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Ian A. Glass, MB ChB, MD

Ian A. Glass, MB ChB, MD

Craniofacial, Genetics

On staff since November 2000

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

Academic Title: Professor

Overview

Board Certification(s)
Clinical Genetics (MD)
Medical/Professional School
University of Otago, Dunedin
University of Otago, Dunedin
Residency
Queen Elizabeth Hospital for Children, London, Pediatrics
University College Hospital - London UK, London, Pediatrics
Royal Hospital for Sick Children, Glasgow, Pediatrics
Birmingham Maternity Hospital, Birmingham, Medical Genetics
Fellowship
University of California - San Francisco, San Francisco, Medical Genetics
Mount Sinai School of Medicine, New York, Clinical Genetics
Research Focus Area

Genetics and Developmental Biology

Publications

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
Acta neuropathologica , 2010 Sep 21:
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Epilepsia , 2009 May: 1167-75
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
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
American journal of human genetics , 2008 Aug: 170-9
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
Molecular Cytogenetics , 2008 Apr 21: 7
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Nature genetics , 2007 Jul: 882-8
Joubert syndrome (and related disorders) (OMIM 213300).
European journal of human genetics : EJHG , 2007 May: 511-21
A case of true hermaphroditism reveals an unusual mechanism of twinning.
Human genetics , 2007 Apr: 179-85
Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
European journal of medical genetics , 2006 Jul-Aug: 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: 97-108
Aortic root dilatation is a rare complication of Noonan syndrome.
Pediatric cardiology , 2006 Jul-Aug: 478-80
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Nature genetics , 2006 Jun: 674-81
Ring chromosome 15: characterization by array CGH.
Human genetics , 2006 Jan: 611-7
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Prenatal diagnosis , 2005 Jun: 442-7
Spondylometaphyseal dysplasia with cone-rod dystrophy.
American journal of medical genetics. Part A , 2004 Sep 1: 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
Genotype-phenotype correlation in congenital heart disease.
Current opinion in cardiology , 2004 May: 221-7
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: 125-34; 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: 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
An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
Epilepsia , 2003 Dec: 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
A report of dizygous monochorionic twins.
The New England journal of medicine , 2003 Jul 10: 154-8

Primary Office

Seattle Children's
A-7937 - Medical Genetics
4800 Sand Point Way NE
Seattle, WA 98105
206-987-2056

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