List of works - Ian A Glass

A Report of Dizygous Monochorionic Twins

scientific article published on 01 July 2003

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

scientific article published on 27 October 2016

A case of true hermaphroditism reveals an unusual mechanism of twinning

scientific article

A dyadic approach to the delineation of diagnostic entities in clinical genomics

scientific article published on 01 January 2021

A human cell atlas of fetal chromatin accessibility

scientific article published on 01 November 2020

A human cell atlas of fetal gene expression

scientific article published on 01 November 2020

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

scientific article published on 01 November 2018

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

Aortic root dilatation is a rare complication of Noonan syndrome

scientific article published on 06 July 2006

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

scientific article

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

scientific article

Cellular resolution anatomical and molecular atlases for prenatal human brains

scientific article published in 2021

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

scientific article published in March 2004

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center

scientific article published on 3 November 2017

Charting human development using a multi-endodermal organ atlas and organoid models

scientific article

Cover Image, Volume 176A, Number 7, July 2018

scholarly article

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

Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin

scientific article published on 19 January 2006

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

scientific article published on 04 September 2011

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions

scientific article published on 25 April 2018

Genotype-phenotype correlation at codon 1740 of SETD2

scientific article published on 24 July 2020

Genotype-phenotype correlation in congenital heart disease

scientific article published on May 2004

Healthcare recommendations for Joubert syndrome

scientific article published on 11 November 2019

In Vitro and In Vivo Development of the Human Airway at Single-Cell Resolution

scientific article published on 27 February 2020

In Vitro and In Vivo Development of the Human Airway at Single-Cell Resolution

scientific article published on 01 September 2020

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

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

scientific article published on 21 March 2007

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

scientific article published in March 2004

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

scientific article published on 29 June 2017

Laser Capture Micro-dissection (LCM) of Neonatal Mouse Forebrain for RNA Isolation

scientific article published on 01 January 2020

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

scientific article published on 21 October 2015

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

scientific article

Marijuana use differentially affects cannabinoid receptor expression in early gestational human endometrium and placenta

scholarly article by Naveen K Neradugomma et al published June 2018 in Placenta

Microtomographic analysis of lower urinary tract obstruction

scientific article published on 26 August 2013

Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis

scientific article published on 27 September 2018

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

scientific article published in March 2004

Molecular Anatomy of the Developing Human Retina.

scientific article published in December 2017

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

Mortality in Joubert syndrome.

scientific article published on 28 March 2017

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

scientific article

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

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans

scientific article published on 18 June 2019

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

scientific article published on August 2017

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

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

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

scientific article published on 31 August 2020

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

scientific article published on September 21, 2010

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants

scientific article published on 01 July 2018

Novel pregnancy-triggered episodes of CAPOS syndrome.

scientific article published in November 2017

PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice

scientific article published on 16 May 2019

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

scientific article

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

scientific article

Prospective Evaluation of Kidney Disease in Joubert Syndrome

scientific article published on 16 November 2017

Recessive mutations in VPS13D cause childhood-onset movement disorders

scientific article published on 8 March 2018

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

Redefining the Etiologic Landscape of Cerebellar Malformations

scientific article published on 29 August 2019

Ring chromosome 15: characterization by array CGH.

scientific article published on 3 November 2005

Risk of meningomyelocele mediated by the common 22q11.2 deletion

scientific article published on 02 May 2024

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

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

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

scientific article published in November 2017

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

Spatial and cell type transcriptional landscape of human cerebellar development

scientific article published on 17 June 2021

Spatial and single-cell transcriptional landscape of human cerebellar development ⬇️

journal article from 'bioRxiv' published in 2020

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

scientific article

Spondylometaphyseal dysplasia with cone-rod dystrophy

article

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

scientific article

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

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

scientific article

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

scientific article

The spectrum of brain malformations and disruptions in twins

scientific article published on 18 November 2020

Transcriptional landscape of the prenatal human brain

scientific article

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

scientific article published on 21 April 2008

Unified rhombic lip origins of group 3 and group 4 medulloblastoma

scientific article published in September 2022

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

scientific article

Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex

scientific article published on 01 April 2020

List of works by Ian A Glass

A Report of Dizygous Monochorionic Twins

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

A case of true hermaphroditism reveals an unusual mechanism of twinning

A dyadic approach to the delineation of diagnostic entities in clinical genomics

A human cell atlas of fetal chromatin accessibility

A human cell atlas of fetal gene expression

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

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

Aortic root dilatation is a rare complication of Noonan syndrome

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

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

Cellular resolution anatomical and molecular atlases for prenatal human brains

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

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center

Charting human development using a multi-endodermal organ atlas and organoid models

Cover Image, Volume 176A, Number 7, July 2018

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

Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin

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

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions

Genotype-phenotype correlation at codon 1740 of SETD2

Genotype-phenotype correlation in congenital heart disease

Healthcare recommendations for Joubert syndrome

In Vitro and In Vivo Development of the Human Airway at Single-Cell Resolution

In Vitro and In Vivo Development of the Human Airway at Single-Cell Resolution

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

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

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

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

Laser Capture Micro-dissection (LCM) of Neonatal Mouse Forebrain for RNA Isolation

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

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

Marijuana use differentially affects cannabinoid receptor expression in early gestational human endometrium and placenta

Microtomographic analysis of lower urinary tract obstruction

Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis

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

Molecular Anatomy of the Developing Human Retina.

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

Mortality in Joubert syndrome.

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

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.

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

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

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

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

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

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants

Novel pregnancy-triggered episodes of CAPOS syndrome.

PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice

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

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

Prospective Evaluation of Kidney Disease in Joubert Syndrome

Recessive mutations in VPS13D cause childhood-onset movement disorders

Recommendations for the integration of genomics into clinical practice

Redefining the Etiologic Landscape of Cerebellar Malformations

Ring chromosome 15: characterization by array CGH.

Risk of meningomyelocele mediated by the common 22q11.2 deletion

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

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

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

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

Spatial and cell type transcriptional landscape of human cerebellar development

Spatial and single-cell transcriptional landscape of human cerebellar development ⬇️

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

Spondylometaphyseal dysplasia with cone-rod dystrophy

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

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

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

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

The spectrum of brain malformations and disruptions in twins

Transcriptional landscape of the prenatal human brain

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

Unified rhombic lip origins of group 3 and group 4 medulloblastoma

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

Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex