Ian Glass

Ian Glass

UNVERIFIED PROFILE

Are you Ian Glass?   Register this Author

Register author
Ian Glass

Ian Glass

Publications by authors named "Ian Glass"

Are you Ian Glass?   Register this Author

73Publications

2301Reads

27Profile Views

PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice.

Elife 2019 05 16;8. Epub 2019 May 16.

Center for Integrative Brain Research, Seattle Children's Research Institute, Washington, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7554/eLife.45961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6544437PMC
May 2019

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Ophthalmology 2018 12 25;125(12):1937-1952. Epub 2018 Jul 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2018.05.026DOI Listing
December 2018

Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis.

Am J Med Genet C Semin Med Genet 2018 09 27;178(3):374-378. Epub 2018 Sep 27.

Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31656DOI Listing
September 2018

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.

Am J Med Genet A 2018 07;176(7):1675-1679

Department of Medical Genetics, University of Washington Medical Center, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121735PMC
July 2018

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.

Am J Med Genet A 2018 06 25;176(6):1398-1404. Epub 2018 Apr 25.

Department of Pediatrics, University of Washington, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38726DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992090PMC
June 2018

Marijuana use differentially affects cannabinoid receptor expression in early gestational human endometrium and placenta.

Placenta 2018 06 9;66:36-39. Epub 2018 May 9.

Department of Pharmaceutics, School of Pharmacy, University of Washington, Seattle, WA 98195, United States. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.placenta.2018.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995327PMC
June 2018

Novel pregnancy-triggered episodes of CAPOS syndrome.

Am J Med Genet A 2018 01 1;176(1):235-240. Epub 2017 Nov 1.

Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726903PMC
January 2018

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Am J Hum Genet 2017 Aug;101(2):291-299

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544387PMC
August 2017

Mortality in Joubert syndrome.

Am J Med Genet A 2017 May 28;173(5):1237-1242. Epub 2017 Mar 28.

Department of Pediatrics, University of Washington, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38158DOI Listing
May 2017

Differences in Oral Structure and Tissue Interactions during Mouse vs. Human Palatogenesis: Implications for the Translation of Findings from Mice.

Front Physiol 2017 15;8:154. Epub 2017 Mar 15.

Department of Pediatrics, Division of Craniofacial Medicine, University of WashingtonSeattle, WA, USA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research InstituteSeattle, WA, USA; Department of Anatomy and Developmental Biology, Monash UniversityClayton, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fphys.2017.00154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5350148PMC
March 2017

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

Am J Med Genet A 2016 08 12;170(8):2181-5. Epub 2016 May 12.

Department of Pediatrics, University of Washington, Seattle, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37727DOI Listing
August 2016

Transcriptional landscape of the prenatal human brain.

Nature 2014 Apr 2;508(7495):199-206. Epub 2014 Apr 2.

Allen Institute for Brain Science, Seattle, Washington 98103, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature13185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105188PMC
April 2014

Microtomographic analysis of lower urinary tract obstruction.

Pediatr Dev Pathol 2013 Nov-Dec;16(6):405-14. Epub 2013 Aug 26.

1  Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2350/13-08-1359-OA.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965709PMC
February 2014

EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.

Skeletal Radiol 2012 May 4;41(5):607-10. Epub 2011 Sep 4.

Orthopaedics and Sports Medicine, Seattle Children's Hospital, 4800 Sandpoint Way NE, Seattle, WA 98105, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00256-011-1261-9DOI Listing
May 2012

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.

Acta Neuropathol 2011 Apr 21;121(4):545-54. Epub 2010 Sep 21.

Department of Neurosurgery, University of Washington, Center for Integrative Brain Research, Seattle Children's Hospital, Box C9S-10, 1900 Ninth Ave, Seattle, WA 98101, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00401-010-0748-0
Publisher Site
http://dx.doi.org/10.1007/s00401-010-0748-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059390PMC
April 2011

Eye movement abnormalities in Joubert syndrome.

Invest Ophthalmol Vis Sci 2009 Oct 14;50(10):4669-77. Epub 2009 May 14.

Division of Ophthalmology, Children's Hospital and Regional Medical Center, Seattle, Washington 98115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.08-3299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919872PMC
October 2009

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.

Epilepsia 2009 May 14;50(5):1167-75. Epub 2008 Oct 14.

Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington, and Children's Hospital and Regional Medical Center, Seattle, Washington 98195-6320, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2008.01816.xDOI Listing
May 2009

Joubert syndrome (and related disorders) (OMIM 213300).

Eur J Hum Genet 2007 May 21;15(5):511-21. Epub 2007 Mar 21.

Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195-6320, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201648DOI Listing
May 2007

A case of true hermaphroditism reveals an unusual mechanism of twinning.

Hum Genet 2007 Apr 13;121(2):179-85. Epub 2006 Dec 13.

Department of Obstetrics and Gynecology, Banner Good Samaritan Medical Center, Phoenix, AZ 85006, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-006-0279-xDOI Listing
April 2007

Aortic root dilatation is a rare complication of Noonan syndrome.

Pediatr Cardiol 2006 Jul-Aug;27(4):478-80. Epub 2006 Jul 6.

Women's & Children's Health Centre of British Columbia and Department of Pathology, Medical Genetics University of British Columbia, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-006-1210-xDOI Listing
February 2007

Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.

Eur J Med Genet 2006 Jul-Aug;49(4):346-8. Epub 2006 Jan 19.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2005.12.005DOI Listing
September 2006

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.

Neurobiol Dis 2006 Jul 27;23(1):97-108. Epub 2006 Apr 27.

Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington School of Medicine, Seattle, WA 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nbd.2006.02.007DOI Listing
July 2006

Ring chromosome 15: characterization by array CGH.

Hum Genet 2006 Jan 3;118(5):611-7. Epub 2005 Nov 3.

Department of Pediatrics, University of Washington, M2-9, 4800 Sand Point Way NE, Seattle, 98105, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00439-005-0030-z
Publisher Site
http://dx.doi.org/10.1007/s00439-005-0030-zDOI Listing
January 2006

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

Prenat Diagn 2005 Jun;25(6):442-7

University of Washington/Children's Hospital and Regional Medical Center, Department of Pediatrics, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1145DOI Listing
June 2005

Spondylometaphyseal dysplasia with cone-rod dystrophy.

Am J Med Genet A 2004 Sep;129A(3):265-76

Department of Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin 53705, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30145DOI Listing
September 2004

Genotype-phenotype correlation in congenital heart disease.

Curr Opin Cardiol 2004 May;19(3):221-7

Division of Pediatric Cardiology, Children's Hospital and Regional Medical Center, and Department of Pediatrics, University of Washington School of Medicine, Seattle, 98105, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00001573-200405000-00006DOI Listing
May 2004

Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.

Am J Med Genet A 2004 Mar;125A(2):117-24; discussion 117

Division of Genetics and Development, Department of Pediatrics, University of Washington, School of Medicine, Seattle, Washington 98195, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20438DOI Listing
March 2004

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

Am J Med Genet A 2004 03;125A(2):125-34; discussion 117

Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, California 92093-0624, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20437DOI Listing
March 2004

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.

J Child Neurol 2004 Mar;19(3):214-8

Department of Pediatrics, University of Washington, School of Medicine, Seattle 98195, USA.

View Article

Download full-text PDF

Source
March 2004

The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.

Am J Med Genet A 2004 Jan;124A(2):136-41

Queensland Clinical Genetics Service, Herston, Brisbane, Queensland, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20348DOI Listing
January 2004

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.

Am J Med Genet A 2003 Jul;120A(2):157-68

Department of Surgery, University of Queensland, Royal Brisbane Hospital, Herston Hospitals Campus, Brisbane, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20012DOI Listing
July 2003

A report of dizygous monochorionic twins.

N Engl J Med 2003 Jul;349(2):154-8

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa030050DOI Listing
July 2003

Upper limb phocomelia associated with increased nuchal translucency in a monochorionic twin pregnancy.

J Ultrasound Med 2002 Mar;21(3):355-60

Department of Medical Genetics, University of Washington Medical Center, Seattle, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7863/jum.2002.21.3.355DOI Listing
March 2002

Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.

Australas J Dermatol 2002 Feb;43(1):28-34

Department of Dermatology, St George Hospital, University of New South Wales, Sydney, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1046/j.1440-0960.2002.00548.xDOI Listing
February 2002