenesis of the corpus callosum.
Charlene Moser, Megan M Spencer-Smith, Peter J Anderson, Alissandra McIlroy, Amanda G Wood, Richard J Leventer

Brain Lang· August 2024

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Why did my seizures start now? Influences of lesion connectivity and genetic etiology on age at seizure onset in focal epilepsy.
Emma Macdonald-Laurs, Aaron E L Warren, Richard J Leventer, A Simon Harvey

Epilepsia· June 2024

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The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Emma Macdonald-Laurs, Aaron E L Warren, Peter Francis, Simone A Mandelstam, Wei Shern Lee, Richard J Leventer

Brain· April 2024

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Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Matthew Coleman, Paulo Pinares-Garcia, Sarah E Stephenson, Wei Shern Lee, Daniz Kooshavar, Richard J Leventer

Neurol Genet· April 2024

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variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Richard J Leventer

medRxiv· April 2024

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Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Daniz Kooshavar, David J Amor, Kirsten Boggs, Naomi Baker, Christopher Barnett, Richard J Leventer

Brain Commun· February 2024

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Inhibitory control in children with agenesis of the corpus callosum compared with typically developing children.
Emilyn Soon, Vanessa Siffredi, Peter J Anderson, Vicki A Anderson, Alissandra McIlroy, Richard J Leventer

J Int Neuropsychol Soc· January 2024

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Pathogenic Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in or .
Wei Shern Lee, Emma Macdonald-Laurs, Sarah Stephenson, Colleen D'Arcy, Wirginia Maixner, Richard J Leventer

Neurology· July 2023

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Aicardi Syndrome Is a Genetically Heterogeneous Disorder.
Thuong T Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A Mandelstam, Richard J Leventer

Genes (Basel)· July 2023

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WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Karen L Oliver, Marina Trivisano, Simone A Mandelstam, Angela De Dominicis, David I Francis, Richard J Leventer

Epilepsia· May 2023

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Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L Gaff, Richard J Leventer

Am J Hum Genet· March 2023

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Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II.
Emma Macdonald-Laurs, Aaron E L Warren, Wei Shern Lee, Joseph Yuan-Mou Yang, Duncan MacGregor, Richard J Leventer

Epilepsia· February 2023

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