R. Leventer

D. Lev, A. Fink, M. Severino, 2021, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

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

D. Lev, W. Dobyns, L. Ben‐Sira, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of-Sulcus Dysplasia

Aaron E. L. Warren, G. Jackson, M. Kean, 2021, Neurology.

W. Dobyns, K. Aldinger, M. Shroff, 2021, American Journal of Neuroradiology.

International consensus recommendations on the diagnostic work-up for malformations of cortical development

E. Aronica, O. Reiner, L. M. Valor, 2020, Nature Reviews Neurology.

Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy

P. Lockhart, G. Jackson, A. Harvey, 2020, Neurology.

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

R. Leventer, M. Cooper, Monica S. Cooper, 2016, Journal of paediatrics and child health.

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

P. Lockhart, A. Harvey, H. Adle-Biassette, 2021, Annals of clinical and translational neurology.

Malformations of Cortical Development

W. Dobyns, R. Guerrini, R. Leventer, 2017 .

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

P. Lockhart, P. Crino, W. Maixner, 2015, Neurology.

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

D. Reddihough, M. Ryan, R. Leventer, 2016, Journal of paediatrics and child health.

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

P. Lockhart, L. Richards, C. Depienne, 2020, Developmental medicine and child neurology.

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

S. Robertson, M. Hannibal, J. Pilch, 2018, Human mutation.

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

E. Zackai, S. Robertson, J. Graham, 2012, European Journal of Human Genetics.

Periventricular nodular heterotopia with overlying polymicrogyria.

F. Dubeau, W. Dobyns, E. Andermann, 2005, Brain : a journal of neurology.

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

I. Scheffer, F. Dubeau, F. Andermann, 2010, Brain : a journal of neurology.

Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy

Katherine R. Smith, P. Lockhart, M. Mackay, 2014, International journal of stroke : official journal of the International Stroke Society.

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

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

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

A. Vanderver, R. Taft, C. Toro, 2015, Neurology.

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

P. Lockhart, M. Bahlo, M. Meisler, 2017, Annals of clinical and translational neurology.

Concomitant transverse myelitis and acute motor axonal neuropathy in an adolescent.

M. Ryan, J. Wanigasinghe, K. Howell, 2007, Pediatric neurology.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations

Ethan M. Goldberg, Zara, Silvana, 2021 .

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

Kate M. Lawrence, M. Newton, S. Berkovic, 2010, Epilepsia.

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia

F. Wong, C. Shoubridge, G. McGillivray, 2017, Child neurology open.

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

L. Shaffer, E. Zackai, S. Christian, 2008, American journal of medical genetics. Part A.

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

I. Scheffer, M. Mackay, R. Kalnins, 2017, Pediatrics.

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

P. Lockhart, M. Baybis, P. Crino, 2018, Neurobiology of Disease.

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

P. Lockhart, A. Durr, E. Storey, 2022, Annals of neurology.

Cerebellar cleft: a form of prenatal cerebellar disruption.

F. Cowan, M. Rutherford, A. Poretti, 2008, Neuropediatrics.

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

A. Pagnamenta, A. Represa, Jenny C. Taylor, 2017, Journal of visualized experiments : JoVE.

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

M. Mackay, M. Ditchfield, John C. Su, 2018, Pediatric dermatology.

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

M. Mackay, M. Ditchfield, John C. Su, 2018, Pediatric dermatology.

Acute flaccid myelitis in childhood: a retrospective cohort study

A. Kornberg, M. Ryan, J. Freeman, 2017, European journal of neurology.

SMO Syndrome: A Unifying Molecular Diagnosis That Suggests Therapeutic Opportunities.

W. Foulkes, M. Levental, M. Khanna, 2018, JCO precision oncology.

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

Timothy J. Edwards, P. Lockhart, L. Richards, 2017, Nature Genetics.

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

I. Scheffer, S. Robertson, D. Pilz, 2022, American Journal of Neuroradiology.

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

P. Lockhart, I. Scheffer, S. Berkovic, 2018, Neurology: Genetics.

Rituximab monitoring and redosing in pediatric neuromyelitis optica spectrum disorder

M. Nolan, B. Banwell, R. Appleton, 2016, Neurology: Neuroimmunology & Neuroinflammation.

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

Renzo Guerrini, William B Dobyns, Dawn Earl, 2006, American journal of medical genetics. Part A.

Malformations of cortical development and epilepsy

Renzo Guerrini, William B. Dobyns, W. Dobyns, 2008, Dialogues in clinical neuroscience.

Neuropsychological profile of children with subcortical band heterotopia

M. Spencer-Smith, V. Anderson, R. Jacobs, 2009, Developmental medicine and child neurology.

Clonally Focused Public and Private T Cells in Resected Brain Tissue From Surgeries to Treat Children With Intractable Seizures

P. Lockhart, Julia W. Chang, G. Mathern, 2021, Frontiers in Immunology.

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

C. Fraser, R. Dale, S. Ramanathan, 2019, European journal of neurology.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

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

G. Carvill, I. Scheffer, H. Mefford, 2015, American journal of human genetics.

14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome

D. Ledbetter, L. Tsai, A. Wynshaw-Boris, 2003, Nature Genetics.

Polymicrogyria: A common and heterogeneous malformation of cortical development

C. Stutterd, R. Leventer, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

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

I. Scheffer, D. Goldstein, A. Allen, 2016, American journal of human genetics.

Defining the phenotypical spectrum associated with variants in TUBB2A

D. Wieczorek, I. Krägeloh-Mann, G. Mancini, 2020, Journal of Medical Genetics.

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

F. Eichler, A. Vanderver, A. Fatemi, 2017, Molecular genetics and metabolism.

A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder.

Katrina Jane Williams, M. Seal, D. Amor, 2021, Journal of child psychology and psychiatry, and allied disciplines.

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

Diana Baralle, David Hunt, Peter D Turnpenny, 2014, Journal of Medical Genetics.

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

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

David T. W. Jones, P. Lockhart, C. Greenwood, 2016, Acta Neuropathologica.

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.

D. Ledbetter, C. Martin, J. Allanson, 2003, American journal of human genetics.

Phenotypic variability of distal 22q11.2 copy number abnormalities

J. Crolla, A. Collins, Z. Stark, 2011, American journal of medical genetics. Part A.

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

W. Klonowski, L. Nguyen, Mercedes F. Paredes, 2019, Front. Cell. Neurosci..

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

Melanie Bahlo, Katherine R. Smith, P. Lockhart, 2011, Genome Biology.

High resolution chromosomal microarray in undiagnosed neurological disorders

M. Mackay, A. Kornberg, M. Ryan, 2013, Journal of paediatrics and child health.

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

I. Scheffer, S. Robertson, M. Götz, 2018, Cell reports.

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

C. Walsh, A. Allen, S. Robertson, 2018, PLoS genetics.

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis

P. Lockhart, S. Baulac, R. Leventer, 2022, International journal of molecular sciences.

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

P. Lockhart, I. Scheffer, S. Berkovic, 2019, Annals of clinical and translational neurology.

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

I. Scheffer, S. Berkovic, A. Harvey, 2012, Epilepsy Research.

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

P. Lockhart, A. Kania, B. Weber, 2018, Cell reports.

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

I. Scheffer, A. Pagnamenta, F. Michel, 2013, Brain : a journal of neurology.

Periventricular heterotopia in 6 q terminal deletion syndrome : role of the C 6 orf 70 gene

I. Scheffer, A. Pagnamenta, F. Michel, 2013 .

Somatic mutations in cerebral cortical malformations.

J. Shendure, I. Scheffer, C. Walsh, 2014, The New England journal of medicine.

Dysmorphic neuron density is highest in the centre of epileptogenic cortical tubers

P. Lockhart, S. Petrou, S. Barton, 2019, bioRxiv.

Dysmorphic neuron density underlies intrinsic epileptogenicity of the centre of cortical tubers

P. Lockhart, S. Petrou, S. Barton, 2019 .

Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.

A. Bankier, D. Amor, R. Leventer, 2000, American journal of medical genetics.

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

P. Lockhart, M. Bahlo, M. Delatycki, 2015, Neurology: Genetics.

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

Sahar Mansour, Dierk Niessing, James J Dowling, 2017, Journal of Medical Genetics.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

R. Pfundt, P. Lockhart, S. Mundlos, 2019, American journal of human genetics.

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

I. Scheffer, J. Gécz, G. Jackson, 2017, European journal of medical genetics.

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

A. V. Vulto-van Silfhout, P. Lockhart, D. Muzny, 2014, Orphanet Journal of Rare Diseases.

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Katherine R. Smith, P. Lockhart, M. Bahlo, 2013, European Journal of Human Genetics.

DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation

Timothy J. Edwards, Laura R. Fenlon, P. Lockhart, 2021, eLife.

The DCC receptor regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation

Timothy J. Edwards, Laura R. Fenlon, P. Lockhart, 2020, bioRxiv.

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

Ryan J Taft, Adeline Vanderver, Geneviève Bernard, 2015, Molecular genetics and metabolism.

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

P. Lockhart, E. Storey, M. Bahlo, 2016, Neurology: Genetics.

Definitions and classification of malformations of cortical development: practical guidelines

W. Klonowski, M. Lequin, G. Mancini, 2020, Brain : a journal of neurology.

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

P. Lockhart, I. Scheffer, H. Mefford, 2020, Neuron.

EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia

M. Lequin, G. Mancini, S. Mandelstam, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

P. Lockhart, I. Scheffer, J. Gécz, 2023, American journal of human genetics.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

P. Lockhart, A. Vanderver, S. Grimmond, 2013, American journal of human genetics.

Speech, Language, and Oromotor Skills in Patients With Polymicrogyria

I. Scheffer, A. Morgan, C. Stutterd, 2021, Neurology.

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

M. Spencer-Smith, V. Anderson, R. Leventer, 2013, Developmental neuropsychology.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

Cerebral hypomyelination associated with biallelic variants of FIG4

P. Lockhart, A. Vanderver, M. Meisler, 2019, Human mutation.

M. Reijnders, D. Baralle, P. Selber, 1993 .

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

P. Lockhart, P. Crino, M. Bahlo, 2015, Annals of neurology.

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility

I. Scheffer, G. Jackson, P. Crino, 2014, Epilepsia.

Benign Neonatal Sleep Myoclonus

I. Scheffer, S. Berkovic, A. Korczyn, 2012, Journal of child neurology.

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.

J. Shendure, B. O’Roak, C. Haldeman-Englert, 2014, American journal of human genetics.

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations

P. Lockhart, M. Bahlo, E. Janus, 2021, American journal of medical genetics. Part A.

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

K. Friend, A. Fortuna, C. Shoubridge, 2015, Molecular genetics & genomic medicine.

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

P. Lockhart, I. Scheffer, R. Lister, 2021, Brain communications.

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

Matthew T. Sweney, J. Roach, D. Galas, 2015, PLoS ONE.

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

Jared C. Roach, Gustavo Glusman, Fengfeng Zhou, 2015, PloS one.

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

J. Gécz, Changlian Zhu, L. Pérez-Jurado, 2019, Journal of child neurology.

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

G. Jackson, M. Kean, R. Kalnins, 2015, Neurology.

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

M. Delatycki, M. Ryan, R. Leventer, 2019, Clinical genetics.

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

A. Vanderver, C. Stutterd, J. Freeman, 2019, JIMD reports.

Biloma and resulting biliary fistula complicating the non-operative care of a child with blunt liver trauma

R. Scorpio, R. Leventer, Russell G. Taylor, 1994, Pediatric Surgery International.

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

I. Scheffer, S. Berkovic, A. Korczyn, 2015, Human molecular genetics.

Epilepsy with Early Ataxia

S. Berkovic, A. Korczyn, M. Bahlo, 2015 .

Bilateral generalized polymicrogyria (BGP)

A J Barkovich, I. Scheffer, C. Walsh, 2004, Neurology.

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

D. Ledbetter, D. Pilz, W. Dobyns, 2000, Human molecular genetics.

Executive Function Following Child Stroke: The Impact of Lesion Location

M. Mackay, M. Spencer-Smith, V. Anderson, 2011, Journal of child neurology.

Detection of Epileptogenic Cortical Malformations with Surface-Based MRI Morphometry

Orrin Devinsky, Thomas Thesen, Eric Halgren, 2011, PloS one.

Executive Function Following Child Stroke: The Impact of Lesion Size

M. Mackay, M. Spencer-Smith, V. Anderson, 2011, Developmental neuropsychology.

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

M. Honavar, F. Andermann, E. Andermann, 2016, Developmental medicine and child neurology.

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

P. Lockhart, I. Scheffer, G. Jackson, 2015, Annals of clinical and translational neurology.

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

M. Percy, R. Leventer, T. Lappin, 2012, Journal of pediatric hematology/oncology.

Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis

V. Fung, M. Barnett, E. Tantsis, 2016, Multiple sclerosis.

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

A. Harvey, R. Leventer, P. Brna, 2017, Epileptic disorders : international epilepsy journal with videotape.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

S. Mehta, Y. Crow, D. Clifford, 2020, American journal of medical genetics. Part A.

A locus for bilateral perisylvian polymicrogyria maps to Xq28.

C. Martin, J. Graham, R. Winter, 2002, American journal of human genetics.

X-linked malformations of cortical development.

W. Dobyns, R. Leventer, W B Dobyns, 2000, American journal of medical genetics.

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

I. Scheffer, H. Mefford, M. Bahlo, 2023, Epilepsia.

Magnetic resonance imaging features of lissencephaly in 2 Lhasa Apsos.

D. Thrall, R. Leventer, A. de Lahunta, 2002, Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association.

Intellectual Disability and Early-Onset Parkinson Disease with a-Synuclein Pathology

P. Lockhart, S. Haas, K. Hogan, 2014 .

Pontine Tegmental Cap Dysplasia: MR Imaging and Diffusion Tensor Imaging Features of Impaired Axonal Navigation

R. Hevner, A. Barkovich, D. Shaw, 2008, American Journal of Neuroradiology.

Resection of tuber centers only for seizure control in tuberous sclerosis complex

P. Lockhart, S. Barton, A. Harvey, 2021, Epilepsy Research.

Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations

P. Lockhart, C. Stutterd, A. Jansen, 2020, Journal of child neurology.

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

I. Scheffer, M. Mackay, S. Berkovic, 2019, Epilepsia open.

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

I. Scheffer, S. Robertson, F. Andermann, 2012, Neurology.

Guillain–Barré syndrome with optic neuritis

M. Ryan, R. Leventer, E. Andersen, 2021, Journal of Paediatrics and Child Health.

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

P. Lockhart, I. Scheffer, J. Motelow, 2022, Human molecular genetics.

Topical Review: Genotype-Phenotype Correlation in Lissencephaly and Subcortical Band Heterotopia: The Key Questions Answered

R. Leventer, 2004, Journal of child neurology.

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

D. Ledbetter, W. Dobyns, R. Leventer, 2001, Neurology.

Topical Review: Genotype-Phenotype Correlation in Lissencephaly and Subcortical Band Heterotopia: The Key Questions Answered

R. Leventer, 2004 .

Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort

A. Kornberg, R. Dale, E. Yiu, 2020, Journal of child neurology.

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

C. Walsh, Ming-Hui Chen, S. Robertson, 2005, Neurology.

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

K. Bhatia, D. Lev, W. Dobyns, 2020, American journal of medical genetics. Part A.

Intrinsic and secondary epileptogenicity in focal cortical dysplasia type II

Aaron E. L. Warren, P. Lockhart, J. Yang, 2022, Epilepsia.

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63

P. Lockhart, G. Novarino, R. Leventer, 2018, European Journal of Human Genetics.

Revisiting brain rewiring and plasticity in children born without corpus callosum

D. Van de Ville, A. Wood, M. Spencer-Smith, 2021, Developmental science.

Rasmussen encephalitis tissue transfer program

P. Lockhart, M. Smyth, C. Cepeda, 2016, Epilepsia.

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

I. Scheffer, S. Berkovic, R. Guerrini, 2013, American Journal of Neuroradiology.

Expanding the neurodevelopmental phenotype of PURA syndrome

M. Reijnders, D. Baralle, L. Bennetto, 2018, American journal of medical genetics. Part A.

Stroke and fibromuscular dysplasia: confirmation by renal magnetic resonance angiography.

M. Kean, A. Kornberg, L. Coleman, 1998, Pediatric Neurology.

D.O.2 Microarray testing for developmental delay reveals an expanded clinical spectrum of dystrophinopathies

N. Laing, N. Clarke, M. Ryan, 2012, Neuromuscular Disorders.

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

P. Lockhart, A. Vanderver, R. Taft, 2019, JIMD reports.

Early Magnetic Resonance Imaging Findings in Menkes' Disease

M. Kean, A. Kornberg, E. Phelan, 1997, Journal of child neurology.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

I. Scheffer, J. Gécz, L. Richards, 2023, Genes.

RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

T. Sanger, E. Bertini, M. Koenig, 2008, Clinical genetics.

A familial syndrome of unilateral polymicrogyria affecting the right hemisphere

C. Walsh, J. Cross, K. Valente, 2006, Neurology.

Malformations of cortical development and epilepsy.

A. Barkovich, W. Dobyns, R. Guerrini, 2015, Cold Spring Harbor perspectives in medicine.

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

Matthew T. Sweney, J. Roach, D. Galas, 2015, PloS one.

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

P. Lockhart, C. Stutterd, D. Francis, 2020, European journal of medical genetics.

Malformations of Cortical Development

W. Dobyns, R. Guerrini, R. Leventer, 2017 .

Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination

S. Broadley, A. Kermode, D. Wakefield, 2019, Acta Neuropathologica Communications.

Structural neuroplastic responses preserve functional connectivity and neurobehavioural outcomes in children born without corpus callosum

D. Van de Ville, A. Wood, M. Spencer-Smith, 2020, medRxiv.

Clinical seizure manifestations in the absence of synaptic connections.

P. Lockhart, S. Barton, A. Harvey, 2021, Epileptic disorders : international epilepsy journal with videotape.

Rituximab monitoring and redosing in pediatric neuromyelitis optica spectrum disorder

M. Nolan, B. Banwell, R. Appleton, 2016, Neurology: Neuroimmunology & Neuroinflammation.

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations

S. Mohammad, R. Leventer, K. Bozaoglu, 2024, Brain communications.

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing

P. Lockhart, C. Stutterd, M. Delatycki, 2020, Brain communications.

Why did my seizures start now? Influences of lesion connectivity and genetic etiology on age at seizure onset in focal epilepsy

R. Leventer, Emma Macdonald-Laurs, Aaron E. L. Warren, 2024, Epilepsia.

Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies

R. Leventer, Daniz Kooshavar, Paulo Pinares-Garcia, 2024, Neurology. Genetics.

No major role for the EMX2 gene in schizencephaly

P. Striano, W. Dobyns, E. Merello, 2008, American journal of medical genetics. Part A.