J. Gleeson

J. Gleeson, H. El-Bassyouni, M. Zaki, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

An AKT3-FOXG1-Reelin Network Underlies Defective Migration in Human Focal Malformations of Cortical Development

G. Mathern, Hoon-Chul Kang, J. Gleeson, 2015, Nature Medicine.

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

S. Gabriel, V. Bafna, G. Mathern, 2012, Nature Genetics.

Expanding CEP290 mutational spectrum in ciliopathies

E. Bertini, F. Brancati, E. Valente, 2009, American journal of medical genetics. Part A.

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Anason S. Halees, S. Gabriel, A. Clark, 2016, Nature Genetics.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Corinne Stoetzel, Richard A. Lewis, Colin A. Johnson, 2012, Cell.

A missed exit: Reelin sets in motion Dab1 polyubiquitination to put the break on neuronal migration.

J. Gleeson, G. Kerjan, 2007, Genes & development.

Cortical neuronal migration mutants suggest separate but intersecting pathways.

J. Gleeson, S. Bielas, Holden Higginbotham, 2004, Annual review of cell and developmental biology.

Neuronal migration disorders: from genetic diseases to developmental mechanisms

C. Walsh, J. Gleeson, 2000, Trends in Neurosciences.

Cytosine-5 RNA methylation links protein synthesis to cell metabolism

Robert F. Harvey, Abdulrahim A. Sajini, S. Dietmann, 2019, PLoS biology.

Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders

Jernej Ule, Michaela Frye, Wolfgang Wurst, 2014, The EMBO journal.

A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS)

J. Gleeson, M. Zaki, G. Abdel-Salam, 2012, American journal of medical genetics. Part A.

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

J. Sebat, L. Iakoucheva, C. Corsello, 2021, Nature Genetics.

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

Sara B. Linker, Ryan E. Mills, J. V. Moran, 2021, Nature Neuroscience.

The Sacred Disease: The Puzzling Genetics of Epileptic Disorders

J. Gleeson, G. Novarino, S. Baek, 2013, Neuron.

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Robert A Harris, Stephan J Sanders, Matthew W State, 2012, Science.

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

R. Stevenson, M. Lyons, J. Mandel, 2015, European Journal of Human Genetics.

Sperm mosaicism: implications for genomic diversity and disease.

Martin W. Breuss, J. Gleeson, M. Breuss, 2021, Trends in genetics : TIG.

Temporal stability of human sperm mosaic mutations results in life-long threat of transmission to offspring

Xin Xu, An Nguyen, Xiaoxu Yang, 2020 .

The genetic landscape of autism spectrum disorders

J. Gleeson, R. Rosti, K. Vaux, 2014, Developmental medicine and child neurology.

When size matters: CHD8 in autism

J. Gleeson, M. Breuss, 2016, Nature Neuroscience.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

J. Lupski, C. Walsh, S. Jhangiani, 2019, American journal of human genetics.

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Kiely N. James, J. Lupski, S. Jhangiani, 2018, European Journal of Human Genetics.

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Colin A. Johnson, I. Glass, F. Brancati, 2008, American journal of human genetics.

Doublecortin-like kinase enhances dendritic remodelling and negatively regulates synapse maturation

J. Gleeson, Yutaro Kashiwagi, S. Okabe, 2013, Nature Communications.

Primary Cilia in the Developing and Mature Brain

Joseph G. Gleeson, Nicole G. Coufal, N. Coufal, 2014, Neuron.

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia

J. V. Moran, Michael E. Coulter, Laurel L. Ball, 2019, bioRxiv.

AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis

Madeline A. Lancaster, A. D. den Hollander, F. Cremers, 2010, Nature Genetics.

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

E. Bertini, F. Brancati, E. Valente, 2009, Human mutation.

Transgenic Mouse Line with Green-fluorescent Protein-labeled Centrin 2 allows Visualization of the Centrosome in Living Cells

Joseph G. Gleeson, J. Gleeson, S. Bielas, 2004, Transgenic Research.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Abou, N. Brunetti‐Pierri, J. Hentschel, 2022, medRxiv.

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

Martin W. Breuss, J. Gleeson, H. Topaloglu, 2021, European Journal of Human Genetics.

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

Martin W. Breuss, B. Traynor, J. Gleeson, 2019, Journal of Medical Genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Kiely N. James, Martin W. Breuss, Renee D. George, 2018, American journal of human genetics.

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability

Kiely N. James, Martin W. Breuss, D. Keays, 2016, Human molecular genetics.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

G. Gyapay, A. Durr, F. Lamari, 2012, American journal of human genetics.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

P. Striano, M. Fornerod, N. Brunetti‐Pierri, 2019, American journal of human genetics.

NSUN 2-mediated cytosine-5 RNA methylation

J. Ule, H. Fuchs, D. Odom, 2014 .

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

S. Gabriel, E. Zackai, E. Nickerson, 2013, American journal of human genetics.

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

A. Muotri, M. Zatz, P. Armas, 2015, Human molecular genetics.

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Gene W. Yeo, S. Gabriel, F. Baas, 2016, Nature Genetics.

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

F. Imam, J. Gleeson, G. Novarino, 2017, Journal of Medical Genetics.

Genetic regulation of human brain development: lessons from Mendelian diseases

J. Gleeson, Tracy Dixon-Salazar, Tracy J. Dixon‐Salazar, 2010, Annals of the New York Academy of Sciences.

Autism in Several Members of a Family With Generalized Epilepsy With Febrile Seizures Plus

D. Trauner, J. Gleeson, Tracy Dixon-Salazar, 2004, Journal of child neurology.

Primary cilia in neurodevelopmental disorders

E. Valente, J. Gleeson, R. Rosti, 2014, Nature Reviews Neurology.

Modeling Human Disease in Humans: The Ciliopathies

J. Gleeson, G. Novarino, N. Akizu, 2011, Cell.

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders.

J. Gleeson, Joseph G Gleeson, Ji E Lee, 2011, Current opinion in neurology.

The mutation significance cutoff: gene-level thresholds for variant predictions

Lluis Quintana-Murci, Lei Shang, Yuval Itan, 2016, Nature Methods.

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Xiang-Dong Fu, Frank Baas, Murat Gunel, 2014, Cell.

Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain

J. Gleeson, Brendan C Brinkman, Holden Higginbotham, 2006, Nature Neuroscience.

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

S. Gabriel, J. Casanova, E. Dikoglu, 2015, Nature Genetics.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Colin A. Johnson, Nancy F. Hansen, R. Gibbs, 2011, Nature Genetics.

Functional genomic screen for modulators of ciliogenesis and cilium length

T. Ideker, K. Ono, J. Gleeson, 2010, Nature.

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

P. Striano, H. Prokisch, Matteo P. Ferla, 2022, Human mutation.

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

Wendy S. Schackwitz, D. Geschwind, R. Cantor, 2008, Human molecular genetics.

Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation

Ji Eun Lee, Joseph G. Gleeson, J. Gleeson, 2014, Neuron.

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration

A. Wynshaw-Boris, M. Gambello, J. Gleeson, 2004, The Journal of cell biology.

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

R. Pfundt, R. Roepman, V. Haucke, 2018, bioRxiv.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

Comprehensive identification of somatic nucleotide variants in human brain tissue

Peter J. Park, Jonathan Pevsner, Eduardo Soriano, 2020, bioRxiv.

Stem Cell–Based Organoid Models of Neurodevelopmental Disorders

J. Gleeson, Lu Wang, David Sievert, 2023, Biological Psychiatry.

Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, I. Miller, 2018, Nature Genetics.

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

S. Gabriel, E. Nickerson, R. Naviaux, 2013, Cell.

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Sara B. Linker, Ryan E. Mills, Kiely N. James, 2023, Nature Genetics.

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

A. Munnich, A. Saiardi, N. Boddaert, 2020, Nature Communications.

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

J. Gleeson, K. Kutsche, M. Hempel, 2021, Brain : a journal of neurology.

The primary cilium as a cellular signaling center: lessons from disease.

Madeline A Lancaster, Madeline A. Lancaster, M. Lancaster, 2009, Current opinion in genetics & development.

Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia

N. Chuang, J. Friedman, J. Gleeson, 2017, Neurology.

Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.

Gary W Mathern, G. Mathern, J. Gleeson, 2013, Current opinion in neurology.

Spinophilin Facilitates Dephosphorylation of Doublecortin by PP1 to Mediate Microtubule Bundling at the Axonal Wrist

T. Deerinck, Mark Ellisman, P. Allen, 2007, Cell.

Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes

I. Glass, A. Barkovich, W. Dobyns, 2004, American journal of medical genetics. Part A.

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Colin A. Johnson, S. Gabriel, N. Katsanis, 2012, Science.

Cdk5 Phosphorylation of Doublecortin Ser297 Regulates Its Effect on Neuronal Migration

L. Tsai, A. Kulkarni, J. Gleeson, 2004, Neuron.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

G. Carvill, D. Ledbetter, M. Ross, 2018, Genetics in Medicine.

A case of spastic paraplegia type 11 with a variation in the SPG11 gene

J. Gleeson, M. Elmas, B. Gogus, 2020, Egyptian Journal of Medical Human Genetics.

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

J. Gleeson, M. Zaki, J. Silhavy, 2011, European journal of medical genetics.

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.

Kiely N. James, Jason D. Heaney, J. Rosenfeld, 2017, American journal of human genetics.

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.

I. Scheffer, D. Ledbetter, Í. Lopes-Cendes, 2002, Brain : a journal of neurology.

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

S. Mane, H. Per, N. Šestan, 2015, Neuron.

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

S. Mane, H. Per, N. Šestan, 2014, Neuron.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Eric N. Anderson, T. Strom, J. Landers, 2021, Nature Communications.

Redefining the Etiologic Landscape of Cerebellar Malformations.

I. Krantz, D. Nickerson, G. Seelig, 2019, American journal of human genetics.

Mutation spectrum of Joubert syndrome and related disorders among Arabs

J. Gleeson, L. Al-Gazali, B. Ali, 2014, Human Genome Variation.

Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers

J. Gleeson, M. Zaki, S. Sattar, 2011, American journal of medical genetics. Part A.

The role of primary cilia in neuronal function

J. Gleeson, J. H. Lee, 2010, Neurobiology of Disease.

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Gloria L. Porras-Hurtado, J. Vincent, Hiba Mohammed, 2021, European Journal of Human Genetics.

Insight into developmental mechanisms of global and focal migration disorders of cortical development

J. Gleeson, Michael A. Castello, 2020, Current Opinion in Neurobiology.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Kiely N. James, Dillon Y. Chen, G. Mancini, 2019, American journal of human genetics.

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

William B Dobyns, Polina Bukshpun, Christopher Sullivan, 2013, American journal of medical genetics. Part A.

Multiple Dose-Dependent Effects of Lis1 on Cerebral Cortical Development

A. Wynshaw-Boris, M. Gambello, J. Gleeson, 2003, The Journal of Neuroscience.

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

S. Gabriel, A. Caglayan, H. Kaymakçalan, 2016, American journal of human genetics.

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

S. Kingsmore, M. Bainbridge, Andrew C. Richardson, 2023, JAMA network open.

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Madeline A. Lancaster, E. Bertini, M. Lancaster, 2006, Nature Genetics.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Colin A. Johnson, S. Nelson, B. Merriman, 2011, Nature Genetics.

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

J. Casanova, Shen-Ying Zhang, L. Quintana-Murci, 2021, Proceedings of the National Academy of Sciences.

Primary cilia in neurodevelopmental

J. Gleeson, E. Gibbs, 2013 .

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Colin A. Johnson, K. Cibulskis, S. Gabriel, 2010, Nature Genetics.

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

F. Alkuraya, J. Gleeson, F. Al-Mohanna, 2019, American journal of human genetics.

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

C. Woods, J. Gleeson, L. Al-Gazali, 2003, American journal of human genetics.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

T. Mazza, H. Van Esch, H. Kayserili, 2016, Journal of Medical Genetics.

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

S. Gabriel, M. Gunel, A. Cazenave-Gassiot, 2015, Nature Genetics.

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

J. Gleeson, L. Al-Gazali, B. Ali, 2014, Metabolic Brain Disease.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Colin A. Johnson, S. Gabriel, E. Bertini, 2013, European Journal of Human Genetics.

Joubert syndrome: report of 11 cases.

J. Gleeson, F. Incecik, M. O. Hergüner, 2012, The Turkish journal of pediatrics.

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, Brain : a journal of neurology.

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

M. Hegde, H. Freeze, Melanie A. Jones, 2012, American journal of human genetics.

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

J. van Reeuwijk, L. Hoefsloot, H. van Bokhoven, 2010, Brain : a journal of neurology.

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.

J. Gleeson, M. Zaki, R. Rosti, 2014, Gene.

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Mohit M. Jain, R. Maroofian, J. Gleeson, 2020, Genetics in Medicine.

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

C. Bönnemann, T. Lehky, H. Lochmüller, 2020, American journal of medical genetics. Part A.

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

J. Gécz, J. Gleeson, M. Corbett, 2022, NPJ genomic medicine.

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration

A. Ashley-Koch, A. Morrison, J. Hixson, 2021, Scientific Reports.

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.

J. Gleeson, S. Krishnaswami, Joon-Hyeong Kim, 2008, Human molecular genetics.

DCLK1 phosphorylates the microtubule‐associated protein MAP7D1 to promote axon elongation in cortical neurons

J. Yates, J. Gleeson, Kazuya Togashi, 2017, Developmental neurobiology.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Colin A. Johnson, J. Rosenfeld, A. Bateman, 2017, American journal of human genetics.

Genetic basis of Joubert syndrome and related disorders of cerebellar development.

J. Gleeson, Carrie M. Louie, 2005, Human molecular genetics.

Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

Madeline A. Lancaster, M. Lancaster, J. Gleeson, 2009, Nature Medicine.

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Colin A. Johnson, S. Gabriel, T. Ideker, 2015, eLife.

Mutations in CSPP1 lead to classical Joubert syndrome.

S. Gabriel, M. Gunel, M. Kabra, 2014, American journal of human genetics.

Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

Kiely N. James, Martin W. Breuss, Laurel L. Ball, 2022, bioRxiv.

Ndel1 Operates in a Common Pathway with LIS1 and Cytoplasmic Dynein to Regulate Cortical Neuronal Positioning

L. Tsai, J. Gleeson, M. Nguyen, 2004, Neuron.

The Neurobiology of Zika Virus

Hongda Li, J. Gleeson, L. Saucedo-Cuevas, 2016, Neuron.

A human three-dimensional neural-perivascular ‘assembloid’ promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology

S. Palecek, J. Gleeson, A. Carlin, 2021, Nature Medicine.

Evaluating human mutation databases for "treatability" using patient-customized therapy.

J. Gleeson, Swapnil Mittal, I. Tang, 2022, Med.

Evaluating Human Mutation Databases for ‘Treatability’ Using Personalized Antisense Oligonucleotides

J. Gleeson, Swapnil Mittal, I. Tang, 2022, bioRxiv.

Pathogenetic mechanisms of focal cortical dysplasia

J. Gleeson, R. Guerrini, I. Marín-Valencia, 2014, Epilepsia.

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

D. Rader, G. Rubboli, R. Møller, 2020, Brain : a journal of neurology.

Genetic and neuroradiological heterogeneity of double cortex syndrome

I. Scheffer, C. Walsh, P. Huttenlocher, 2000, Annals of neurology.

Polo-like kinase 2 regulates angiogenic sprouting and blood vessel development.

J. Gleeson, T. Hsiai, J. Trejo, 2015, Developmental biology.

Simultaneous multiple-excitation multiphoton microscopy yields increased imaging sensitivity and specificity

Aleksander Rebane, Mikhail Drobizhev, M. Drobizhev, 2011, BMC biotechnology.

GSK3β and PKCζ function in centrosome localization and process stabilization during Slit-mediated neuronal repolarization

J. Gleeson, Brendan C Brinkman, Holden Higginbotham, 2006, Molecular and Cellular Neuroscience.

Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts.

A. Barkovich, J. Gleeson, P. Grattan-Smith, 2004, Journal of Child Neurology.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Kiely N. James, A. Fatemi, M. Tarnopolsky, 2019, The Journal of clinical investigation.

Is mental retardation a defect of synapse structure and function?

M. Chechlacz, J. Gleeson, 2003, Pediatric neurology.

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

D. Ledbetter, C. Walsh, M. Ross, 1998, Human molecular genetics.

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Katherine R. Smith, A. Hoischen, E. Haan, 2015, Human molecular genetics.

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

S. Gabriel, E. Nickerson, J. Gleeson, 2012, Journal of Medical Genetics.

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.

M. Tarnopolsky, K. Boycott, K. Kernohan, 2021, American journal of human genetics.

Osteopoikilosis and the Buschke–Ollendorff syndrome

J. Gleeson, N. Roberts, J. Langtry, 1993 .

Case report: osteopoikilosis and the Buschke-Ollendorff syndrome.

J. Gleeson, N. Roberts, J. Langtry, 1993, The British journal of radiology.

Virmid: accurate detection of somatic mutations with sample impurity inference

V. Bafna, Hojung Nam, J. Gleeson, 2013, Genome Biology.

Sperm mosaicism predicts transmission of de novo mutations to human blastocysts

J. Gleeson, Xiaoxu Yang, Jennifer McEvoy-Venneri, 2022, bioRxiv.

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

J. Gleeson, S. Roosing, J. Silhavy, 2016, Human Genetics.

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

D. Seelow, D. Horn, S. Mundlos, 2011, American journal of human genetics.

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Kiely N. James, Martin W. Breuss, A. Caglayan, 2018, Nature Genetics.

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

W. Dobyns, J. Gleeson, M. Zaki, 2007, American journal of medical genetics. Part A.

Cytoskeletal-associated proteins in the migration of cortical neurons.

J. Gleeson, S. Bielas, 2004, Journal of neurobiology.

Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis

S. Gabriel, J. Gleeson, A. Fenstermaker, 2015, Clinical genetics.

Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome

S. Gabriel, H. Per, N. Shomron, 2018, Annals of neurology.

The doublecortin and doublecortin-like kinase 1 genes cooperate in murine hippocampal development.

J. Gleeson, Teruyuki Tanaka, Hiroyuki Koizumi, 2006, Cerebral cortex.

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

N. Guex, J. Chrast, A. Reymond, 2020, Journal of Medical Genetics.

Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvation.

Ji Eun Lee, J. Gleeson, P. Aza-Blanc, 2016, Biochimica et biophysica acta.

doublecortin-like kinase Functions with doublecortin to Mediate Fiber Tract Decussation and Neuronal Migration

J. Gleeson, Teruyuki Tanaka, Hiroyuki Koizumi, 2006, Neuron.

Patient Mutations in Doublecortin Define a Repeated Tubulin-binding Domain*

C. Walsh, J. Gleeson, J. Bazan, 2000, The Journal of Biological Chemistry.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

Tommaso Mazza, Jessica Rosati, William B Dobyns, 2017, American journal of human genetics.

Implication of folate deficiency in CYP2U1 loss of function

A. Durr, F. Lamari, S. Picaud, 2021, The Journal of experimental medicine.

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy.

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, American journal of human genetics.

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

C. Ross, W. Wasserman, H. Waterham, 2019, American journal of human genetics.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Kiely N. James, P. Bauer, A. Caglayan, 2018, Journal of Medical Genetics.

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

Kiely N. James, J. Rosenfeld, Alison M. Male, 2020, American journal of human genetics.

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.

R. Schüle, L. Schöls, J. Gleeson, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

I. Scheffer, C. Walsh, G. Holmes, 1999, Annals of neurology.

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder

J. Gleeson, M. Zaki, G. Abdel-Salam, 2020, Neurological Sciences.

Control-independent mosaic single nucleotide variant detection with DeepMosaic

Ryan E. Mills, J. V. Moran, Michael E. Coulter, 2023, Nature Biotechnology.

The centrosome in neuronal development

J. Gleeson, Holden Higginbotham, 2007, Trends in Neurosciences.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010, The Journal of clinical investigation.

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.

A. Dale, M. Ashtari, A. Barkovich, 2012, Brain : a journal of neurology.

The Very Low Density Lipoprotein Receptor–Associated Pontocerebellar Hypoplasia and Dysmorphic Features in Three Turkish Patients

S. Kul, J. Gleeson, F. M. Sonmez, 2013, Journal of child neurology.

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

J. Gleeson, L. Al-Gazali, J. Silhavy, 2012, BMC Medical Genetics.

Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome

S. Kapoor, R. Kapur, J. Gleeson, 2015, Case reports in pediatrics.

Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors

Hongda Li, J. Gleeson, Zhiheng Xu, 2019, Neuron.

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

E. M. DeGennaro, Kiely N. James, Michael E. Coulter, 2020, Genetics in Medicine.

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

A. Pagnamenta, L. Hoefsloot, S. Arold, 2023, Acta Neuropathologica.

SRD5A3 is required for the conversion of polyprenol to dolichol, essential for N-linked protein glycosylation

H. Freeze, R. Wevers, J. Gleeson, 2010 .

INHERITED NEURODEVELOPMENTAL BRAIN DISEASES: APPLICATIONS OF HOMOZYGOSITY MAPPING TO IDENTIFY NEW GENETIC CAUSES OF DISEASE

J. Gleeson, 2008 .

Subcellular Spatial Regulation of Canonical Wnt Signaling at the Primary Cilium

M. Lancaster, J. Gleeson, J. Schroth, 2011, Nature Cell Biology.

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive

E. Dikoglu, J. Gleeson, M. Zaki, 2016, Annals of neurology.

Moving neurons back into place

J. Gleeson, G. Kerjan, 2009, Nature Medicine.

Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene

E. Dikoglu, Marilyn C. Jones, J. Gleeson, 2016, American journal of medical genetics. Part A.

Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

J. Gleeson, I. Ahel, K. Caldecott, 2020, Nature Communications.

GSK3beta and PKCzeta function in centrosome localization and process stabilization during Slit-mediated neuronal repolarization.

J. Gleeson, Holden Higginbotham, Teruyuki Tanaka, 2006, Molecular and cellular neurosciences.

Spinophilin Facilitates Dephosphorylation of Doublecortin by PP1 to Mediate Microtubule Bundling at the Axonal Wrist

T. Deerinck, Mark Ellisman, P. Allen, 2007, Cell.

Coupling of cell migration with neurogenesis by proneural bHLH factors

M. Greenberg, L. Nguyen, F. Guillemot, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Comprehensive identification of somatic nucleotide variants in human brain tissue

J. V. Moran, Lovelace J. Luquette, Laurel L. Ball, 2021, Genome Biology.

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

Kiely N. James, Laurel L. Ball, Renee D. George, 2020, Epilepsia open.

A Zika virus mutation enhances transmission potential and confers escape from protective dengue virus immunity

P. Shi, J. Gleeson, A. Terskikh, 2022, Cell reports.

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

J. Gleeson, L. Al-Gazali, J. Silhavy, 2012, Orphanet Journal of Rare Diseases.

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance

S. Gabriel, J. Friedman, J. Gleeson, 2012, Neurology.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Kiely N. James, S. Kingsmore, S. Chowdhury, 2019, Nature Communications.

Mutation spectrum of Joubert syndrome and related disorders among Arabs

J. Gleeson, L. Al-Gazali, B. Ali, 2015, Human Genome Variation.

Dandy–Walker malformation, genitourinary abnormalities, and intellectual disability in two families

J. Gleeson, M. Zaki, A. Masri, 2015, American journal of medical genetics. Part A.

Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy

G. Hummer, I. Katona, J. Gleeson, 2023, Nature.

Genetics of brain development and malformation syndromes

J. Gleeson, Teruyuki Tanaka, 2000, Current opinion in pediatrics.

Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy

P. Striano, S. Efthymiou, R. Maroofian, 2021, Epilepsia.

The action of MPTP on synaptic transmission is affected by changes in Ca2+ concentrations

John A. Wilson, J. Gleeson, Y. Lau, 1991, Brain Research.

The molecular and genetic mechanisms of neocortex development.

J. Gleeson, Alejandro L. Diaz, 2009, Clinics in perinatology.

Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement.

G. Meyer, J. Gleeson, C. G. Perez-Garcia, 2002, Cerebral cortex.

New Genetic Insights into Cerebral Cortical Development

C. Walsh, J. Gleeson, 1997 .

Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder

J. Gleeson, M. Zaki, H. Afifi, 2009, American journal of medical genetics. Part A.

A YAC contig in Xq22.3-q23, from DXS287 to DXS8088, spanning the brain-specific genes doublecortin (DCX) and PAK3.

C. Walsh, J. Gleeson, K. Allen, 1998, Genomics.

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

Naama Elefant, R. Maroofian, H. Houlden, 2023, medRxiv.

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

J. Sebat, L. Iakoucheva, C. Corsello, 2022, Nature Genetics.

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Kiely N. James, Martin W. Breuss, F. Alkuraya, 2016, American journal of human genetics.

Rodent models of cerebral cortical developmental defects

J. Gleeson, 2006 .

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

DeepMosaic: Control-independent mosaic single nucleotide variant detection using deep convolutional neural networks

Yifan Wang, Chen Li, Xin Xu, 2020, bioRxiv.

A newly discovered mechanism driving neuronal mutations in Alzheimer’s disease

J. Gleeson, Guoliang Chai, 2018, Nature.

Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

J. Gleeson, M. McDonald, M. Zaki, 2023, American journal of medical genetics. Part A.

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

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

Neurophysiologic characterization of motor and sensory projections in Joubert syndrome

Á. Pascual-Leone, J. Gleeson, H. Théoret, 2013, Clinical Neurophysiology.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

N. Brunetti‐Pierri, J. Hentschel, F. Alkuraya, 2022, American journal of human genetics.

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia

Sara B. Linker, Ryan E. Mills, J. V. Moran, 2021, Nature Neuroscience.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

G. Carvill, D. Ledbetter, M. Ross, 2018, Genetics in Medicine.

TMEM161B modulates radial glial scaffolding in neocortical development

O. Andreassen, S. Murray, W. Dobyns, 2023, Proceedings of the National Academy of Sciences of the United States of America.

New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

W. Dobyns, J. Gleeson, M. Zaki, 2011, American journal of medical genetics. Part A.

Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations

A. Rolfs, J. Gleeson, M. Zaki, 2018, Clinical Genetics.

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

J. Casanova, J. Fellay, P. Stenson, 2018, Proceedings of the National Academy of Sciences.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Colin A. Johnson, S. Levy, Shaohui Wang, 2012, Cell.

Reversibility and developmental neuropathology of linear nevus sebaceous syndrome caused by dysregulation of the RAS pathway.

G. Mathern, J. Gleeson, J. Rah, 2023, Cell reports.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010 .

Another double trouble

J. Gleeson, 2003, Neurology.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2021, American journal of human genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

J. Vincent, R. Abou Jamra, J. Gleeson, 2016, American journal of human genetics.

and function with to

A. Wynshaw-Boris, M. Gambello, J. Gleeson, 2004 .

Personalized antisense oligonucleotides ‘for free, for life’ — the n-Lorem Foundation

J. Gleeson, C. Bennett, Tracy A. Cole, 2023, Nature Network Boston.

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Stephan J Sanders, Robert A. Harris, S. Gabriel, 2012, Science.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

T. Mazza, H. Van Esch, H. Kayserili, 2016, Journal of Medical Genetics.

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission

P. Schlattmann, K. Kaila, F. Alkuraya, 2023, Brain : a journal of neurology.

Paternally inherited cis-regulatory structural variants are associated with autism

S. Scherer, J. Sebat, L. Iakoucheva, 2018, Science.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

E. Bertini, L. Di Marcotullio, T. Mazza, 2017, American journal of human genetics.

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, medRxiv.

I. Scheffer, P. Striano, F. Alkuraya, 2023, European Journal of Human Genetics.

Opus: University of Bath Online Publication Store Aberrant Methylation of Trnas Links Cellular Stress to Neuro-developmental Disorders

J. Ule, D. Odom, C. Kutter, 2022 .

Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies

E. Bertini, F. Brancati, E. Valente, 2010, Human mutation.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

G. Gyapay, A. Durr, F. Lamari, 2012, American journal of human genetics.

Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvation.

Ji Eun Lee, J. Gleeson, Je-Gun Joung, 2016, Biochimica et biophysica acta.