IanAmosGlassMD

PubMed

• variants inare associated with hearing impairment, ocular pathology, and cardiac defects.
  Mengqi Ma, Yiming Zheng, Shenzhao Lu, Xueyang Pan, Kim C Worley
  Medrxiv. 2024-01-09
• 2 citations
  De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
  Kerith-Rae Dias, Colleen M Carlston, Laura E R Blok, Lachlan De Hayr, Urwah Nawaz
  Genetics in Medicine. 2022-09-01
• 1 citations
  A unique cardiovascular presentation of Marfan syndrome.
  Andrea Otero Luna, Kaylee B Park, Jenna Schauer, Mark Castera, Carolina Quintana Grijalba
  American Journal of Medical Genetics. Part A. 2022-08-01

Journal Articles

• Novel Phenotype of Achondroplasia Due to Biallelic FGFR3 Pathogenic Variants  
  Maryse L Bouchard, Shawn E Kamps, Michael J Goldberg, Irene J Chang, Ian A Glass, Stephen Done, American Journal of Medical Genetics Part A
• Single-Cell Profiling of an In Vitro Model of Human Interneuron Development Reveals Temporal Dynamics of Cell Type Production and Maturation  
  Close JL, Yao Z, Levi BP, Miller JA, Bakken TE, Menon V, Ting JT, Wall A, Krostag AR, Thomsen ER, Nelson AM, Mich JK, Hodge RD, Shehata SI, Glass IA, Bort S, Shapovalo..., Neuron, 1/15/2017
• Integrative analysis of 111 reference human epigenomes  
  Roadmap Epigenomics Consortium, Kundaje A, Meuleman W, Ernst J, Bilenky M, Yen A et al, Nature, 1/1/2015
• Localization of the gene for X-linked calvarial hyperostosis to chromosome Xq273-Xqter  
  Borra VM, Steenackers E, de Freitas F Van Hul E, Glass I, Van Hul W, Bone, 1/1/2014
• The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions  
  Tuz K, Hsiao YC, Juarez O, Shi B, Harmon EY, Phelps IG, Lennartz MR, Glass IA, Doherty D, Ferland RJ, J Biol Chem, 1/1/2013
• Unexpected structural complexity of supernumerary marker chromosome characterized by microarray comparative genomic hybridization  
  Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass IA, Raff ML, Norwood T, Torchia BA, Mol Cytogenet, 1/21/2008
• Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure(PDS) patients  
  Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr, Epilepsia, 1/14/2008
• Mutation analysis of NPHP6/CEP290 in patients with Joubert-Syndrome and Senior-Loken-Syndrome  
  Helou J, Otto EA, Attanasio M, Allen SJ, Parisi M, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O' Toole J, Sayer J, Hildebrandt F, J Med Genet, 1/1/2007
• Mutations in the gene encoding the basal body protein RPGRIP1L, a novel nephrocystin-4 interactor, cause Joubert syndrome  
  Arts HH, Doherty D, van Beersum SEC, Parisi MA, Letteboer SJF, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner..., Nat Genet, 1/1/2007
• Joubert syndrome (and Related Disorders) (OMIM 213300)  
  Parisi MA, Doherty D., Chance, PF, Glass IA, Eur J Med Genet, 1/1/2007
• Aortic Root Dilatation is a rare complication of Noonan Syndrome  
  Power PD, Lewin MB, Hannibal MC, Glass IA, J Ped Cardiol Pediatr Cardiol, 1/1/2006
• Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI  
  Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M, Nyberg D, Prenatal Diagnosis, 1/1/2005
• The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype  
  Roscioli T, Taylor PJ, Bohlken A, Donald JA, Masel J, Glass IA, Buckley MF, Am J Med Genet, 1/1/2004
• Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene  
  Bennett CL, Parisi MA, Eckert ML, Huynh HM, Chance PF, Glass IA, Am J Med Genet, 1/1/2004
• Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes  
  Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB, Am J Med Genet, 1/1/2004
• Spondylometaphyseal dysplasia with cone-rod dystrophy  
  Walters BA, Raff ML, Hoeve JV, Tesser R, Langer LO, France TD, Glass IA, Pauli RM, Am J Med Genet, 1/1/2004
• Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia  
  Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli T, Masel J, Hayes M, Glass IA, Am J Med Genet, 1/15/2003
• Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome  
  Adamson KA, Cross I, Batch JA, Rappold GA, Glass IA, Ball SG, Clin Endocrinol (Oxf), 1/1/2002
• Prevalence of mutations in the short stature homeobox-containing gene (SHOX) in Madelung deformity of childhood  
  Flanagan S, Munns C, Hayes M, Williams B, Berry M, Vickers D, Rao D, Rappold GA, Batch JA, Hyland V, Glass IA, J Med Genet, 1/1/2002
• Epidermolysis bullosa simplex Dowling-Meara due to an Arg-Cys substitution in exon 1 of keratin 14  
  Premartin C, Klingberg S, Glass I, Wright K, Murrell D, Aust J Derm, 1/1/2002
• Beare Stevenson syndrome-like anomalies resulting from a P252R Missense Mutation in the gene encoding Fibroblast Growth Factor 3  
  Roscioli T, Flanagan S, Mortimore RJ, Kumar P, Weedon D, Masel, Lewandowski R, Hyland VJ, Glass IA, Am J Med Genet, 1/1/2001
• Novel mutation in the 7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome  
  Evans T, Poh, A, Webb C, Wainwright B, Glass IA, Carey, WF, Fietz M, Wicking C, Am J Hum Genet, 1/1/2001
• The molecular basis of X-linked spondyloepiphyseal dysplasia tarda (SEDL)  
  Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munn..., Am J Hum Genet, 1/1/2001
• Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis  
  Klingberg S, Mortimore R, Parkes J, Chick JED, Clague AE, Murrell D, Weedon D, Glass IA, Prenatal Diagnosis, 1/1/2000
• The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome  
  Clement-Jones M, Schiller S, Rao E, Blaschke J, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA, Hum Mol Genet, 1/1/2000
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Books/Book Chapters

• Current Management in Child Neurology 
  Chapter: Other chromosomal disorders 
  Page 367 - 374Glass, IA, Cotter, PD, Gospe, SM JrEditors: BL Maria.People's Medical Publishing House, Shelton, CTEdition 4th,2009
• Application of molecular genetics to the diagnosis of inherited disease 
  Chapter: Application of DNA probes in Fragile X syndrome' 
  Glass IA and Connor JMEditors: KE Davies.Royal College Physicians1990

Abstracts/Posters

• Autism-related expression is spatially restricted in mid- gestational cerebellum
  Glass IA et al, 37th Annual David W. Smith Workshop on Malformations and Morphogenesis, UCLA-Lake Arrowhead, CA, 1/1/2016
• Autism-related expression is spatially restricted in mid-gestaional cerebellum
  Glass IA et al, European Society of Human Genetics, Barcelona, Spain, 1/1/2016
• Re-evaluating secondary palate development
  Glass IA et al, 36th Annual David W. Smith Workshop on Malformations and Morphogenesis, Harbortown, MD, 1/1/2015
• Re-evaluating secondary palate development
  Glass IA et al, 35th Annual David W. Smith Workshop on Malformations and Morphogenesis, Madison, WI, 1/1/2014
• Clinical features in 20 families with coach syndrome: causative mutations identified in more than one ciliary gene
  Glass IA, with Parisi MA, Doherty D, Gorden NT, Hikida AM, Knutzen DM, Gentile M, Finn, L, Dobyns WB, Rosenthal P, Verloes A, Stephan MJ, Chance PF, 29th Annual David W. Smith Workshop on Malformations and Morphogenesis, Mont-Tremblant, Quebec, Canada, 1/8/2013
• Lumping, rather than splitting: paradoxical accumulation of subcutaneous fat in Wiedemann-Rautenstrauch syndrome
  Glass IA and Bennett J, 34th Annual David W. Smith Workshop on Malformations and Morphogenesis, Quebec, Canada, 1/1/2013
• No evidence for oligogenic inheritance of Joubert syndrome based on the first 20 genes.
  Glass IA et al, 34th Annual David W. Smith Workshop on Malformations and Morphogenesis, Quebec, Canada, 1/1/2013
• Identification of TCTN2 mutations in Joubert syndrome.
  Glass IA et al, 33rd Annual David W. Smith Workshop on Malformations and Morphogenesis, GA, 1/1/2012
• Linear sebaceous nevus syndrome in siblings
  Glass IA et al, 32th Annual David W. Smith Workshop on Malformations and Morphogenesis, UCLA-Lake Arrowhead California, CA, 1/1/2011
• Applications of fetal tissues to facilitate birth defects research
  Glass IA et al, 30th Annual David W. Smith Workshop on Malformations and Morphogenesis, Children's Hospital of Philadelphia, PA, 1/1/2009
• The CC2D2A gene is mutated in Joubert syndrome and implicated in the function of the primary cilium/basal body
  Doherty D, with Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto ..., American Society of Human Genetics 58th Annual Meeting, Philadelphia, PA, 1/13/2008
• Mutations in the gene encoding the basal body protein RPGRIP1L, a novel nephrocystin-4 interactor, cause Joubert syndrome
  Doherty D, with Arts HH, van Beersum SEC, Parisi MA, Letteboer SJF, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Br..., American Society of Human Genetics 57th Annual Meeting, San Diego, CA, 1/27/2007
• Joubert syndrome: The New Ciliopathy
  Doherty D, with Parisi MA, Glass IA, Pacific Pediatric Neurology Colloquium, Seattle, WA, 1/22/2007
• Prenatal diagnosis in pregnancies at risk for Joubert syndrome utilizing ultrasound and MRI: review and proposed screening protocol
  Parisi MA, with Doherty D, Siebert JR, Knutzen D, Shaw DWW, Chance PF, Nyberg D, Glass IA, American College of Medical Genetics Annual Meeting, Nashville, TN, 1/21/2007
• Outcomes in fetuses with abnormal posterior fossa imaging findings
  Doherty D, with Levine D, Glass IA, NIH sponsored Cerebellar Development: Bench to Bedside 2006 International Meeting, Washington, DC, 1/9/2006
• AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
  Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA, American Society for Human Genetics 55th Annual Meeting, Salt Lake City, UT, 1/26/2005
• Joubert syndrome: a paradigm for prenatal diagnosis of specific hindbrain malformations by ultrasound and MRI
  Doherty D, Nyberg D, Siebert JR, Parisi MA, Shaw DWW, Strouse PJ, Chance PF, Barr M, Maria B, Glass IA, American Society for Human Genetics 55th Annual Meeting, Salt Lake City, UT, 1/26/2005
• COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria.
  Glass IA, American Society of Human Genetics, 54th Annual Meeting, Toronto, Ontario, Canada, 1/26/2004
• COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria for this cerebello-oculo-renal disorder.
  Glass IA, David W. Smith Annual Workshop on Malformations and Morphogenesis, Salt Lake City, UT, 1/18/2004
• The Joubert syndrome (autosomal recessive cerebellar vermis hypoplasia with brainstem malformations): A Multiplex linkage approach to disease mapping and exclusion of ...
  Glass IA, Pediatric Academic Societies Annual Meeting, Seattle, WA, 1/6/2003
• The spectrum of conditions with the molar tooth sign: more than just Joubert syndrome.
  Glass IA, American Society of Human Genetics, 53rd Annual Meeting, Los Angeles, CA, 1/4/2003
• Ring 15 syndrome: Clinical cytogenetic and comparative genomic hybridization-array characterization of two discordant de novo cases.
  Glass IA, American Society of Human Genetics, 53rd Annual Meeting, Los Angeles, CA, 1/4/2003
• Multiple fetal anomalies associated with subtle subtelomeric chromosome rearrangements
  Glass IA, American Society of Human Genetics, 51st Annual Meeting, Baltimore, MD, 1/15/2002
• Clinical and molecular heterogeneity for Madelung deformity of childhood.
  Glass IA, American Society of Human Genetics, 51st Annual Meeting, San Diego, CA, 1/12/2001
• Leri Weill dyschondrosteosis caused by SHOX splicing mutation
  Glass IA, American Society of Human Genetics, 50th Annual Meeting, Philadelphia, PA, 1/3/2000
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Lectures

• When cilia go bad, Joubert syndrome 
  1/28/2011
• When cilia go bad 
  1/10/2010
• Prenatal diagnosis of orthopedic disorders 
  CHRMC, Seattle, WA - 1/26/2008
• Advances in understanding Joubert Syndrome 
  University of Washington - 1/14/2007
• The impact of the human genome project on pediatrics. 
  Port Angeles, WA - 1/23/2006
• Genotype-phenotype correlations in Joubert syndrome 
  Brisbane, Australia - 1/10/2006
• Prenatal diagnosis of hindbrain malformation: Genetic and pathological evaluations 
  Washington, DC - 1/9/2006
• Prenatal diagnosis of hindbrain malformations: Introduction and overview of problems faced in prenatal diagnosis of the posterior fossa 
  Washington, DC - 1/9/2006
• Prenatal diagnosis of hindbrain malformations 
  1/9/2006
• Prenatal diagnosis for Joubert syndrome. 
  St. Louis Sheraton Hotel, St. Louis, MO - 1/28/2004
• The impact of the human genome project on medical care. 
  Bellingham, WA - 1/7/2004
• The impact of the human genome project on pediatric care 
  Tacoma, WA - 1/27/2003
• Pyridoxine dependent seizures 
  University of Washington - 1/12/2003
• The impact of the human genome project on medical care 
  Barbara Bush Children's Hospital , Portland, ME - 1/5/2003
• The impact of the human genome project on prenatal diagnosis. 
  Seattle, WA - 1/8/2002
• The impact of the human genome project on the future of pediatric care. 
  Seattle, WA - 1/1/2002
• Beyond the outback: Practical applications for the new genetics 
  University of Washington - 1/28/2001
• Molecular genetics of Madelung deformity of childhood 
  University of Washington - 1/26/2001
• Genetic disorders and teenage mental health 
  Seattle, WA - 1/21/2001
• The practice of medical genetics in Australia. 
  Anchorage, AK - 1/28/2000
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Other

• Joubert syndrome 
  Parisi, M. A. and Glass, I. A., Medical Genetics Information Resource
  http://www.genetests.org
  1/1/2004
• SHOX-related haploinsufficiency disorders 
  Munns CM. and Glass, I. A., Medical Genetics Information Resource
  http://www.genetests.org