I. Glass

I. Glass, T. Cox, J. Siebert, 2013, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements

C. Disteche, I. Glass, M. Parisi, 2003, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

J. Gécz, A. Munnich, S. Robertson, 2001, American journal of human genetics.

Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.

I. Glass, R. Desnick, R. Kauppinen, 1998, Molecular genetics and metabolism.

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

I. Glass, P. Higgins, B. Treutlein, 2021, Cell.

chromosome . proximal short arm of the human X dysfunction ( Aland Island eye disease ) to the Genetic mapping of a cone and rod

K. Davies, I. Glass, A. Fielder, 2022 .

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Genotype-phenotype correlation at codon 1740 of SETD2.

A. Radmanesh, I. Glass, J. Hurst, 2020, American journal of medical genetics. Part A.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Colin A. Johnson, I. Glass, S. Bowdin, 2015, Journal of Medical Genetics.

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood

I. Glass, G. Rappold, J. Batch, 2002, Journal of medical 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.

Spatial and cell-type transcriptional landscape of human cerebellar development

G. Seelig, I. Glass, N. Šestan, 2021, Nature Neuroscience.

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

J. Mullikin, I. Glass, Nisc Comparative Sequencing Program, 2017, Genetics in Medicine.

Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

I. Glass, P. Cotter, P. Oei, 1998, Journal of medical genetics.

Trisomy 2 ql 11 . 2q 21 . 1 resulting from an unbalanced insertion in two generations

I. Glass, P. Cotter, P. Oei, 2022 .

Linkage analysis in the fragile X syndrome using multiple distal Xq polymorphic DNA markers.

K. Davies, I. Glass, J. Connor, 1991, American journal of medical genetics.

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions

I. Glass, Bruce A. Ong, Andrew Gelfand, 2018, American journal of medical genetics. Part A.

Spatial and cell-type transcriptional landscape of human cerebellar development

G. Seelig, I. Glass, N. Šestan, 2021, Nature Neuroscience.

Targeted long-read sequencing identifies missing disease-causing variation.

William H. Majoros, Karynne E. Patterson, Timothy E. Reddy, 2021, American journal of human genetics.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

A report of dizygous monochorionic twins.

G. Montgomery, I. Glass, D. Nyholt, 2003, The New England journal of medicine.

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

Rebecca D Hodge, Samuel Melton, Sharad Ramanathan, 2017, Cell stem cell.

A Single-Cell Roadmap of Lineage Bifurcation inHumanESCModelsofEmbryonicBrainDevelopment

John W. Phillips, Zizhen Yao, V. Menon, 2016 .

An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention Deficits

I. Glass, T. Bird, A. Mitchell, 2003, Epilepsia.

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

J. Shendure, B. O’Roak, I. Glass, 2015, Journal of Medical Genetics.

Amyloidosis in Hodgkin's disease.

I. Glass, S. Wallace, I. Berlin, 1950, The American journal of medicine.

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

I. Glass, P. Cotter, Lei Li, 2006, European journal of medical genetics.

Mosaic trisomy 14 with hepatic involvement.

I. Glass, A. Iglesias, M. Illueca, 1997, Annales de genetique.

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.

I. Glass, D. Shaw, K. Millen, 2012, Brain : a journal of neurology.

Ring chromosome 15: characterization by array CGH

D. Pinkel, I. Glass, K. Rauen, 2005, Human Genetics.

Mild phenotype in two siblings with distal monosomy 12p13.31→pter

I. Glass, R. Bailey, A. Trenholme, 2000, Clinical genetics.

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

I. Glass, T. Roscioli, M. Gattas, 2000, American journal of medical genetics.

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

I. Glass, D. Shaw, W. Dobyns, 2005, Journal of Medical Genetics.

PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice

James W. MacDonald, I. Glass, K. Millen, 2019, eLife.

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.

Upper Limb Phocomelia Associated With Increased Nuchal Translucency in a Monochorionic Twin Pregnancy

I. Glass, M. Hannibal, F. Luthardt, 2002, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.

I. Glass, T. Roscioli, D. Weedon, 2001, American journal of medical genetics.

Tightly linked polymorphic markers for fragile X syndrome and prenatal cytogenetic diagnostic experience.

I. Glass, W. Lanyon, J. Connor, 1992, American journal of medical genetics.

Redefining the Etiologic Landscape of Cerebellar Malformations.

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

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

J. Mullikin, I. Glass, W. Gahl, 2018, Ophthalmology.

Recessive mutations in VPS13D cause childhood onset movement disorders

H. Prokisch, I. Glass, D. Krainc, 2018, Annals of neurology.

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

Trygve E Bakken, John W. Phillips, Zizhen Yao, 2017, Neuron.

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Mark T. Handley, I. Jackson, I. Glass, 2013, Human mutation.

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.

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

S. Thibodeau, C. Schwartz, I. Glass, 1991, American journal of human genetics.

X linked mental retardation.

I. Glass, I A Glass, I. Glass, 1991, Journal of medical genetics.

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center

J. Mullikin, P. Choyke, I. Glass, 2017, Journal of pediatric gastroenterology and nutrition.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

J. Mullikin, P. Choyke, I. Glass, 2017, Clinical journal of the American Society of Nephrology : CJASN.

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

I. Glass, H. Brunner, S. Letteboer, 2007, Nature Genetics.

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

Yan Liu, Michael A Kennedy, Hemant Khanna, 2006, Nature Genetics.

Healthcare recommendations for Joubert syndrome

I. Glass, W. Zein, E. Valente, 2019, American journal of medical genetics. Part A.

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

Shashidhar Pai, Ian Glass, Louise Izatt, 2012, Journal of Medical Genetics.

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

M. Dorschner, Daniel Bates, I. Glass, 2009, Journal of Medical Genetics.

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

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome

I. Glass, H. Omran, F. Hildebrandt, 2007, Journal of Medical Genetics.

A distinct autosomal dominant craniosynostosis-brachydactyly syndrome.

I. Glass, A. Hockley, S. Chapman, 1994, Clinical dysmorphology.

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

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

Molecular Genetics of Congenital Erythropoietic Porphyria

I. Glass, R. Desnick, K. Astrin, 1998, Seminars in liver disease.

Cellular resolution anatomical and molecular atlases for prenatal human brains

Allan R. Jones, John W. Phillips, M. Hawrylycz, 2021, bioRxiv.

Co‐occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy

B. Chung, I. Glass, D. Chitayat, 2010, American journal of medical genetics. Part A.

Localization of the gene for X-linked calvarial hyperostosis to chromosome Xq27.3-Xqter.

I. Glass, W. Hul, W. Van Hul, 2014, Bone.

Expression of SHOX in human fetal and childhood growth plate.

I. Glass, G. Rappold, J. Batch, 2004, The Journal of clinical endocrinology and metabolism.

Aland Island eyedisease) totheproximal short armofthehumanX chromosome

K. Davies, I. Glass, A. Fielder, 1993 .

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

A. Rump, I. Glass, W. Berger, 2016, Journal of Medical Genetics.

PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice

James W. MacDonald, I. Glass, K. Millen, 2019, eLife.

Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation

I. Glass, K. Millen, K. Aldinger, 2021, Acta Neuropathologica.

Linkage homogeneity near the fragile X locus in normal and fragile X families.

S. Thibodeau, C. Schwartz, I. Glass, 1991, Genomics.

Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker.

I. Glass, E. Blennow, R. Williamson, 1993, The New England journal of medicine.

Acquisition of NOTCH dependence is a hallmark of human intestinal stem cell maturation

I. Glass, P. Higgins, J. Spence, 2022, Stem cell reports.

Eye movement abnormalities in Joubert syndrome.

A. Weiss, I. Glass, D. Shaw, 2009, Investigative ophthalmology & visual science.

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

I. Glass, Lei Jin, A. Wald, 2017, The Journal of experimental medicine.

Effect of 24 Months of Recombinant Growth Hormone on Height and Body Proportions in SHOX Haploinsufficiency

I. Glass, J. Batch, M. Berry, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate.

I. Glass, R. Labrom, J. Batch, 2001, Hand surgery : an international journal devoted to hand and upper limb surgery and related research : journal of the Asia-Pacific Federation of Societies for Surgery of the Hand.

Histopathological analysis of Leri-Weill dyschondrosteosis

I. Glass, R. Labrom, J. Batch, 2001 .

Rescuing human fetal tissue research in the United States: A call for additional regulatory reform

I. Glass, A. Copp, Katherine E. MacDuffie, 2021, Stem cell reports.

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

I. Glass, M. Hannibal, K. Tsuchiya, 2008, Molecular Cytogenetics.

Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome.

I. Glass, B. Wainwright, C. Wicking, 2001, American journal of medical genetics.

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

I. Glass, R. Hevner, Mitzi L. Murray, 2011, Acta Neuropathologica.

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

I. Glass, H. M. Byers, James T. Bennett, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Mortality in Joubert syndrome

I. Glass, D. Doherty, Ian G. Phelps, 2017, American journal of medical genetics. Part A.

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants

I. Glass, M. Goldberg, I. Chang, 2018, American journal of medical genetics. Part A.

Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

I. Glass, D. Aitken, E. Boyd, 1989, Journal of Medical Genetics.

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

Trygve E Bakken, John W. Phillips, Zizhen Yao, 2017, Neuron.

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

R. Gibbs, D. Muzny, I. Glass, 2016, American journal of medical genetics. Part A.

Height Discordance in Monozygotic Females is not Attributable to Discordant Inactivation of X-linked Stature Determining Genes

I. Glass, A. Heath, K. Kirk, 2001, Twin Research.

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

Trygve E Bakken, John W. Phillips, Zizhen Yao, 2017, Neuron.

Response to Hamosh et al.

C. Haldeman-Englert, M. Bamshad, I. Glass, 2021, American journal of human genetics.

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

S. Cramer, I. Glass, R. Mahurin, 2004, Journal of child neurology.

Linkage analysis in a large family with nonspecific X-linked mental retardation.

I. Glass, J. Connor, F. Cockburn, 1991, American journal of medical genetics.

Clinical and Genetic Aspects of the Joubert Syndrome: a Disorder Characterised by Cerebellar Vermian Hypoplasia and Accompanying Brainstem Malformations

I. Glass, J. Meuleman, P. Chance, 2003 .

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

I. Glass, P. Chance, M. Parisi, 2004, American journal of medical genetics. Part A.

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

Shane J. Neph, Matthew T. Maurano, Fidencio J. Neri, 2012, Science.

Unified rhombic lip origins of group 3 and group 4 medulloblastoma

Jennifer L. Hadley, Matthew A. Scoggins, V. Hovestadt, 2022, Nature.

SARS-CoV-2 Entry Genes Are Most Highly Expressed in Nasal Goblet and Ciliated Cells within Human Airways

Fabian J Theis, D. Pe’er, A. Regev, 2020, Nature Medicine.

A unique cardiovascular presentation of Marfan syndrome

I. Glass, Kaylee Park, A. Olson, 2022, American journal of medical genetics. Part A.

Colin A. Johnson, P. Choyke, I. Glass, 2009, The Journal of pediatrics.

Author response: PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice

James W. MacDonald, I. Glass, K. Millen, 2019 .