Ian Glass
Professor
Pediatrics
Adjunct Professor
Medical Genetics
Director of Medical Genetics, Seattle Children's
Co-Director, Alaska Genetics & Birth Defects Clinic

Faculty Information

Contact
Phone: 
(206) 987-5142
Publications
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 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.
    20857301 Acta neuropathologica , 2011 Apr, : 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 Sept. 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 : 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.
    19128417 Epilepsia , 2009 May : 1167-75

  • Glass IA, Cotter PD, Gospe SM Jr

    Other chromosomal disorders
    Current Management in Child Neurology , 2009 : 4th edition367-374

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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 : 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.
    17558407 Nature genetics , 2007 July : 882-8

  • Doherty D, Parisi MA, Glass IA

    Joubert syndrome: The New Ciliopathy

  • 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 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.
    17165045 Human genetics , 2007 Apr, : 179-85

  • 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

  • Doherty D, Levine D, Glass IA

    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.
    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 : 23(1)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 : 49(4)346-8

  • 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

  • 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

  • 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 : 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.
    16682973 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.
    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, 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

  • 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

  • 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

  • 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.
    15326626 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.
    15326626 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.
    15138899 American journal of human genetics , 2004 July : 75(1)82-91 PMCID: PMC1182011

  • 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

  • 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 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.
    14981711 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.
    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 : 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.
    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 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.
    14699611 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.
    14699611 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.
    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

  • 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.
    12833394 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.
    12833394 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.
    12853588 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.
    12853588 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

  • 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

  • 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

  • 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

  • Parisi M, Glass I, Pagon RA, Bird TD, Dolan CR, Stephens K

    Joubert Syndrome
    20301500

  • Glass IA and Connor JM

    Application of DNA probes in Fragile X syndrome
    Application of molecular genetics to the diagnosis of inherited disease , 1990

  • 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