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Ian A. Glass, MB ChB, MD

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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

Recommendations

RebeccaRichland,WA05.18.12
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 Dr. Ian 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 NameAward DescriptionAwarded ByAward Date
Seattle Magazine Top Doctor - 2013Seattle Magazine 2013
Seattle's Top DocSeattle Met Magazine 2013

Publications

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
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Nature genetics , 2012 Jan 15: 44(2)193-9
EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.
Skeletal radiology , 2011 Sep 4
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
Acta neuropathologica , 2011 Apr: 121(4)545-54
Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
Acta neuropathologica , 2010 Sep 21
Eye movement abnormalities in Joubert syndrome.
Investigative ophthalmology & visual science , 2009 Oct: 50(10)4669-77
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
The Journal of pediatrics , 2009 Sep: 155(3)386-92.e1
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Epilepsia , 2009 May: 1167-75
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Epilepsia , 2009 May: 50(5)1167-75
Other chromosomal disorders
Current Management in Child Neurology , 2009: 4th edition367-374
The CC2D2A gene is mutated in Joubert syndrome and implicated in the function of the primary cilium/basal body
, Nov. 13, 2008
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
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
Clinical features in 20 families with coach syndrome: causative mutations identified in more than one ciliary gene
, Aug. 8, 2008 - Aug. 13, 2008
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
, Aug. 8, 2008 - Aug. 13, 2008
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
American journal of human genetics , 2008 Aug: 170-9
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
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
Molecular Cytogenetics , 2008 Apr 21: 7
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
Molecular cytogenetics , 2008 Apr 21: 17
Mutations in the gene encoding the basal body protein RPGRIP1L, a novel nephrocystin-4 interactor, cause Joubert syndrome
, Oct. 27, 2007
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
Journal of medical genetics , 2007 Oct: 44(10)657-63
Joubert syndrome: The New Ciliopathy
, June 22, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Nature genetics , 2007 Jul: 882-8
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Nature genetics , 2007 Jul: 39(7)882-8
Joubert syndrome (and related disorders) (OMIM 213300).
European journal of human genetics : EJHG , 2007 May: 511-21
Joubert syndrome (and related disorders) (OMIM 213300).
European journal of human genetics : EJHG , 2007 May: 15(5)511-21
Prenatal diagnosis in pregnancies at risk for Joubert syndrome utilizing ultrasound and MRI: review and proposed screening protocol
, March 21, 2007 - March 25, 2007
A case of true hermaphroditism reveals an unusual mechanism of twinning.
Human genetics , 2007 Apr: 179-85
A case of true hermaphroditism reveals an unusual mechanism of twinning.
Human genetics , 2007 Apr: 121(2)179-85
Outcomes in fetuses with abnormal posterior fossa imaging findings
, Nov. 9, 2006 - Nov. 12, 2006
Aortic root dilatation is a rare complication of Noonan syndrome.
Pediatric cardiology , 2006 Jul-Aug: 478-80
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 Jul: 97-108
Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
European journal of medical genetics , 2006 Jul-Aug: 346-8
Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
European journal of medical genetics , 2006 Jul-Aug: 49(4)346-8
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 Jul: 23(1)97-108
Aortic root dilatation is a rare complication of Noonan syndrome.
Pediatric cardiology , 2006 Jul-Aug: 27(4)478-80
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Nature genetics , 2006 Jun: 674-81
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Nature genetics , 2006 Jun: 38(6)674-81
Ring chromosome 15: characterization by array CGH.
Human genetics , 2006 Jan: 611-7
Ring chromosome 15: characterization by array CGH.
Human genetics , 2006 Jan: 118(5)611-7
Joubert syndrome: a paradigm for prenatal diagnosis of specific hindbrain malformations by ultrasound and MRI
, Oct. 26, 2005 - Oct. 29, 2005
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Prenatal diagnosis , 2005 Jun: 442-7
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Prenatal diagnosis , 2005 Jun: 25(6)442-7
COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria
, Oct. 26, 2004 - Oct. 30, 2004
COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria for this cerebello-oculo-renal disorder
, Aug. 18, 2004 - Aug. 21, 2004
Spondylometaphyseal dysplasia with cone-rod dystrophy.
American journal of medical genetics. Part A , 2004 Sep 1: 265-76
Spondylometaphyseal dysplasia with cone-rod dystrophy.
American journal of medical genetics. Part A , 2004 Sep 1: 129A(3)265-76
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
American journal of human genetics , 2004 Jul: 82-91
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
American journal of human genetics , 2004 Jul: 75(1)82-91
Genotype-phenotype correlation in congenital heart disease
Curr Opin Cardiol , May 2004: 19(3)221-7
Genotype-phenotype correlation in congenital heart disease.
Current opinion in cardiology , 2004 May: 221-7
Genotype-phenotype correlation in congenital heart disease.
Current opinion in cardiology , 2004 May: 19(3)221-7
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
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
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
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
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
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
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
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
Ring 15 syndrome: Clinical cytogenetic and comparative genomic hybridization-array characterization of two discordant de novo cases
, Nov. 4, 2003 - Nov. 8, 2003
The spectrum of conditions with the molar tooth sign: more than just Joubert syndrome
, Nov. 4, 2003 - Nov. 8, 2003
An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
Epilepsia , 2003 Dec: 1529-35
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
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 Jul 15: 157-68
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 Jul 15: 120A(2)157-68
A report of dizygous monochorionic twins.
The New England journal of medicine , 2003 Jul 10: 154-8
A report of dizygous monochorionic twins.
The New England journal of medicine , 2003 Jul 10: 349(2)154-8
The Joubert syndrome (autosomal recessive cerebellar vermis hypoplasia with brainstem malformations): A Multiplex linkage approach to disease mapping and exclusion of the ZlC1 gene
, May 6, 2003
Multiple fetal anomalies associated with subtle subtelomeric chromosome rearrangements
, Oct. 15, 2002 - Oct. 19, 2002
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
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
Clinical and molecular heterogeneity for Madelung deformity of childhood
, Oct. 12, 2001 - Oct. 16, 2001
Leri Weill dyschondrosteosis caused by SHOX splicing mutation
, Oct. 3, 2000 - Oct. 7, 2000
Molecular genetics of congenital erythropoietic porphyria
Sem Liver Dis , 1998: 1877-84
Joubert Syndrome
, 1993
SHOX-Related Haploinsufficiency Disorders
, 1993
Application of DNA probes in Fragile X syndrome
Application of molecular genetics to the diagnosis of inherited disease , 1990
AHl1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
,

Presentations

Presentations TitleEventLocationDate
When cilia go badPediatric Grand Rounds, Seattle Children's HospitalSeattle, WADec. 10, 2010
When cilia go badPediatric Grand Rounds, Providence Medical CenterAnchorage, AKMay 19, 2010
Prenatal diagnosis of orthopedic disordersStaheli Orthopedic Conference, Seattle Children's HospitalSeattle, WAJan. 26, 2008
Advances in understanding Joubert SyndromePediatric Grand Rounds, Alaska Native Medical CenterAnchorage, AKJan. 26, 2008
Advances in understanding Joubert SyndromeMedical Genetics Grand Rounds, University of WashingtonSeattle, WADec. 14, 2007
Prenatal diagnosis of hindbrain malformationsCerebellar Development: From Bench to Bedside, 2006 International ConferenceWashington, DCNov. 9, 2006 - Nov. 12, 2006
Genotype-phenotype correlations in Joubert syndrome11th International Congress of Human GeneticsBrisbane, AustraliaAug. 10, 2006
The impact of the human genome project on pediatricsWAAMI, Port Angeles Pediatrics GroupPort Angeles, WAMay 23, 2006
Pyridoxine dependent seizuresNeurology Grand Rounds, University of WashingtonSeattle, WAMarch 12, 2005
Prenatal diagnosis for Joubert syndromeJoubert Syndrome Foundation 7th Biennial ConferenceSt. Louis, MOJuly 28, 2004
The impact of the human genome project on medical careWAAMI, Madrona Medical and Pediatrics PracticeBellingham, WAApril 7, 2004
The impact of the human genome project on pediatric carePediatrics update symposiumTacoma, WASept. 27, 2003
The impact of the human genome project on medical careGenetics symposium, Barbara Bush Children's HospitalPortland, MEJune 5, 2003
Pyridoxine dependent seizuresMedical Genetics Grand Rounds, University of WashingtonSeattle, WAMarch 12, 2003
The impact of the human genome project on prenatal diagnosisUltrasound training courseSeattle, WASept. 8, 2002
The impact of the human genome project on the future of pediatric carePlatform presentation, National Associaton of Childrens Hospitals Annual national meeting (NACHRI)Seattle, WAJuly 1, 2002
Molecular genetics of Madelung deformity of childhoodMedical Genetics Grand Rounds, University of WashingtonSeattle, WAOct. 26, 2001
Genetic disorders and teenage mental healthPlatform Presentation, Primary Care National ConferenceSeattle, WASept. 21, 2001
Beyond the outback: Practical applications for the new geneticsPediatric Grand Rounds, University of WashingtonSeattle, WAJune 28, 2001
The practice of medical genetics in AustraliaGrand Rounds, Alaska Regional Medical CenterAnchorage, AKNov. 28, 2000

Research Funding

Grant TitleGrantorAmountAward Date
NIH R24HD00836-44Laboratory of Developmental Biology $, 474,321Jan. 31, 2011 - Jan. 31, 2016
3R24HD000836-45S1Laboratory of Developmental Biology $, 82,326Sept. 30, 2009 - Jan. 31, 2011
Gene Identification in Joubert Syndrome: To identify genetic causes of Joubert syndrome using global expression profiling and SNP mappingUniversity of Washington Royalty Research Fund $, 37,500Sept. 1, 2007 - Aug. 31, 2009
Genetic analyses of cerebellar malformations - 1K24 HD046712-01A1 $, 97,179Feb. 1, 2005 - Jan. 31, 2010
Genetics of Joubert syndrome and related disordersMarch of Dimes Endowment for Health Babies, WA Chapter $, 75,000Nov. 30, 2002 - Aug. 30, 2004
Dystrophic epidermolysis bullosa research association (DEBRA) $, 70,000Feb. 1, 2000 - Jan. 31, 2002
Role of SHOX in human short statureRoyal Children's Hospital Foundation, Brisbane, Australia $, 40,000Jan. 1, 1999 - Dec. 31, 2001
Molecular basis of Leri Weill syndromeRoyal Children's Hospital Foundation, Brisbane, Australia $$51,000Jan. 1, 1998 - Dec. 31, 2000
Role of SHOX in Leri Weill syndrome and human statureRoyal Children's Hospital Foundation, Brisbane, Australia $, 165,000Jan. 1, 1998 - Dec. 31, 2002
Molecular basis of craniofacual disordersRoyal Children's Hospital Foundation, Brisbane, Australia $, 55,000Jan. 1, 1998 - Dec. 31, 1999
Characterize the genetic basis of short statuteRoyal Children's Hospital Foundation, Brisbane, Australia $, 50,000Jan. 1, 1998 - Dec. 31, 1999
2R24HD000836-46Laboratory of Developmental Biology $, 377,568May 1, 1979 - Jan. 31, 2011
PILaboratory of Developmental Biology $$377,568May 1, 1979 - Jan. 31, 2011

Primary Office

Seattle Children's
OC.9.850 - Medical Genetics
4800 Sand Point Way NE
Seattle, WA 98105
206-987-2056

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