List of works - Ian A Glass

Transcriptional landscape of the prenatal human brain

scientific article

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

scientific article

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

scientific article

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

scientific article

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

scientific article

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

scientific article

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

scientific article published in March 2004

Joubert syndrome (and related disorders) (OMIM 213300).

scientific article published on 21 March 2007

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

scientific article

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

scientific article

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

scientific article published on 27 April 2006

Molecular Anatomy of the Developing Human Retina.

scientific article published in December 2017

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

A Single-Cell Roadmap of Lineage Bifurcation in Human ESC Models of Embryonic Brain Development.

scientific article published on 27 October 2016

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients

scientific article

A Report of Dizygous Monochorionic Twins

scientific article published on 01 July 2003

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

scientific article published on 26 January 2017

The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions

scientific article published on March 26, 2013

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

scientific article

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

scientific article published on 21 October 2015

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

scientific article published on 21 April 2008

Single-Cell Profiling of an In Vitro Model of Human Interneuron Development Reveals Temporal Dynamics of Cell Type Production and Maturation.

scientific article published on March 2017

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome

scientific article

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits

scientific article published in December 2003

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

scientific article published on 3 February 2016

Recessive mutations in VPS13D cause childhood-onset movement disorders

scientific article published on 8 March 2018

Spondylometaphyseal dysplasia with cone-rod dystrophy

article

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III

scientific article published on September 21, 2010

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.

scientific article published in March 2004

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

scientific article published in July 2003

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

A case of true hermaphroditism reveals an unusual mechanism of twinning

scientific article

Keratinocytes produce IL-17c to protect peripheral nervous systems during human HSV-2 reactivation

scientific article published on 29 June 2017

Spatial and single-cell transcriptional landscape of human cerebellar development

journal article from 'bioRxiv' published in 2020

Ring chromosome 15: characterization by array CGH.

scientific article published on 3 November 2005

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

scientific article published on August 2017

Differences in Oral Structure and Tissue Interactions during Mouse vs. Human Palatogenesis: Implications for the Translation of Findings from Mice

scientific article published on 15 March 2017

Prospective Evaluation of Kidney Disease in Joubert Syndrome

scientific article published on 16 November 2017

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

scientific article

Mortality in Joubert syndrome.

scientific article published on 28 March 2017

Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene

scientific article published in March 2004

Microtomographic Analysis of Lower Urinary Tract Obstruction

scientific article published on August 26, 2013

PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice

scientific article published on 16 May 2019

Healthcare recommendations for Joubert syndrome

scientific article published on 11 November 2019

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

scientific article

The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype

scientific article

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

scientific article published on 25 July 2018

Aortic root dilatation is a rare complication of Noonan syndrome

scientific article published on 06 July 2006

Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes

scientific article published on 01 November 2018

EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis

scientific article published on 04 September 2011

List of works by Ian A Glass

Transcriptional landscape of the prenatal human brain

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

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

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

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

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

Joubert syndrome (and related disorders) (OMIM 213300).

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

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

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

Molecular Anatomy of the Developing Human Retina.

Recommendations for the integration of genomics into clinical practice

A Single-Cell Roadmap of Lineage Bifurcation in Human ESC Models of Embryonic Brain Development.

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients

A Report of Dizygous Monochorionic Twins

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

Single-Cell Profiling of an In Vitro Model of Human Interneuron Development Reveals Temporal Dynamics of Cell Type Production and Maturation.

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

Recessive mutations in VPS13D cause childhood-onset movement disorders

Spondylometaphyseal dysplasia with cone-rod dystrophy

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

A case of true hermaphroditism reveals an unusual mechanism of twinning

Keratinocytes produce IL-17c to protect peripheral nervous systems during human HSV-2 reactivation

Spatial and single-cell transcriptional landscape of human cerebellar development

Ring chromosome 15: characterization by array CGH.

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

Differences in Oral Structure and Tissue Interactions during Mouse vs. Human Palatogenesis: Implications for the Translation of Findings from Mice

Prospective Evaluation of Kidney Disease in Joubert Syndrome

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

Mortality in Joubert syndrome.

Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene

Microtomographic Analysis of Lower Urinary Tract Obstruction

PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice

Healthcare recommendations for Joubert syndrome

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Aortic root dilatation is a rare complication of Noonan syndrome

Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes

EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis