List of works - Joseph G Gleeson

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

scientific article published on 18 September 2012

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

scientific article published on January 2014

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

scientific article

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

scientific article

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

scientific article published in Nature

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

scientific article published in 2022

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

scientific article published on 08 September 2020

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

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

scientific journal article

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

scientific article

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

scientific article

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

scientific article

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

scientific article

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

scientific article

Autism in several members of a family with generalized epilepsy with febrile seizures plus

scientific article published in August 2004

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

scientific article published on July 2016

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

scientific article published on September 2016

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

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

scientific article published on 14 October 2016

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

scientific article published on 21 March 2017

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

scientific article published on 16 July 2018

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

scientific article

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

scientific article published on 16 January 2017

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability

scientific article published in December 2014

CCDC41 is required for ciliary vesicle docking to the mother centriole

scientific article

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

scientific article

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

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

scientific article

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

scientific article

Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration

scientific article published in January 2004

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

scientific article published on 18 July 2016

Classifying a novel brain malformation

scientific article

Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA.

scientific article published in September 2015

Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis

scientific article

Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers ⬇️

article by Maha S Zaki et al published December 2011 in American Journal of Medical Genetics

Cystic kidney disease: the role of Wnt signaling

scientific article published on 22 June 2010

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

scientific article published on 24 June 2015

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

scientific article

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

scientific article

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

scientific article published on 23 May 2013

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation

scientific article

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

scientific article published in April 2005

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

scientific article published on 14 May 2006

Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration

scientific journal article

Early life experience shapes neural genome

scientific article published in March 2018

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scholarly article published in Nature Genetics

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs

scientific article published on 26 March 2015

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

scientific article

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

Exome sequencing can improve diagnosis and alter patient management

scientific article published on June 2012

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

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

scientific article

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

scientific article published on 5 January 2016

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

scientific article published in August 2009

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

scientific article

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

scientific article published on 30 May 2015

Functional genomic screen for modulators of ciliogenesis and cilium length

scientific article

Genetic basis of Joubert syndrome and related disorders of cerebellar development

scientific article

Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly

scientific article published on 8 November 2007

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

scientific article published on 28 March 2016

Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders

scientific article published on April 2013

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

scientific article

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

scientific article published in May 2007

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

scientific article published on December 2016

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

scientific journal article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report

scientific article published in August 2012

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

scientific article published on August 15, 2012

Modeling Human Disease in Humans: The Ciliopathies ⬇️

scientific article published on September 30, 2011

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes

scientific article published in March 2004

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

scientific article published on 30 May 2016

Moving neurons back into place

scientific article published in January 2009

Mutation spectrum of Joubert syndrome and related disorders among Arabs

scientific article published on 6 November 2014

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

scientific article

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

scientific article

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

scientific article

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

scientific article published on 06 May 2016

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

scientific article (publication date: June 2006)

Mutations in CSPP1 lead to classical Joubert syndrome

scientific article

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

scientific article

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

scientific article published on 7 January 2015

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

scientific article published on December 2014

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

scientific article

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

publication published on 19 July 2018

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

scientific article published on 07 September 2016

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

scientific article

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

scientific article

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

scientific article

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

scientific article

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

scientific article published on 22 March 2012

NSun2-mediated cytosine-5 methylation of vault noncoding RNA determines its processing into regulatory small RNAs

scientific article

Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts

scientific article published in March 2004

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect

article

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

scientific article published on 23 January 2015

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

scientific article

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

scientific article published on 13 February 2014

Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation

scientific article

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

scientific article published on 30 April 2016

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

scientific article published on 06 February 2013

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

scientific article published on 22 May 2015

Primary cilia in neurodevelopmental disorders

scientific article published on 03 December 2013

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

correction of a scholarly article

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

scientific article published in November 2017

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

Somatic mosaicism reveals clonal distributions of neocortical development

scientific article published on 20 April 2022

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

Subcellular spatial regulation of canonical Wnt signalling at the primary cilium ⬇️

scientific article

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scientific article

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

scientific article

The Neurobiology of Zika Virus

scientific article (publication date: December 2016)

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

scientific article published on April 24, 2012

The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells

scientific article

The genetic landscape of autism spectrum disorders

scientific article published on October 2013

The human gene damage index as a gene-level approach to prioritizing exome variants

scientific article

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

scientific article published on January 2016

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

scientific article

The sacred disease: the puzzling genetics of epileptic disorders

scientific article published on 02 October 2013

Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells

scientific article

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

scientific journal article

Virmid: accurate detection of somatic mutations with sample impurity inference

scientific article

When size matters: CHD8 in autism

scientific article published in October 2016

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

scientific article

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

scientific article

Zika Virus Infects Neural Progenitors in the Adult Mouse Brain and Alters Proliferation

scientific article

List of works by Joseph G Gleeson

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

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

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

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

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

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

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

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

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

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

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

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

Autism in several members of a family with generalized epilepsy with febrile seizures plus

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

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

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

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

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

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

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

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

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability

CCDC41 is required for ciliary vesicle docking to the mother centriole

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

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

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

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration

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

Classifying a novel brain malformation

Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA.

Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis

Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers ⬇️

Cystic kidney disease: the role of Wnt signaling

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

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

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

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

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

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

Doublecortin-like kinase functions with doublecortin to mediate fiber tract decussation and neuronal migration

Early life experience shapes neural genome

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Exome sequencing can improve diagnosis and alter patient management

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

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

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

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

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

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

Functional genomic screen for modulators of ciliogenesis and cilium length

Genetic basis of Joubert syndrome and related disorders of cerebellar development

Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly

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

Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

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

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

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

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

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

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

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

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

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report

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

Modeling Human Disease in Humans: The Ciliopathies ⬇️

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

Moving neurons back into place

Mutation spectrum of Joubert syndrome and related disorders among Arabs

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia