Ian A Glass, MD

Ian A Glass, MD

Genetics, Genetic Counseling, Skeletal Health Program, Fetal Care and Treatment Center

On staff since November 2000

Academic Title: Professor, Genetic Medicine

Research Center: Center for Clinical and Translational Research, Center for Integrative Brain Research

  • 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.

    • Sara Yakima 03.09.18

      our son has been seeing Dr. Glass for several years, he always says "I am not doing my job if I can't give/find an answer for you" well as of last Aug we got our answer. Finally found out what our son has, OPHN1 syndrome, he never gave up on us and always spends time with us when we go to Seattle or if he comes to Yakima. Highly recommend him

    • 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.

    Recommend Ian A Glass, MD
  • Award Name Award Description Awarded By Award Date
    SEATTLE TOP DOCTOR - 2022 Seattle Magazine 2022
    SEATTLE MAGAZINE TOP DOCTOR - 2016 Seattle Magazine 2016
    Seattles Top Doctor 2016 Seattle Met Magazine 2016
    SEATTLE MAGAZINE TOP DOCTOR - 2015 Seattle Magazine 2015
    SEATTLE'S TOP DOCTOR - 2015 Seattle Met Magazine 2015
    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

  • Published Abstracts

    • Doherty D, 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, Bammier TK, Farin FM, Dorschner M, Topcu 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
      The CC2D2A gene is mutated in Joubert syndrome and implicated in the function of the primary cilium/basal body
      2008 Nov 13
    • Glass, IA, Parisi, MA, Doherty D, Gorden, NT, Hikida AM, Knutzen DM, Gentile M, Finn L, Doybns WB, Rosenthal P, Verloes A, Stephan MJ, Chance PF
      Clinical features in 20 families with coach syndrome: causative mutations identified in more than one ciliary gene
      2008 Aug 8 - 2008 Aug 13
    • Parisi MA, Doherty D, Gorden NT, Hikida AM, Knutzen DM, Chance PF, Glass IA
      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
      2008 Aug 8 - 2008 Aug 13
    • Doherty D, Arts HH, van Beersum SEC, Parisi MA, Letteboer SJF, Gorden NT, Peters TA, Marker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FPM, Glass IA, Knoers NVAM, Roepman R
      Mutations in the gene encoding the basal body protein RPGRIP1L, a novel nephrocystin-4 interactor, cause Joubert syndrome
      2007 Oct 27
    • Doherty D, Parisi MA, Glass IA
      Joubert syndrome: The New Ciliopathy
      2007 Jun 22
    • Parisi MA, Doherty D, Siebert JR, Knutzen D, Shaw DW, Chance PF, Nyberg D, Glass IA
      Prenatal diagnosis in pregnancies at risk for Joubert syndrome utilizing ultrasound and MRI: review and proposed screening protocol
      2007 Mar 21 - 2007 Mar 25
    • Doherty D, Levine D, Glass IA
      Outcomes in fetuses with abnormal posterior fossa imaging findings
      2006 Nov 9 - 2006 Jan 12
    • Doherty D, Nyberg D, Siebert JR, Parisi MA, Shaw DWW, Strouse PJ, Chance PF, Barr M, Maria B, Glass IA
      Joubert syndrome: a paradigm for prenatal diagnosis of specific hindbrain malformations by ultrasound and MRI
      2005 Oct 26 - 2005 Jan 29
    • Ian A. Glass, MB ChB, MD
      COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria
      2004 Oct 26 - 2004 Jan 30
    • Ian A. Glass, MB ChB, MD
      COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria for this cerebello-oculo-renal disorder
      2004 Aug 18 - 2004 Aug 21
    • Ian A. Glass, MB ChB, MD
      The spectrum of conditions with the molar tooth sign: more than just Joubert syndrome
      2003 Nov 4 - 2003 Jan 8
    • Ian A. Glass, MB ChB, MD
      Ring 15 syndrome: Clinical cytogenetic and comparative genomic hybridization-array characterization of two discordant de novo cases
      2003 Nov 4 - 2003 Jan 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
      2003 May 6
    • Ian A. Glass, MB ChB, MD
      Multiple fetal anomalies associated with subtle subtelomeric chromosome rearrangements
      2002 Oct 15 - 2002 Jan 19
    • Ian A. Glass, MB ChB, MD
      Clinical and molecular heterogeneity for Madelung deformity of childhood
      2001 Oct 12 - 2001 Jan 16
    • Ian A. Glass, MB ChB, MD
      Leri Weill dyschondrosteosis caused by SHOX splicing mutation
      2000 Oct 3 - 2000 Jan 7
    • 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
      AHl1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

    Other 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.
      22241855 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.
      22246503 Nature genetics, 2012 Jan 15 : 44(2)193-9 PMCID:PMC3267856
    • 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.
      21892728 Skeletal radiology, 2011 Sep 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.
      20857301 Acta neuropathologica, 2011 April : 121(4)545-54 PMCID:PMC3059390
    • Juric-Sekhar G, Kapur RP, Glass IA, Murray ML, Parnell SE, Hevner RF
      Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
      20857301 Acta neuropathologica, 2010 Sep 21
    • Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO
      Eye movement abnormalities in Joubert syndrome.
      19443711 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.
      19540516 The Journal of pediatrics, 2009 Sept. : 155(3)386-92.e1 PMCID:PMC2925444
    • Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr
      Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
      19128417 Epilepsia, 2009 May : 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.
      19128417 Epilepsia, 2009 May : 50(5)1167-75
    • Glass IA, Cotter PD, Gospe SM Jr
      Other chromosomal disorders
      Current Management in Child Neurology, 2009 : 4th editio367-374
    • 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.
      18950740 American journal of human genetics, 2008 Nov. : 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.
      18950740 American journal of human genetics, 2008 Nov. : 83(5)559-71 PMCID:PMC2668034
    • 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.
      18674751 American journal of human genetics, 2008 Aug. : 83(2)170-9 PMCID:PMC2495072
    • 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.
      18674751 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.
      18471320 Molecular cytogenetics, 2008 Apr 21 : 17 PMCID:PMC2375883
    • 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.
      18471320 Molecular Cytogenetics, 2008 Apr 21 : 7
    • 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.
      17617513 Journal of medical genetics, 2007 Oct. : 44(10)657-63 PMCID:PMC2597962
    • 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.
      17558407 Nature genetics, 2007 July : 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.
      17558407 Nature genetics, 2007 July : 39(7)882-8
    • Parisi MA, Doherty D, Chance PF, Glass IA
      Joubert syndrome (and related disorders) (OMIM 213300).
      17377524 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).
      17377524 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.
      17165045 Human genetics, 2007 April : 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.
      17165045 Human genetics, 2007 April : 121(2)179-85
    • Glass IA, Li L, Cotter PD
      Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
      16461030 European journal of medical genetics, 2006 July : 49(4)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.
      16644229 Neurobiology of disease, 2006 July : 23(1)97-108
    • Power PD, Lewin MB, Hannibal MC, Glass IA
      Aortic root dilatation is a rare complication of Noonan syndrome.
      16830086 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.
      16644229 Neurobiology of disease, 2006 July : 97-108
    • Glass IA, Li L, Cotter PD
      Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
      16461030 European journal of medical genetics, 2006 July : 346-8
    • Power PD, Lewin MB, Hannibal MC, Glass IA
      Aortic root dilatation is a rare complication of Noonan syndrome.
      16830086 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.
      16682973 Nature genetics, 2006 June : 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.
      16682973 Nature genetics, 2006 June : 38(6)674-81
    • Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD
      Ring chromosome 15: characterization by array CGH.
      16267671 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.
      16267671 Human genetics, 2006 Jan. : 611-7
    • 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.
      15966043 Prenatal diagnosis, 2005 June : 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.
      15966043 Prenatal diagnosis, 2005 June : 25(6)442-7
    • Walters BA, Raff ML, Hoeve JV, Tesser R, Langer LO, France TD, Glass IA, Pauli RM
      Spondylometaphyseal dysplasia with cone-rod dystrophy.
      15326626 American journal of medical genetics. Part A, 2004 Sep 1 : 265-76
    • Walters BA, Raff ML, Hoeve JV, Tesser R, Langer LO, France TD, Glass IA, Pauli RM
      Spondylometaphyseal dysplasia with cone-rod dystrophy.
      15326626 American journal of medical genetics. Part A, 2004 Sep 1 : 129A(3)265-76
    • 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.
      15138899 American journal of human genetics, 2004 July : 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.
      15138899 American journal of human genetics, 2004 July : 75(1)82-91 PMCID:PMC1182011
    • Lewin MB, Glass IA, Power P
      Genotype-phenotype correlation in congenital heart disease.
      15096954 Current opinion in cardiology, 2004 May : 19(3)221-7
    • Lewin MB, Glass IA, Power P
      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.
      15096954 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.
      15119482 Journal of child neurology, 2004 March : 214-8
    • 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.
      14981712 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.
      15119482 Journal of child neurology, 2004 March : 19(3)214-8
    • 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.
      14981712 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.
      14981711 American journal of medical genetics. Part A, 2004 Mar 1 : 125A(2)117-24; 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.
      14981711 American journal of medical genetics. Part A, 2004 Mar 1 : 117-24; discussion 117
    • 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.
      14699611 American journal of medical genetics. Part A, 2004 Jan 15 : 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.
      14699611 American journal of medical genetics. Part A, 2004 Jan 15 : 124A(2)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.
      14636323 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.
      14636323 Epilepsia, 2003 Dec. : 1529-35
    • 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.
      12833394 American journal of medical genetics. Part A, 2003 Jul 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.
      12833394 American journal of medical genetics. Part A, 2003 Jul 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.
      12853588 The New England journal of medicine, 2003 Jul 10 : 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.
      12853588 The New England journal of medicine, 2003 Jul 10 : 349(2)154-8
    • 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.
      11869205 The Australasian journal of dermatology, 2002 Feb. : 43(1)28-34
    • Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH
      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
      20301394 1993
    • Parisi M, Glass I, Pagon RA, Bird TD, Dolan CR, Stephens K
      Joubert Syndrome
      20301500 1993
    • Glass IA and Connor JM
      Application of DNA probes in Fragile X syndrome
      Application of molecular genetics to the diagnosis of inherited disease, 1990

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  • 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
    Prenatal diagnosis of orthopedic disorders Staheli Orthopedic Conference, Seattle Children's Hospital Seattle, WA Jan 26, 2008
    Advances in understanding Joubert Syndrome Pediatric Grand Rounds, Alaska Native Medical Center Anchorage, AK 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 Mar 12, 2005
    Prenatal diagnosis for Joubert syndrome Joubert Syndrome Foundation 7th Biennial Conference St. Louis, MO Jul 28, 2004
    The impact of the human genome project on medical care WAAMI, Madrona Medical and Pediatrics Practice Bellingham, WA Apr 7, 2004
    The impact of the human genome project on pediatric care Pediatrics update symposium Tacoma, WA Sep 27, 2003
    The impact of the human genome project on medical care Genetics symposium, Barbara Bush Children's Hospital Portland, ME Jun 5, 2003
    Pyridoxine dependent seizures Medical Genetics Grand Rounds, University of Washington Seattle, WA Mar 12, 2003
    The impact of the human genome project on prenatal diagnosis Ultrasound training course Seattle, WA Sep 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 Jul 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 Sep 21, 2001
    Beyond the outback: Practical applications for the new genetics Pediatric Grand Rounds, University of Washington Seattle, WA Jun 28, 2001
    The practice of medical genetics in Australia Grand Rounds, Alaska Regional Medical Center Anchorage, AK Nov 28, 2000

Overview

Board Certification(s)

Clinical Genetics and Genomics (MD)

Medical/Professional School

University of Otago, Dunedin, New Zealand

Fellowship

Mount Sinai School of Medicine, New York, NY
University of California at San Francisco School o, San Francisco, CA

Research Focus Area

Genetics and Developmental Biology