Profile

Ian A. Glass, MB ChB, MD

Ian A. Glass, MB ChB, MD

Genetics, Craniofacial

On staff since November 2000

Children's Title: Clinical Director, Genetics Division; Program Director, Genetics Education; Clinical Director, Regional Genetics Program

Academic Title: Professor

Ian A. Glass, MBChB, MD, FACMG., is the director of Medical Genetics at Seattle Children's Hospital and the director of the Alaska Genetics and Birth Defects Program. He is also a Professor of Pediatrics and Medicine at the University of Washington School of Medicine.

Seattle Children's programs provide virtually all of the pediatric genetic services for the states of Washington and Alaska and as needed, serve the entire age spectrum by referral. Dr. Glass is an experienced genetics clinician who, besides coordinating and conducting clinical services in multiple sites, undertakes specialized consultative services for neurogenetics, Joubert syndrome and other ciliopathies, skeletal dysplasia and cardiovascular genetics patients. He also conducts research in to the developmental bases of congenital anomalies in his laboratory, which has a long-established role as an important NIH funded nationwide core tissue resource for multiple scientific researchers. Dr. Glass also collaborates on a long standing research effort of the division in a successful project into the molecular bases of Joubert syndrome and related disorders of the cerebellum, now led by another division member. This group has been instrumental in the discovery of several novel Joubert syndrome genes and the developmental biology of these genes as well as improving the accuracy of diagnosis and quality of care for this group of patients.

Recommendations

  • Rebecca Richland,WA 05.18.12

    I am grateful Dr. Glass took the time to come to Richland to examine our daughter. He was very helpful and kind when explaining to us the ramifications of her genetic abnormality. Thank you, Dr. Glass.

Overview

Board Certification(s)

Clinical Genetics (MD)

Medical/Professional School

University of Otago, Dunedin
University of Otago, Dunedin

Residency

Pediatrics, Queen Elizabeth Hospital for Children, London
Pediatrics, University College Hospital - London UK, London
Pediatrics, Royal Hospital for Sick Children, Glasgow
Medical Genetics, Birmingham Maternity Hospital, Birmingham

Fellowship

Medical Genetics, University of California - San Francisco, San Francisco
Clinical Genetics, Mount Sinai School of Medicine, New York

Research Focus Area

Genetics and Developmental Biology

Awards and Honors

Award Name Award Description Awarded By Award Date
SEATTLE'S TOP DOCTOR - 2014 Seattle Metropolitan Magazine 2014
SEATTLE MAGAZINE TOP DOCTOR - 2014 Seattle Magazine 2014
Seattle's Top Doc Seattle Met Magazine 2013
Seattle Magazine Top Doctor - 2013 Seattle Magazine 2013

Publications

  • Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D
    Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
    Journal of medical genetics , 2012 Feb. : 49(2)126-37
  • Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG
    CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
    Nature genetics , 2012 Jan. 15 : 44(2)193-9
  • Vining NC, Done S, Glass IA, Parnell SE, Sternen DL, Leppig KA, Mosca VS, Goldberg MJ
    EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.
    Skeletal radiology , 2011 Sept. 4
  • Juric-Sekhar G, Kapur RP, Glass IA, Murray ML, Parnell SE, Hevner RF
    Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
    Acta neuropathologica , 2011 Apr, : 121(4)545-54
  • Juric-Sekhar G, Kapur RP, Glass IA, Murray ML, Parnell SE, Hevner RF
    Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
    Acta neuropathologica , 2010 Sept. 21
  • Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO
    Eye movement abnormalities in Joubert syndrome.
    Investigative ophthalmology & visual science , 2009 Oct. : 50(10)4669-77
  • Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA
    MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
    The Journal of pediatrics , 2009 Sept. : 155(3)386-92.e1
  • Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr
    Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
    Epilepsia , 2009 May : 50(5)1167-75
  • Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr
    Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
    Epilepsia , 2009 May : 1167-75
  • Ian A. Glass, MB ChB, MD
    Other chromosomal disorders
    Current Management in Child Neurology , 2009 : 4th edition367-374
  • Ian A. Glass, MB ChB, MD
    The CC2D2A gene is mutated in Joubert syndrome and implicated in the function of the primary cilium/basal body
  • 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 EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D
    CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
    American journal of human genetics , 2008 Nov. : 83(5)559-71
  • 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 EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D
    CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
    American journal of human genetics , 2008 Nov. : 559-71
  • Ian A. Glass, MB ChB, MD
    The molar tooth sign in 2 patients with features of Pallister Hall syndrome: evidence that Joubert syndrome has mechanistic overlap with sonic hedgehog signalling pathways
  • Ian A. Glass, MB ChB, MD
    Clinical features in 20 families with coach syndrome: causative mutations identified in more than one ciliary gene
  • Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, International Joubert Syndrome Related Disorders Study Group, Valente EM, Woods CG, Gleeson JG
    Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
    American journal of human genetics , 2008 Aug. : 83(2)170-9
  • Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Valente EM, Woods CG, Gleeson JG
    Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
    American journal of human genetics , 2008 Aug. : 170-9
  • Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass IA, Raff ML, Norwood T, Torchia BA
    Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
    Molecular cytogenetics , 2008 Apr, 21 : 17
  • Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass IA, Raff ML, Norwood T, Torchia BA
    Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
    Molecular Cytogenetics , 2008 Apr, 21 : 7
  • Ian A. Glass, MB ChB, MD
    Mutations in the gene encoding the basal body protein RPGRIP1L, a novel nephrocystin-4 interactor, cause Joubert syndrome
  • Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F
    Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
    Journal of medical genetics , 2007 Oct. : 44(10)657-63
  • Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R
    Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
    Nature genetics , 2007 July : 39(7)882-8
  • Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R
    Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
    Nature genetics , 2007 July : 882-8
  • Ian A. Glass, MB ChB, MD
    Joubert syndrome: The New Ciliopathy
  • Parisi MA, Doherty D, Chance PF, Glass IA
    Joubert syndrome (and related disorders) (OMIM 213300).
    European journal of human genetics : EJHG , 2007 May : 15(5)511-21
  • Parisi MA, Doherty D, Chance PF, Glass IA
    Joubert syndrome (and related disorders) (OMIM 213300).
    European journal of human genetics : EJHG , 2007 May : 511-21
  • Souter VL, Parisi MA, Nyholt DR, Kapur RP, Henders AK, Opheim KE, Gunther DF, Mitchell ME, Glass IA, Montgomery GW
    A case of true hermaphroditism reveals an unusual mechanism of twinning.
    Human genetics , 2007 Apr, : 121(2)179-85
  • Souter VL, Parisi MA, Nyholt DR, Kapur RP, Henders AK, Opheim KE, Gunther DF, Mitchell ME, Glass IA, Montgomery GW
    A case of true hermaphroditism reveals an unusual mechanism of twinning.
    Human genetics , 2007 Apr, : 179-85
  • Ian A. Glass, MB ChB, MD
    Prenatal diagnosis in pregnancies at risk for Joubert syndrome utilizing ultrasound and MRI: review and proposed screening protocol
  • Ian A. Glass, MB ChB, MD
    Outcomes in fetuses with abnormal posterior fossa imaging findings
  • Power PD, Lewin MB, Hannibal MC, Glass IA
    Aortic root dilatation is a rare complication of Noonan syndrome.
    Pediatric cardiology , 2006 July : 27(4)478-80
  • Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, Glass IA, Chance PF, Bennett CL
    Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
    Neurobiology of disease , 2006 July : 23(1)97-108
  • Glass IA, Li L, Cotter PD
    Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
    European journal of medical genetics , 2006 July : 49(4)346-8
  • Glass IA, Li L, Cotter PD
    Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
    European journal of medical genetics , 2006 July : 346-8
  • Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, Glass IA, Chance PF, Bennett CL
    Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
    Neurobiology of disease , 2006 July : 97-108
  • Power PD, Lewin MB, Hannibal MC, Glass IA
    Aortic root dilatation is a rare complication of Noonan syndrome.
    Pediatric cardiology , 2006 July : 478-80
  • Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F
    The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
    Nature genetics , 2006 June : 38(6)674-81
  • Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F
    The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
    Nature genetics , 2006 June : 674-81
  • Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD
    Ring chromosome 15: characterization by array CGH.
    Human genetics , 2006 Jan. : 118(5)611-7
  • Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD
    Ring chromosome 15: characterization by array CGH.
    Human genetics , 2006 Jan. : 611-7
  • Ian A. Glass, MB ChB, MD
    Joubert syndrome: a paradigm for prenatal diagnosis of specific hindbrain malformations by ultrasound and MRI
  • Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M Jr, Nyberg D
    Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
    Prenatal diagnosis , 2005 June : 25(6)442-7
  • Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M Jr, Nyberg D
    Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
    Prenatal diagnosis , 2005 June : 442-7
  • Ian A. Glass, MB ChB, MD
    COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria
  • Walters BA, Raff ML, Hoeve JV, Tesser R, Langer LO, France TD, Glass IA, Pauli RM
    Spondylometaphyseal dysplasia with cone-rod dystrophy.
    American journal of medical genetics. Part A , 2004 Sept. 1 : 129A(3)265-76
  • Walters BA, Raff ML, Hoeve JV, Tesser R, Langer LO, France TD, Glass IA, Pauli RM
    Spondylometaphyseal dysplasia with cone-rod dystrophy.
    American journal of medical genetics. Part A , 2004 Sept. 1 : 265-76
  • Ian A. Glass, MB ChB, MD
    COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria for this cerebello-oculo-renal disorder
  • Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA
    The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
    American journal of human genetics , 2004 July : 75(1)82-91
  • Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA
    The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
    American journal of human genetics , 2004 July : 82-91
  • Lewin MB, Glass IA, Power P
    Genotype-phenotype correlation in congenital heart disease.
    Current opinion in cardiology , 2004 May : 19(3)221-7
  • Ian A. Glass, MB ChB, MD
    Genotype-phenotype correlation in congenital heart disease
    Curr Opin Cardiol , 2004 May : 19(3)221-7
  • Lewin MB, Glass IA, Power P
    Genotype-phenotype correlation in congenital heart disease.
    Current opinion in cardiology , 2004 May : 221-7
  • Parisi MA, Pinter JD, Glass IA, Field K, Maria BL, Chance PF, Mahurin RK, Cramer SC
    Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.
    Journal of child neurology , 2004 Mar. : 19(3)214-8
  • Bennett CL, Parisi MA, Eckert ML, Huynh HM, Chance PF, Glass IA
    Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
    American journal of medical genetics. Part A , 2004 Mar. 1 : 125A(2)117-24; discussion 117
  • Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB
    Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
    American journal of medical genetics. Part A , 2004 Mar. 1 : 125A(2)125-34; discussion 117
  • Bennett CL, Parisi MA, Eckert ML, Huynh HM, Chance PF, Glass IA
    Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
    American journal of medical genetics. Part A , 2004 Mar. 1 : 117-24; discussion 117
  • Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB
    Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
    American journal of medical genetics. Part A , 2004 Mar. 1 : 125-34; discussion 117
  • Parisi MA, Pinter JD, Glass IA, Field K, Maria BL, Chance PF, Mahurin RK, Cramer SC
    Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.
    Journal of child neurology , 2004 Mar. : 214-8
  • Roscioli T, Taylor PJ, Bohlken A, Donald JA, Masel J, Glass IA, Buckley MF
    The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.
    American journal of medical genetics. Part A , 2004 Jan. 15 : 124A(2)136-41
  • Roscioli T, Taylor PJ, Bohlken A, Donald JA, Masel J, Glass IA, Buckley MF
    The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.
    American journal of medical genetics. Part A , 2004 Jan. 15 : 136-41
  • Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF
    An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
    Epilepsia , 2003 Dec. : 44(12)1529-35
  • Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF
    An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
    Epilepsia , 2003 Dec. : 1529-35
  • Ian A. Glass, MB ChB, MD
    The spectrum of conditions with the molar tooth sign: more than just Joubert syndrome
  • Ian A. Glass, MB ChB, MD
    Ring 15 syndrome: Clinical cytogenetic and comparative genomic hybridization-array characterization of two discordant de novo cases
  • Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli T, Masel J, Hayes M, Glass IA
    Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
    American journal of medical genetics. Part A , 2003 July 15 : 120A(2)157-68
  • Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli T, Masel J, Hayes M, Glass IA
    Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
    American journal of medical genetics. Part A , 2003 July 15 : 157-68
  • Souter VL, Kapur RP, Nyholt DR, Skogerboe K, Myerson D, Ton CC, Opheim KE, Easterling TR, Shields LE, Montgomery GW, Glass IA
    A report of dizygous monochorionic twins.
    The New England journal of medicine , 2003 July 10 : 349(2)154-8
  • Souter VL, Kapur RP, Nyholt DR, Skogerboe K, Myerson D, Ton CC, Opheim KE, Easterling TR, Shields LE, Montgomery GW, Glass IA
    A report of dizygous monochorionic twins.
    The New England journal of medicine , 2003 July 10 : 154-8
  • Ian A. Glass, MB ChB, MD
    The Joubert syndrome (autosomal recessive cerebellar vermis hypoplasia with brainstem malformations): A Multiplex linkage approach to disease mapping and exclusion of the ZlC1 gene
  • Ian A. Glass, MB ChB, MD
    Multiple fetal anomalies associated with subtle subtelomeric chromosome rearrangements
  • Souter V, Nyberg D, Siebert JR, Gonzales A, Luthardt F, Hannibal M, Glass I
    Upper limb phocomelia associated with increased nuchal translucency in a monochorionic twin pregnancy.
    Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine , 2002 Mar. : 21(3)355-60
  • Premaratne C, Klingberg S, Glass I, Wright K, Murrell D
    Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.
    The Australasian journal of dermatology , 2002 Feb. : 43(1)28-34
  • Ian A. Glass, MB ChB, MD
    Clinical and molecular heterogeneity for Madelung deformity of childhood
  • Ian A. Glass, MB ChB, MD
    Leri Weill dyschondrosteosis caused by SHOX splicing mutation
  • Ian A. Glass, MB ChB, MD
    Molecular genetics of congenital erythropoietic porphyria
    Sem Liver Dis , 1998 : 1877-84
  • Munns C, Glass I, Pagon RA, Bird TD, Dolan CR, Stephens K
    SHOX-Related Haploinsufficiency Disorders
  • Parisi M, Glass I, Pagon RA, Bird TD, Dolan CR, Stephens K
    Joubert Syndrome
  • Ian A. Glass, MB ChB, MD
    Application of DNA probes in Fragile X syndrome
    Application of molecular genetics to the diagnosis of inherited disease , 1990
  • Ian A. Glass, MB ChB, MD
    AHl1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

Presentations

Presentations Title Event Location Date
When cilia go bad Pediatric Grand Rounds, Seattle Children's Hospital Seattle, WA Dec. 10, 2010
When cilia go bad Pediatric Grand Rounds, Providence Medical Center Anchorage, AK May 19, 2010
Advances in understanding Joubert Syndrome Pediatric Grand Rounds, Alaska Native Medical Center Anchorage, AK Jan. 26, 2008
Prenatal diagnosis of orthopedic disorders Staheli Orthopedic Conference, Seattle Children's Hospital Seattle, WA Jan. 26, 2008
Advances in understanding Joubert Syndrome Medical Genetics Grand Rounds, University of Washington Seattle, WA Dec. 14, 2007
Prenatal diagnosis of hindbrain malformations Cerebellar Development: From Bench to Bedside, 2006 International Conference Washington, DC Nov. 9, 2006 - Nov. 12, 2006
Genotype-phenotype correlations in Joubert syndrome 11th International Congress of Human Genetics Brisbane, Australia Aug. 10, 2006
The impact of the human genome project on pediatrics WAAMI, Port Angeles Pediatrics Group Port Angeles, WA May 23, 2006
Pyridoxine dependent seizures Neurology Grand Rounds, University of Washington Seattle, WA March 12, 2005
Prenatal diagnosis for Joubert syndrome Joubert Syndrome Foundation 7th Biennial Conference St. Louis, MO July 28, 2004
The impact of the human genome project on medical care WAAMI, Madrona Medical and Pediatrics Practice Bellingham, WA April 7, 2004
The impact of the human genome project on pediatric care Pediatrics update symposium Tacoma, WA Sept. 27, 2003
The impact of the human genome project on medical care Genetics symposium, Barbara Bush Children's Hospital Portland, ME June 5, 2003
Pyridoxine dependent seizures Medical Genetics Grand Rounds, University of Washington Seattle, WA March 12, 2003
The impact of the human genome project on prenatal diagnosis Ultrasound training course Seattle, WA Sept. 8, 2002
The impact of the human genome project on the future of pediatric care Platform presentation, National Associaton of Childrens Hospitals Annual national meeting (NACHRI) Seattle, WA July 1, 2002
Molecular genetics of Madelung deformity of childhood Medical Genetics Grand Rounds, University of Washington Seattle, WA Oct. 26, 2001
Genetic disorders and teenage mental health Platform Presentation, Primary Care National Conference Seattle, WA Sept. 21, 2001
Beyond the outback: Practical applications for the new genetics Pediatric Grand Rounds, University of Washington Seattle, WA June 28, 2001
The practice of medical genetics in Australia Grand Rounds, Alaska Regional Medical Center Anchorage, AK Nov. 28, 2000

Research Funding

Grant Title Grantor Amount Award Date
NIH R24HD00836-44 Laboratory of Developmental Biology $474,321 Jan. 31, 2011 - Jan. 31, 2016
3R24HD000836-45S1 Laboratory of Developmental Biology $82,326 Sept. 30, 2009 - Jan. 31, 2011
Gene Identification in Joubert Syndrome: To identify genetic causes of Joubert syndrome using global expression profiling and SNP mapping University of Washington Royalty Research Fund $37,500 Sept. 1, 2007 - Aug. 31, 2009
Genetic analyses of cerebellar malformations - 1K24 HD046712-01A1 $97,179 Feb. 1, 2005 - Jan. 31, 2010
Genetics of Joubert syndrome and related disorders March of Dimes Endowment for Health Babies, WA Chapter $75,000 Sept. 1, 2002 - Aug. 30, 2004
Dystrophic epidermolysis bullosa research association (DEBRA) $70,000 Feb. 1, 2000 - Jan. 31, 2002
Role of SHOX in human short stature Royal Children's Hospital Foundation, Brisbane, Australia $40,000 Jan. 1, 1999 - Dec. 31, 2001
Characterize the genetic basis of short statute Royal Children's Hospital Foundation, Brisbane, Australia $50,000 Jan. 1, 1998 - Dec. 31, 1999
Molecular basis of craniofacual disorders Royal Children's Hospital Foundation, Brisbane, Australia $55,000 Jan. 1, 1998 - Dec. 31, 1999
Role of SHOX in Leri Weill syndrome and human stature Royal Children's Hospital Foundation, Brisbane, Australia $165,000 Jan. 1, 1998 - Dec. 31, 2002
Molecular basis of Leri Weill syndrome Royal Children's Hospital Foundation, Brisbane, Australia $51,000 Jan. 1, 1998 - Dec. 31, 2000
2R24HD000836-46 Laboratory of Developmental Biology $377,568 May 1, 1979 - Jan. 31, 2011
PI Laboratory of Developmental Biology $377,568 May 1, 1979 - Jan. 31, 2011