Ian A Glass

Ian A Glass

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Ian A Glass

Ian A Glass

Publications by authors named "Ian A Glass"

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57Publications

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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.

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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.

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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.

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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.

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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.

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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:

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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

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.

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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.

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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.

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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.

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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.

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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.

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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.

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http://link.springer.com/10.1007/s00439-005-0030-z
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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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