Ian A. Glass mainly focuses on Genetics, Joubert syndrome, TMEM67, Cilium and RPGRIP1L. Genetics is often connected to Short stature in his work. His Joubert syndrome study combines topics in areas such as Hypotonia, Ataxia and Nephronophthisis.
His work carried out in the field of Cilium brings together such families of science as Ciliopathies and Ciliopathy. His RPGRIP1L research is multidisciplinary, relying on both Ciliary transition zone, Endocrinology, CC2D2A and Internal medicine. His studies deal with areas such as Ellis–van Creveld syndrome, Allele and Zebrafish as well as Phenotype.
Ian A. Glass mostly deals with Genetics, Joubert syndrome, Phenotype, Anatomy and Pediatrics. Much of his study explores Genetics relationship to Molecular biology. His Joubert syndrome research incorporates themes from TMEM67, Nephronophthisis, Ciliopathy and Ataxia.
His study looks at the relationship between TMEM67 and topics such as RPGRIP1L, which overlap with Ciliary transition zone. He interconnects Disease, Allele and Genotype in the investigation of issues within Phenotype. Ian A. Glass has researched Anatomy in several fields, including Megacystis and Cerebellar vermis.
The scientist’s investigation covers issues in Genetics, Gene, Gene expression, Cell type and Cell biology. His works in Exome sequencing, Mutation, Loss function, Missense mutation and DNA sequencing are all subjects of inquiry into Genetics. His work in Gene expression addresses subjects such as Cell, which are connected to disciplines such as In vitro.
His study explores the link between Cell type and topics such as Computational biology that cross with problems in Regulation of gene expression, Chromatin, Gene expression profiling and Single-cell analysis. His Cell biology research includes themes of MRNA Sequencing and Induced pluripotent stem cell. The various areas that Ian A. Glass examines in his Phenotype study include Gene duplication, Genotype and Neural crest.
His main research concerns Gene expression, Single-cell analysis, Cell type, Cerebellum and Cell. His Gene expression research incorporates themes from Chromatin, Regulation of gene expression, Computational biology and RNA. Among his research on Single-cell analysis, you can see a combination of other fields of science like Interferon-stimulated gene and Lung injury.
His Cerebellum research includes themes of Intellectual disability, Exome, PDGFRB, Etiology and Epilepsy. The Cell study combines topics in areas such as Fetal Stage, Retinal, Transcription factor and Organoid, Cell biology. His Cell biology study incorporates themes from Cell culture, Downregulation and upregulation and Interferon.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Systematic localization of common disease-associated variation in regulatory DNA.
Matthew T. Maurano;Richard Humbert;Eric Rynes;Robert E. Thurman.
Science (2012)
Transcriptional landscape of the prenatal human brain
Jeremy A. Miller;Song Lin Ding;Susan M. Sunkin;Kimberly A. Smith.
Nature (2014)
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
John A. Sayer;John A. Sayer;Edgar A. Otto;John F. O'Toole;Gudrun Nurnberg.
Nature Genetics (2006)
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
Mark Clement-Jones;Simone Schiller;Ercole Rao;Rüdiger J. Blaschke.
Human Molecular Genetics (2000)
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Heleen H Arts;Dan Doherty;Sylvia E C van Beersum;Melissa A Parisi.
Nature Genetics (2007)
SARS-CoV-2 Receptor ACE2 Is an Interferon-Stimulated Gene in Human Airway Epithelial Cells and Is Detected in Specific Cell Subsets across Tissues.
Carly G.K. Ziegler;Samuel J. Allon;Sarah K. Nyquist;Ian M. Mbano.
Cell (2020)
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Vincent Cantagrel;Jennifer L. Silhavy;Stephanie L. Bielas;Dominika Swistun.
American Journal of Human Genetics (2008)
The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome
Melissa A. Parisi;Craig L. Bennett;Melissa L. Eckert;William B. Dobyns.
American Journal of Human Genetics (2004)
Molar Tooth Sign of the Midbrain-Hindbrain Junction: Occurrence in Multiple Distinct Syndromes
Joseph G. Gleeson;Lesley C. Keeler;Melissa A. Parisi;Sarah E. Marsh.
American Journal of Medical Genetics Part A (2004)
Joubert syndrome (and related disorders) (OMIM 213300).
Melissa A Parisi;Dan Doherty;Phillip F Chance;Ian A Glass.
European Journal of Human Genetics (2007)
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