Rick Leventer

Defining the phenotypical spectrum associated with variants in TUBB2A.

Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Krägeloh-Mann, Tobias B Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J Leventer, Ghayda Mirzaa, et al.

Journal article  |  2020  |  Journal of Medical Genetics

BACKGROUND: Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations ref..

Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations

Megan Spencer-Smith, Jacquelyn L Knight, Emmanuelle Lacaze, Christel Depienne, Paul J Lockhart, Linda J Richards, Delphine Heron, Richard J Leventer, Gail A Robinson

Journal article  |  2020  |  Developmental Medicine & Child Neurology

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features

Lubov Blumkin, Zvi Leibovitz, Karina Krajden-Haratz, Ayala Arad, Keren Yosovich, Liat Gindes, Ayelet Zerem, Liat Ben-Sira, Dorit Lev, Andrea Nissenkorn, Dvora Kidron, William B Dobyns, Gustavo Malinger, Nadia Bahi-Buisson, Richard J Leventer, Tally Lerman-Sagie

Journal article  |  2020  |  European Journal of Paediatric Neurology

OBJECTIVE: To describe fetal, clinical, radiological, morphological features of TUBB3 related syndrome. METHODS: We report two fam..

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Meng-Han Tsai, Alison M Muir, Won-Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei-Feng Wu, Ying-Chao Chang, Brenda E Porter, Laura A Jansen, Guillaume Sebire, Nicolas Deconinck, Wen-Lang Fan, Shih-Chi Su, Wen-Hung Chung, Edith P Almanza Fuerte, Michele G Mehaffey, Ching-Ching Ng, Chung-Kin Chan, Kheng-Seang Lim, et al.

Journal article  |  2020  |  Neuron

Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities..

Parental health spillover effects of paediatric rare genetic conditions

You Wu, Hareth Al-Janabi, Andrew Mallett, Catherine Quinlan, Ingrid E Scheffer, Katherine B Howell, John Christodoulou, Richard J Leventer, Paul J Lockhart, Zornitza Stark, Tiffany Boughtwood, Ilias Goranitis

Journal article  |  2020  |  Quality of Life Research

Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature

Chloe A Stutterd, David Francis, George McGillivray, Paul J Lockhart, Richard J Leventer

Journal article  |  2020  |  European Journal of Medical Genetics

We present the case of a male infant with bilateral perisylvian polymicrogyria associated with a de novo duplication of chromosome..

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.

Carolyn Bursle, Eppie M Yiu, Alison Yeung, Jeremy L Freeman, Chloe Stutterd, Richard J Leventer, Adeline Vanderver, Joy Yaplito-Lee

Journal article  |  2020  |  JIMD Reports

We report two unrelated patients with infantile onset leukoencephalopathy with vanishing white matter (VWM) and hyperinsulinaemic ..

Anterior and posterior commissures in agenesis of the corpus callosum: Alternative pathways for attention processes?

Vanessa Siffredi, Amanda G Wood, Richard J Leventer, Maarten Vaessen, Alissandra McIlroy, Vicki Anderson, Patrik Vuilleumier, Megan M Spencer-Smith

Journal article  |  2019  |  Cortex

Developmental absence (agenesis) of the corpus callosum (AgCC) is a congenital brain malformation resulting from disruption of cor..

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M White, Mari Matsuo, Kayoko Saito, Shubha Phadke, Tomoki Kosho, Patrick Yap, Manisha Goyal, Lorne A Clarke, Rani Sachdev, George McGillivray, Richard J Leventer, et al.

Journal article  |  2019  |  Journal of Human Genetics

Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability,..

Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8

Christopher M Richmond, Richard Leventer, Monique M Ryan, Martin B Delatycki

Journal article  |  2019  |  Clinical Genetics

Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare fo..

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

Renske Oegema, George McGillivray, Richard Leventer, Anne-Gaelle Le Moing, Nadia Bahi-Buisson, Angela Barnicoat, Simone Mandelstam, David Francis, Fiona Francis, Grazia MS Mancini, Sanne Savelberg, Gijs van Haaften, Kshitij Mankad, Maarten H Lequin

Journal article  |  2019  |  American Journal of Medical Genetics Part C: Seminars in Medical Genetics

EML1 encodes the protein Echinoderm microtubule-associated protein-like 1 or EMAP-1 that binds to the microtubule complex. Mutatio..

Speech and language in bilateral perisylvian polymicrogyria: a systematic review

Ruth O Braden, Richard J Leventer, Anna Jansen, Ingrid E Scheffer, Angela T Morgan

Journal article  |  2019  |  Developmental Medicine & Child Neurology

AIM: We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polym..

Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research

Tamar Sapir, Tahsin Stefan Barakat, Mercedes F Paredes, Tally Lerman-Sagie, Eleonora Aronica, Wlodzimierz Klonowski, Laurent Nguyen, Bruria Ben Zeev, Nadia Bahi-Buisson, Richard Leventer, Noa Rachmian, Orly Reiner

Journal article  |  2019  |  Frontiers in Cellular Neuroscience

Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination

Fiona Tea, Joseph A Lopez, Sudarshini Ramanathan, Vera Merheb, Fiona XZ Lee, Alicia Zou, Deepti Pilli, Ellis Patrick, Anneke van der Walt, Mastura Monif, Esther M Tantsis, Eppie M Yiu, Steve Vucic, Andrew PD Henderson, Anthony Fok, Clare L Fraser, Jeanette Lechner-Scott, Stephen W Reddel, Simon Broadley, Michael H Barnett, et al.

Journal article  |  2019  |  Acta Neuropathologica Communications

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones, et al.

Journal article  |  2019  |  Epilepsia Open

We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephal..

Uveitis and optic perineuritis in the context of myelin oligodendrocyte glycoprotein antibody seropositivity.

S Ramanathan, C Fraser, SR Curnow, M Ghaly, RJ Leventer, J Lechner-Scott, A Henderson, S Reddel, RC Dale, F Brilot

Journal article  |  2019  |  European Journal of Neurology

BACKGROUND AND PURPOSE: Antibodies to myelin oligodendrocyte glycoprotein (MOG) have been identified in both children and adults w..

Trio whole-genome sequencing for patients with unclassified leukodystrophies

CA Stutterd, M Delatycki, P Lockhart, R Taft, A Vanderver, C Simons, RJ Leventer

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

Alastair H MacLennan, Sara Lewis, Andres Moreno-De-Luca, Michael Fahey, Richard J Leventer, Sarah McIntyre, Hilla Ben-Pazi, Mark Corbett, Xiaoyang Wang, Gareth Baynam, Darcy Fehlings, Manju A Kurian, Changlian Zhu, Kate Himmelmann, Hayley Smithers-Sheedy, Yana Wilson, Carlos Santos Ocana, Clare van Eyk, Nadia Badawi, Richard F Wintle, et al.

Journal article  |  2019  |  Journal of Child Neurology

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

Wei Shern Lee, Sarah EM Stephenson, Katherine B Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A Mandelstam, Samuel F Berkovic, Ingrid E Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J Lockhart, Richard J Leventer

Journal article  |  2019  |  Annals of Clinical and Translational Neurology

Focal cortical dysplasia (FCD) causes drug-resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. Ho..

Pathogenic Variants in GPC4 Cause Keipert Syndrome

David J Amor, Sarah EM Stephenson, Mirna Mustapha, Martin A Mensah, Charlotte W Ockeloen, Wei Shern Lee, Rick M Tankard, Dean G Phelan, Marwan Shinawi, Arjan PM de Brouwer, Rolph Pfundt, Cari Dowling, Tomi L Toler, V Reid Sutton, Emanuele Agolini, Martina Rinelli, Rossella Capolino, Diego Martinelli, Giuseppe Zampino, Miroslav Dumic, et al.

Journal article  |  2019  |  The American Journal of Human Genetics

Cerebral hypomyelination associated with biallelic variants of FIG4

Guy M Lenk, Ian R Berry, Chloe A Stutterd, Moira Blyth, Lydia Green, Gayatri Vadlamani, Daniel Warren, Ian Craven, Miriam Fanjul-Fernandez, Victoria Rodriguez-Casero, Paul J Lockhart, Adeline Vanderver, Cas Simons, Susan Gibb, Simon Sadedin, Susan M White, John Christodoulou, Olga Skibina, Jonathan Ruddle, Tiong Y Tan, et al.

Journal article  |  2019  |  Human Mutation

A Neuroethics Framework for the Australian Brain Initiative

Adrian Carter, Linda J Richards

Journal article  |  2019  |  NEURON

Teaching NeuroImages: Cerebral inception A "brain" within a brain

Emma Macdonald-Laurs, Richard J Leventer, Rakesh Patel

Journal article  |  2019  |  Neurology

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63

Ashley PL Marsh, Gaia Novarino, Paul J Lockhart, Richard J Leventer

Journal article  |  2019  |  European Journal of Human Genetics

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

CA Stutterd, NJ Lake, H Peters, PJ Lockhart, RJ Taft, MS van der Knaap, A Vanderver, DR Thorburn, C Simons, RJ Leventer

Journal article  |  2019  |  JIMD reports

AIM: To identify the genetic aetiology of a distinct leukoencephalopathy causing acute neurological regression in infancy with app..

SMO Syndrome: A Unifying Molecular Diagnosis That Suggests Therapeutic Opportunities

Barbara Rivera, Somayyeh Fahiminiya, Simon Rabinowitz, A Kevin Waters, Richard Leventer, Mark Levental, Manish Khanna, William D Foulkes

Journal article  |  2018  |  JCO Precision Oncology

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

Adam C O'Neill, Christina Kyrousi, Johannes Klaus, Richard J Leventer, Edwin P Kirk, Andrew Fry, Daniela T Pilz, Tim Morgan, Zandra A Jenkins, Micha Drukker, Samuel F Berkovic, Ingrid E Scheffer, Renzo Guerrini, David M Markie, Magdalena Goetz, Silvia Cappello, Stephen P Robertson

Journal article  |  2018  |  Cell Reports

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway

Chloe Stutterd, George McGillivray, Zornitza Stark, Betty Messazos, Fergus Cameron, Sue White, Ghayda Mirzaa, Richard Leventer

Journal article  |  2018  |  European Journal of Medical Genetics

Novel inflammatory ophthalmological presentations distinct from optic neuritis that are associated with myelin oligodendrocyte glycoprotein antibodies

S Ramanathan, C Fraser, S Curnow, M Ghaly, R Leventer, J Lechner-Scott, A Henderson, S Reddel, R Dale, F Brilot

Conference Proceedings  |  2018  |  MULTIPLE SCLEROSIS JOURNAL

Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial.

Finbar JK O'Callaghan, Stuart W Edwards, Fabienne Dietrich Alber, Mario Cortina Borja, Eleanor Hancock, Anthony L Johnson, Colin R Kennedy, Marcus Likeman, Andrew L Lux, Mark T Mackay, Andrew A Mallick, Richard W Newton, Melinda Nolan, Ronit Pressler, Dietz Rating, Bernhard Schmitt, Christopher M Verity, John P Osborne, undefined International Collaborative Infantile Spasms Study (ICISS) investigators

Journal article  |  2018  |  The Lancet Child & Adolescent Health

BACKGROUND: Infantile spasms constitute a severe form of epileptic encephalopathy. In the International Collaborative Infantile Sp..

Retrospective review of screening for Sturge-Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants with high-risk port-wine stains

Michaela Zallmann, Mark T Mackay, Richard J Leventer, Michael Ditchfield, Philip S Bekhor, John C Su

Journal article  |  2018  |  Pediatric Dermatology

Teaching NeuroImages: Imaging features of DCC-mediated mirror movements and isolated agenesis of the corpus callosum

Timothy J Edwards, Ashley PL Marsh, Paul J Lockhart, Linda J Richards, Richard J Leventer

Journal article  |  2018  |  Neurology

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons

Philip H Iffland, Marianna Baybis, Allan E Barnes, Richard J Leventer, Paul J Lockhart, Peter B Crino

Journal article  |  2018  |  Neurobiology of Disease

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

Michael S Hildebrand, A Simon Harvey, Stephen Malone, John A Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C Jones, Greta Gillies, Kate Pope, Paul J Lockhart, Alexander Dobrovic, Richard J Leventer, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2018  |  Neurology Genetics

A Neuropsychological Profile for Agenesis of the Corpus Callosum? Cognitive, Academic, Executive, Social, and Behavioral Functioning in School-Age Children

Vanessa Siffredi, Vicki Anderson, Alissandra McIlroy, Amanda G Wood, Richard J Leventer, Megan M Spencer-Smith

Journal article  |  2018  |  Journal of the International Neuropsychological Society

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

Erin L Heinzen, Adam C O'Neill, Xiaolin Zhu, Andrew S Allen, Melanie Bahlo, Jamel Chelly, Ming Hui Chen, William B Dobyns, Saskia Freytag, Renzo Guerrini, Richard J Leventer, Annapurna Poduri, Stephen P Robertson, Christopher A Walsh, Mengqi Zhang

Journal article  |  2018  |  PLOS Genetics

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Margot RF Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Maaike Vreeburg, Rob PW Rouhl, Servi JC Stevens, Alexander PA Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric Smeets, Connie TRM Stumpel, Levinus A Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E Chandler, et al.

Journal article  |  2018  |  Journal of Medical Genetics

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans

Ronan V da Silva, Helge C Johannssen, Matthias T Wyss, R Brian Roome, Farin B Bourojeni, Nicolas Stifani, Ashley PL Marsh, Monique M Ryan, Paul J Lockhart, Richard J Leventer, Linda J Richards, Bernard Rosenblatt, Myriam Srour, Bruno Weber, Hanns Ulrich Zeilhofer, Artur Kania

Journal article  |  2018  |  Cell Reports

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies

Zandra A Jenkins, Alison Macharg, Cheng-Yee Chang, Margriet van Kogelenberg, Tim Morgan, Sophia Frentz, Wenhua Wei, Jacek Pilch, Mark Hannibal, Nicola Foulds, George McGillivray, Richard J Leventer, Sixto Garcia-Minaur, Stuart Sugito, Scott Nightingale, David M Markie, Tracy Dudding, Raj P Kapur, Stephen P Robertson

Journal article  |  2018  |  Human Mutation

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

Ashley PL Marsh, Timothy J Edwards, Charles Galea, Helen M Cooper, Elizabeth C Engle, Saumya S Jamuar, Aurelie Meneret, Marie-Laure Moutard, Caroline Nava, Agnes Rastetter, Gail Robinson, Guy Rouleau, Emmanuel Roze, Megan Spencer-Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A Walsh, Timothy W Yu, Delphine Heron, Elliott H Sherr, et al.

Journal article  |  2018  |  Human Mutation

Expanding the neurodevelopmental phenotype of PURA syndrome

Bo Hoon Lee, Margot RF Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, et al.

Journal article  |  2018  |  American Journal of Medical Genetics Part A

Screening for Sturge-Weber syndrome: A state-of-the-art review

Michaela Zallmann, Richard J Leventer, Mark T Mackay, Michael Ditchfield, Philip S Bekhor, John C Su

Journal article  |  2018  |  Pediatric Dermatology

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Valerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, Richard J Leventer, Fabienne Schaller, Elena Parrini, Agathe A Deparis, Francoise Watrin, Emmanuelle Buhler, Francesca Novara, Stefano Lise, Alistair T Pagnamenta, Usha Kini, Jenny C Taylor, Orsetta Zuffardi, Alfonso Represa, David Antony Keays, Renzo Guerrini, Antonio Falace, Carlos Cardoso

Journal article  |  2017  |  Journal of Visualized Experiments

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14

Chloe Stutterd, Peter Diakumis, Melanie Bahlo, Miriam Fanjul Fernandez, Richard J Leventer, Martin Delatycki, David Amor, Chung W Chow, Sarah Stephenson, Miriam H Meisler, Catriona Mclean, Paul J Lockhart

Journal article  |  2017  |  Annals of Clinical and Translational Neurology

Neural correlates of working memory in children and adolescents with agenesis of the corpus callosum: An fMRI study

V Siffredi, MM Spencer-Smith, P Barrouillet, MJ Vaessen, RJ Leventer, V Anderson, P Vuilleumier

Journal article  |  2017  |  Neuropsychologia

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Laura A Adang, Omar Sherbini, Laura Ball, Miriam Bloom, Anil Darbari, Hernan Amartino, Donna DiVito, Florian Eichler, Maria Escolar, Sarah H Evans, Ali Fatemi, Jamie Fraser, Leslie Hollowell, Nicole Jaffe, Christopher Joseph, Mary Karpinski, Stephanie Keller, Ryan Maddock, Edna Mancilla, Bruce McClary, et al.

Journal article  |  2017  |  Molecular Genetics and Metabolism

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations

Mark A Corbett, Samantha J Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J Leventer, Christopher P Derry, Renee Carroll, Thuong Ha, Ingrid E Scheffer, Melanie Bahlo, Graeme D Jackson, David A Mackey, Samuel F Berkovic, Jozef Gecz

Journal article  |  2017  |  European Journal of Medical Genetics

Acute flaccid myelitis in childhood: a retrospective cohort study

EW Andersen, AJ Kornberg, JL Freeman, RJ Leventer, MM Ryan

Journal article  |  2017  |  European Journal of Neurology

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

Konrad Platzer, Hongjie Yuan, Hannah Schuetz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Stromme, Saskia Biskup, Dennis Doecker, et al.

Journal article  |  2017  |  Journal of Medical Genetics

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley PL Marsh, Delphine Heron, Timothy J Edwards, Angelique Quartier, Charles Galea, Caroline Nava, Agnes Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, et al.

Journal article  |  2017  |  Nature Genetics

Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases

Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins, Richard J Leventer, Ingrid E Scheffer

Journal article  |  2017  |  Pediatrics

Hemispheric polymicrogyria and neonatal seizures: a potentially life-threatening combination

Paula M Brna, A Simon Harvey, Richard J Leventer

Journal article  |  2017  |  Epileptic Disorders

A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9

Ashley PL Marsh, Patrick Yap, Tiong Tan, Kate Pope, Susan M White, Belinda Chong, George Mcgillivray, Amber Boys, Sarah EM Stephenson, Richard J Leventer, Zornitza Stark, Paul J Lockhart

Journal article  |  2017  |  American Journal of Medical Genetics Part A

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.

David Coman, Tom Fullston, Cheryl Shoubridge, Richard Leventer, Flora Wong, Simon Nazaretian, Ian Simpson, Josef Gecz, George McGillivray

Journal article  |  2017  |  Child Neurology Open

X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisyste..

Evaluation of non-coding variation in GLUT1 deficiency

Yu-Chi Liu, Jia Wei Audrey Lee, Susannah T Bellows, John A Damiano, Saul A Mullen, Samuel F Berkovic, Melanie Bahlo, Ingrid E Scheffer, Michael S Hildebrand

Journal article  |  2016  |  Developmental Medicine & Child Neurology

Heterozygous mutations in HISD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

David J Amor, Ashley P Marsh, Elsdon Storey, Rick Tankard, Greta Gillies, Martin B Delatycki, Kate Pope, Catherine Bromhead, Richard J Leventer, Melanie Bahlo, Paul J Lockhart

Journal article  |  2016  |  NEUROLOGY-GENETICS

Extraordinary Survival: What Does It Take?

Monica Cooper, Richard Leventer, Lynn Gillam, Katherine Thomson Bowe

Journal article  |  2016  |  Pediatric Neurology

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G Ekert, Christiane Theda, Paul A James, Joy Yaplito-Lee, Monique M Ryan, Richard J Leventer, et al.

Journal article  |  2016  |  Genetics in Medicine

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

Michael S Hildebrand, Nicole G Griffin, John A Damiano, Elisa J Cops, Rosemary Burgess, Ezgi Ozturk, Nigel C Jones, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Lynette G Sadleir, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Andrew S Allen, David B Goldstein, John F Kerrigan, Samuel F Berkovic, Erin L Heinzen

Journal article  |  2016  |  The American Journal of Human Genetics

A Multidisciplinary Perspective on Motor Impairment as an Early Behavioural Marker in Children with Autism Spectrum Disorder

Tamara May, Jennifer McGinley, Anna Murphy, Trina Hinkley, Nicole Papadopoulos, Katrina J Williams, Jane McGillivray, Peter G Enticott, Richard J Leventer, Nicole J Rinehart

Journal article  |  2016  |  AUSTRALIAN PSYCHOLOGIST

Balancing risks and benefits still the key to anti-epileptic prescribing for benign epilepsy with centro-temporal spikes

Monica S Cooper, Richard J Leventer

Journal article  |  2016  |  Journal of Paediatrics and Child Health

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

Barbara Rivera, Tenzin Gayden, Jian Carrot-Zhang, Javad Nadaf, Talia Boshari, Damien Faury, Michele Zeinieh, Romeo Blanc, David L Burk, Somayyeh Fahiminiya, Eric Bareke, Ulrich Schueller, Camelia M Monoranu, Ronald Straeter, Kornelius Kerl, Thomas Niederstadt, Gerhard Kurlemann, Benjamin Ellezam, Zuzanna Michalak, Maria Thom, et al.

Journal article  |  2016  |  Acta Neuropathologica

Rasmussen encephalitis tissue transfer program

Carol A Kruse, Carlos A Pardo, Adam L Hartman, George Jallo, Eileen PG Vining, Joe Voros, William D Gaillard, Judy Liu, Chima Oluigbo, Stephen Malone, Andrew F Bleasel, Mark Dexter, Alex Micati, Tonicarlo R Velasco, Helio R Machado, Anthony M Martino, Adam Huang, BM Wheatley, Gerald A Grant, Tiziana Granata, et al.

Journal article  |  2016  |  Epilepsia

Cerebral palsy is not a diagnosis: A case report of a novel atlastin-1 mutation

Erik W Andersen, Richard J Leventer, Dinah S Reddihough, Mark R Davis, Monique M Ryan

Journal article  |  2016  |  Journal of Paediatrics and Child Health

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 PD Henderson, Steve Vucic, Mark P Gorman, Leslie A Benson, Gulay Alper, Catherine J Riney, Michael Barnett, John DE Parratt, Todd A Hardy, Richard J Leventer, Vera Merheb, Margherita Nosadini, Victor SC Fung, Fabienne Brilot, Russell C Dale

Journal article  |  2016  |  Multiple Sclerosis Journal

Familial Cortical Dysplasia Caused by Mutation in the Mammalian Target of Rapamycin Regulator NPRL3

Joe C Sim, Thomas Scerri, Miriam Fanjul-Fernandez, Jessica R Riseley, Greta Gillies, Kate Pope, Hanna van Roozendaal, Julian I Heng, Simone A Mandelstam, George McGillivray, Duncan MacGregor, Lakshminarayanan Kannan, Wirginia Maixner, A Simon Harvey, David J Amor, Martin B Delatycki, Peter B Crino, Melanie Bahlo, Paul J Lockhart, Richard J Leventer

Journal article  |  2016  |  Annals of Neurology

The histopathology of polymicrogyria: a series of 71 brain autopsy studies

Anna C Jansen, Yves Robitaille, Mrinalini Honavar, Nandini Mullatti, Richard J Leventer, Eva Andermann, Frederick Andermann, Waney Squier

Journal article  |  2016  |  Developmental Medicine & Child Neurology

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

John A Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen L Oliver, Hans-Henrik M Dahl, A Eliot Shearer, Richard JH Smith, Nathan E Hall, Khalid Mahmood, Richard J Leventer, Ingrid E Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D Korczyn, Harald Herrmann, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2015  |  Human Molecular Genetics

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

Ashley PL Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard, Monique M Ryan, Eppie M Yiu, Joe CH Sim, Martin B Delarycki, David J Amor, George McGillivray, Elliott H Sherr, Melanie Bahlo, Richard J Leventer, Paul J Lockhart

Journal article  |  2015  |  NEUROLOGY-GENETICS

Epileptic spasms are a feature of DEPDC5 mTORopathy

Gemma L Carvill, Douglas E Crompton, Brigid M Regan, Jacinta M McMahon, Julia Saykally, Matthew Zemel, Amy L Schneider, Leanne Dibbens, Katherine B Howell, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Saul A Mullen, Samuel F Berkovic, Joseph Sullivan, Ingrid E Scheffer, Heather C Mefford

Journal article  |  2015  |  Neurology Genetics

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, et al.

Journal article  |  2015  |  PLOS ONE

The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia

A Simon Harvey, Simone A Mandelstam, Wirginia J Maixner, Richard J Leventer, Mira Semmelroch, Duncan MacGregor, Renate M Kalnins, Yuliya Perchyonok, Gregory J Fitt, Sarah Barton, Michael J Kean, Gavin CA Fabinyi, Graeme D Jackson

Journal article  |  2015  |  Neurology

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

Richard J Leventer, Thomas Scerri, Ashley PL Marsh, Kate Pope, Greta Gillies, Wirginia Maixner, Duncan MacGregor, A Simon Harvey, Martin B Delatycki, David J Amor, Peter Crino, Melanie Bahlo, Paul J Lockhart

Journal article  |  2015  |  Neurology

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Gemma L Carvill, Jacinta M McMahon, Amy Schneider, Matthew Zemel, Candace T Myers, Julia Saykally, John Nguyen, Angela Robbiano, Federico Zara, Nicola Specchio, Oriano Mecarelli, Robert L Smith, Richard J Leventer, Rikke S Moller, Marina Nikanorova, Petia Dimova, Albena Jordanova, Steven Petrou, Ingo Helbig, Pasquale Striano, et al.

Journal article  |  2015  |  The American Journal of Human Genetics

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Isabel Marques, Maria Joao sa, Gabriela Soares, Maria do Ceu Mota, Carla Pinheiro, Lisa Aguiar, Marta Amado, Christina Soares, Angelina Calado, Patricia Dias, Ana Berta Sousa, Ana Maria Fortuna, Rosario Santos, Katherine B Howell, Monique M Ryan, Richard J Leventer, Rani Sachdev, Rachael Catford, Kathryn Friend, Tessa R Mattiske, et al.

Journal article  |  2015  |  Molecular Genetics & Genomic Medicine

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

Thomas Scerri, Jessica R Riseley, Greta Gillies, Kate Pope, Rosemary Burgess, Simone A Mandelstam, Leanne Dibbens, Chung W Chow, Wirginia Maixner, Anthony Simon Harvey, Graeme D Jackson, David J Amor, Martin B Delatycki, Peter B Crino, Samuel F Berkovic, Ingrid E Scheffer, Melanie Bahlo, Paul J Lockhart, Richard J Leventer

Journal article  |  2015  |  ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Sumit Parikh, Genevieve Bernard, Richard J Leventer, Marjo S van der Knaap, Johan van Hove, Amy Pizzino, Nathan H McNeill, Guy Helman, Cas Simons, Johanna L Schmidt, William B Rizzo, Marc C Patterson, Ryan J Taft, Adeline Vanderver

Journal article  |  2015  |  Molecular Genetics and Metabolism

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

Nicole I Wolf, Camilo Toro, Ilya Kister, Kartikasalwah Abd Latif, Richard Leventer, Amy Pizzino, Cas Simons, Truus EM Abbink, Ryan J Taft, Marjo S van der Knaap, Adeline Vanderver

Journal article  |  2015  |  Neurology

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology

Gabrielle R Wilson, Joe CH Sim, Catriona McLean, Maila Giannandrea, Charles A Galea, Jessica R Riseley, Sarah EM Stephenson, Elizabeth Fitzpatrick, Stefan A Haas, Kate Pope, Kirk J Hogan, Ronald G Gregg, Catherine J Bromhead, David S Wargowski, Christopher H Lawrence, Paul A James, Andrew Churchyard, Yujing Gao, Dean G Phelan, Greta Gillies, et al.

Journal article  |  2014  |  The American Journal of Human Genetics

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

David Hunt, Richard J Leventer, Cas Simons, Ryan Taft, Kathryn J Swoboda, Mary Gawne-Cain, Alex C Magee, Peter D Turnpenny, Diana Baralle

Journal article  |  2014  |  Journal of Medical Genetics

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Davor Lessel, Bruno Vaz, Swagata Halder, Paul J Lockhart, Ivana Marinovic-Terzic, Jaime Lopez-Mosqueda, Melanie Philipp, Joe CH Sim, Katherine R Smith, Judith Oehler, Elisa Cabrera, Raimundo Freire, Kate Pope, Amsha Nahid, Fiona Norris, Richard J Leventer, Martin B Delatycki, Gotthold Barbi, Simon von Ameln, Josef Hoegel, et al.

Journal article  |  2014  |  Nature Genetics

Somatic Mutations in Cerebral Cortical Malformations

Saumya S 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 Topcu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E Scheffer, Samuel F Berkovic, et al.

Journal article  |  2014  |  New England Journal of Medicine

Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy

Katherine R Smith, Richard J Leventer, Mark T Mackay, Kate Pope, Greta Gillies, Martin B Delatycki, David J Amor, Melanie Bahlo, Paul J Lockhart

Journal article  |  2014  |  International Journal of Stroke

Polymicrogyria: A common and heterogeneous malformation of cortical development

Chloe A Stutterd, Richard J Leventer

Journal article  |  2014  |  American Journal of Medical Genetics. Part C: Seminars in Medical Genetics

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Gabrielle R Wilson, Jasmine Sunley, Katherine R Smith, Kate Pope, Catherine J Bromhead, Elizabeth Fitzpatrick, Maja Di Rocco, Maurice van Steensel, David J Coman, Richard J Leventer, Martin B Delatycki, David J Amor, Melanie Bahlo, Paul J Lockhart

Journal article  |  2014  |  European Journal of Human Genetics

Predicting neurocognitive and behavioural outcome after early brain insult

Vicki A Anderson, Megan M Spencer-Smith, Lee Coleman, Peter J Anderson, Mardee Greenham, Rani Jacobs, Katherine J Lee, Richard J Leventer

Journal article  |  2014  |  Developmental Medicine and Child Neurology

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Joe CH Sim, Susan M White, Elizabeth Fitzpatrick, Gabrielle R Wilson, Greta Gillies, Kate Pope, Hayley S Mountford, Pernille M Torring, Shane Mckee, Anneke T Vulto-van Silfhout, Shalini N Jhangiani, Donna M Muzny, Richard J Leventer, Martin B Delatycki, David J Amor, Paul J Lockhart

Journal article  |  2014  |  Orphanet Journal of Rare Diseases

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility

Richard J Leventer, Floor E Jansen, Simone A Mandelstam, Alice Ho, Ismail Mohamed, Harvey B Sarnat, Mitsuhiro Kato, Tatsuya Fukasawa, Hirotomo Saitsu, Naomichi Matsumoto, Masayuki Itoh, Renate M Kalnins, Chung W Chow, A Simon Harvey, Graeme D Jackson, Peter B Crino, Samuel F Berkovic, Ingrid E Scheffer

Journal article  |  2014  |  Epilepsia

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Karma Tuz, Ruxandra Bachmann-Gagescu, Diana R O'Day, Kiet Hua, Christine R Isabella, Ian G Phelps, Allan E Stolarski, Brian J O'Roak, Jennifer C Dempsey, Charles Lourenco, Abdulrahman Alswaid, Carsten G Boennemann, Livija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J Leventer, Meral Topcu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, et al.

Journal article  |  2014  |  American Journal of Human Genetics

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Valerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, Elena Parrini, Richard J Leventer, Emmanuelle Buhler, George McGillivray, Francois J Michel, Pasquale Striano, Davide Mei, Francoise Watrin, Stefano Lise, Alistair T Pagnamenta, Jenny C Taylor, Usha Kini, Jill Clayton-Smith, Francesca Novara, Orsetta Zuffardi, William B Dobyns, Ingrid E Scheffer, et al.

Journal article  |  2013  |  Brain

High resolution chromosomal microarray in undiagnosed neurological disorders

Katherine B Howell, Andrew J Kornberg, A Simon Harvey, Monique M Ryan, Mark T Mackay, Jeremy L Freeman, M Victoria Rodriguez Casero, Kevin J Collins, Michael Hayman, Ahmad Mohamed, Tyson L Ware, Damian Clark, Damien L Bruno, Trent Burgess, Howard Slater, George McGillivray, Richard J Leventer

Journal article  |  2013  |  Journal of Paediatrics and Child Health

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Ryan J Taft, Adeline Vanderver, Richard J Leventer, Stephen A Damiani, Cas Simons, Sean M Grimmond, David Miller, Johanna Schmidt, Paul J Lockhart, Kate Pope, Kelin Ru, Joanna Crawford, Tena Rosser, Irenaeus FM de Coo, Monica Juneja, Ishwar C Verma, Prab Prabhakar, Susan Blaser, Julian Raiman, Petra JW Pouwels, et al.

Journal article  |  2013  |  American Journal of Human Genetics

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

Eyal Reinstein, Sophia Frentz, Tim Morgan, Sixto Garcia-Minaur, Richard J Leventer, George McGillivray, Mitchel Pariani, Anthony van der Steen, Michael Pope, Muriel Holder-Espinasse, Richard Scott, Elizabeth M Thompson, Terry Robertson, Brian Coppin, Robert Siegel, Montserrat Bret Zurita, Jose I Rodriguez, Carmen Morales, Yuri Rodrigues, Joaquin Arcas, et al.

Journal article  |  2013  |  European Journal of Human Genetics

Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities

SA Mandelstam, RJ Leventer, A Sandow, G McGillivray, M van Kogelenberg, R Guerrini, S Robertson, SF Berkovic, GD Jackson, IE Scheffer

Journal article  |  2013  |  AMERICAN JOURNAL OF NEURORADIOLOGY

Neuropsychological Profile of Agenesis of the Corpus Callosum: A Systematic Review

Vanessa Siffredi, Vicki Anderson, Richard J Leventer, Megan M Spencer-Smith

Journal article  |  2013  |  Developmental Neuropsychology

Benign Neonatal Sleep Myoclonus: An Autosomal Dominant Form Not Allelic to KCNQ2 or KCNQ3

Zaid Afawi, Haim Bassan, Sarah Heron, Karen Oliver, Rachel Straussberg, Ingrid Scheffer, Richard Leventer, Amos Korczyn, Samuel Berkovic

Journal article  |  2012  |  Journal of Child Neurology

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

Tiziana Pisano, A James Barkovich, Richard J Leventer, Waney Squier, Ingrid E Scheffer, Elena Parrini, Susan Blaser, Carla Marini, Stephen Robertson, Gaetano Tortorella, Felix Rosenow, Pierre Thomas, George McGillivray, Eva Andermann, Frederick Andermann, Samuel F Berkovic, William B Dobyns, Renzo Guerrini

Journal article  |  2012  |  Neurology

Methemoglobin Reductase Deficiency: Novel Mutation Is Associated With a Disease Phenotype of Intermediate Severity

Melanie J Percy, Chris Barnes, Gemma Crighton, Richard J Leventer, Robert Wynn, Terence R Lappin

Journal article  |  2012  |  Journal of Pediatric Hematology Oncology

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations

Daniel Carranza Rojo, A Simon Harvey, Xenia Iona, Leanne M Dibbens, John A Damiano, Todor Arsov, Deepak Gill, Jeremy L Freeman, Richard J Leventer, Angela Vincent, Samuel F Berkovic, Jacinta M McMahon, Ingrid E Scheffer

Journal article  |  2012  |  Epilepsy Research

Phenotypic Variability of Distal 22q11.2 Copy Number Abnormalities

Tiong Yang Tan, Amanda Collins, Paul A James, George McGillivray, Zornitza Stark, Christopher T Gordon, Richard J Leventer, Kate Pope, Robin Forbes, John A Crolla, Devika Ganesamoorthy, Trent Burgess, Damien L Bruno, Howard R Slater, Peter G Farlie, David J Amor

Journal article  |  2011  |  American Journal of Medical Genetics. Part A

Executive Function Following Child Stroke: The Impact of Lesion Location

Brian Long, Megan M Spencer-Smith, Rani Jacobs, Mark Mackay, Richard Leventer, Chris Barnes, Vicki Anderson

Journal article  |  2011  |  Journal of Child Neurology

Detection of Epileptogenic Cortical Malformations with Surface-Based MRI Morphometry

Thomas Thesen, Brian T Quinn, Chad Carlson, Orrin Devinsky, Jonathan DuBois, Carrie R McDonald, Jacqueline French, Richard Leventer, Olga Felsovalyi, Xiuyuan Wang, Eric Halgren, Ruben Kuzniecky

Journal article  |  2011  |  PLoS One

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

Katherine R Smith, Catherine J Bromhead, Michael S Hildebrand, A Eliot Shearer, Paul J Lockhart, Hossein Najmabadi, Richard J Leventer, George McGillivray, David J Amor, Richard J Smith, Melanie Bahlo

Journal article  |  2011  |  Genome Biology

Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria

Kate M Lawrence, Davide Mei, Mark R Newton, Richard J Leventer, Renzo Guerrini, Samuel F Berkovic

Journal article  |  2010  |  Epilepsia

Does Early Age at Brain Insult Predict Worse Outcome? Neuropsychological Implications

Vicki Anderson, Rani Jacobs, Megan Spencer-Smith, Lee Coleman, Peter Anderson, Jackie Williams, Mardee Greenham, Rick Leventer

Journal article  |  2010  |  Journal of Pediatric Psychology

Children's executive functions: Are they poorer after very early brain insult

Vicki Anderson, Megan Spencer-Smith, Lee Coleman, Peter Anderson, Jackie Williams, Mardee Greenham, Richard J Leventer, Rani Jacobs

Journal article  |  2010  |  Neuropsychologia

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

Richard J Leventer, Anna Jansen, Daniela T Pilz, Neil Stoodley, Carla Marini, Francois Dubeau, Jodie Malone, L Anne Mitchell, Simone Mandelstam, Ingrid E Scheffer, Samuel F Berkovic, Frederick Andermann, Eva Andermann, Renzo Guerrini, William B Dobyns

Journal article  |  2010  |  Brain

LIS1 and DCX MLPA Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia

Martin B Delatycki, Richard J Leventer

Journal article  |  2009  |  European Journal of Human Genetics

Childhood brain insult: can age at insult help us predict outcome

Vicki Anderson, Megan Spencer-Smith, Rick Leventer, Lee Coleman, Peter Anderson, Jackie Williams, Mardee Greenham, Rani Jacobs

Journal article  |  2009  |  Brain

No major role for the EMX2 gene in schizencephaly

Elisa Merello, Eric Swanson, Patrizia De Marco, Murtaza Akhter, Pasquale Striano, Andrea Rossi, Armando Cama, Richard J Leventer, Renzo Guerrini, Valeria Capra, William B Dobyns

Journal article  |  2008  |  American Journal of Medical Genetics

Concomitant transverse myelitis and acute motor axonal neuropathy in an adolescent

Katherine B Howell, Jithangi Wanigasinghe, Richard J Leventer, Monique M Ryan

Journal article  |  2007  |  Pediatric Neurology

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Nathaniel H Robin, Clare J Taylor, Donna M McDonald-McGinn, Elaine H Zackai, Peter Bingham, Kevin J Collins, Dawn Earl, Deepak Gill, Tiziana Granata, Renzo Guerrini, Naomi Katz, Virginia Kimonis, Jean-Pierre Lin, David R Lynch, Shehla N Mohammed, Roger F Massey, Marie McDonald, R Curtis Rogers, Miranda Splitt, Cathy A Stevens, et al.

Journal article  |  2006  |  American Journal of Medical Genetics

LIS1: from cortical malformation to essential protein of cellular dynamics

RJ Leventer, C Cardoso, DH Ledbetter, WB Dobyns

Journal article  |  2001  |  Trends in Neurosciences

LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ

RJ Leventer, C Cardoso, DH Ledbetter, WB Dobyns

Journal article  |  2001  |  Neurology

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

N Matsumoto, RJ Leventer, JA Kuc, SK Mewborn, LL Dudlicek, MB Ramocki, DT Pilz, PL Mills, S Das, ME Ross, DH Ledbetter, WB Dobyns

Journal article  |  2001  |  European Journal of Human Genetics