Publications by authors named "Robyn V Jamieson"

37Publications

Surgical Treatment for SWS Glaucoma: Experience from a Tertiary Referral Paediatric Hospital.

J Glaucoma 2020 Aug 26. Epub 2020 Aug 26.

*Discipline of Ophthalmology, Save Sight Institute, Sydney Medical School, The University of Sydney †Department of Ophthalmology, The Children's Hospital, Westmead ‡TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, The Sydney Children's Hospitals Network, Australia §Disciplines of Paediatrics, Genetic Medicine, & Ophthalmology, Sydney Medical School, The University of Sydney ∥Eye Genetics Research Group Children's Medical Research Institute, The Children's Hospital at Westmead and Eye Genetics Clinics, The Children's Hospital at Westmead.

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http://dx.doi.org/10.1097/IJG.0000000000001645DOI Listing
August 2020

Outcome measures in juvenile X-linked retinoschisis: A systematic review.

Eye (Lond) 2020 Oct 20;34(10):1760-1769. Epub 2020 Apr 20.

Discipline of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, Save Sight Institute, 8 Macquarie Street, Sydney, NSW, 2001, Australia.

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http://dx.doi.org/10.1038/s41433-020-0848-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608480PMC
October 2020

Biomarkers in Usher syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings.

Doc Ophthalmol 2020 12 2;141(3):205-215. Epub 2020 Apr 2.

The Discipline of Clinical Ophthalmology and Eye Health, Save Sight Institute, Sydney Eye Hospital, Faculty of Medicine and Health, The University of Sydney, 8 Macquarie Street, Sydney, NSW, 2001, Australia.

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http://dx.doi.org/10.1007/s10633-020-09765-0DOI Listing
December 2020

Neurofibromatosis Type 1: Review and Update on Emerging Therapies.

Asia Pac J Ophthalmol (Phila) 2019 Jan-Feb;8(1):62-72. Epub 2018 Nov 2.

Discipline of Ophthalmology, Save Sight Institute, Sydney Medical School, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.22608/APO.2018182DOI Listing
March 2019

Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature.

J Med Genet 2018 12 4;55(12):785-793. Epub 2018 Oct 4.

Children's Cancer Research Unit, Kids Research and Discipline of Child and Adolescent Health, University of Sydney, Westmead, New South Wales, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2018-105488DOI Listing
December 2018

NMNAT1 variants cause cone and cone-rod dystrophy.

Eur J Hum Genet 2018 03 28;26(3):428-433. Epub 2017 Nov 28.

Eye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1038/s41431-017-0029-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839026PMC
March 2018

Changing patterns in paediatric optic atrophy aetiology: 1979 to 2015.

Clin Exp Ophthalmol 2016 Sep 18;44(7):574-581. Epub 2016 Apr 18.

Department of Ophthalmology, The Children's Hospital at Westmead, Westmead, Australia.

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http://dx.doi.org/10.1111/ceo.12734DOI Listing
September 2016

Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.

Transl Pediatr 2015 Apr;4(2):139-63

1 Eye Genetics Research Group, Children's Medical Research Institute, University of Sydney, The Children's Hospital at Westmead and Save Sight Institute, Sydney, NSW, Australia ; 2 Sydney Genome Diagnostics, The Children's Hospital at Westmead, Sydney, NSW, Australia ; 3 Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW, Australia.

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http://dx.doi.org/10.3978/j.issn.2224-4336.2015.04.03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729094PMC
April 2015

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Hum Mutat 2016 Apr 14;37(4):371-84. Epub 2016 Jan 14.

Eye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/humu.22948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4787201PMC
April 2016

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

Hum Mol Genet 2015 Oct 30;24(20):5789-804. Epub 2015 Jul 30.

Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia,

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http://dx.doi.org/10.1093/hmg/ddv298DOI Listing
October 2015

Primary congenital glaucoma outcomes: lessons from 23 years of follow-up.

Am J Ophthalmol 2015 Apr 26;159(4):788-96. Epub 2015 Jan 26.

Discipline of Ophthalmology, University of Sydney, Sydney, NSW, Australia; Eye and Developmental Genetics Research Group, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, NSW, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00029394150004
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http://dx.doi.org/10.1016/j.ajo.2015.01.019DOI Listing
April 2015

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.

Clin Exp Ophthalmol 2015 Mar 2;43(2):132-8. Epub 2014 Oct 2.

Eye and Developmental Genetics Research Group, The Children's Hospital at Westmead, Sydney, New South Wales, Australia; Eye Genetics Group, Children's Medical Research Institute, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/ceo.12391DOI Listing
March 2015

Acetazolamide in retinoschisis: a prospective study.

Ophthalmology 2014 Mar 2;121(3):802-3.e3. Epub 2013 Dec 2.

Save Sight Institute, Discipline of Ophthalmology, Sydney Eye Hospital Campus, The University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.ophtha.2013.10.025DOI Listing
March 2014

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Eur J Hum Genet 2014 Jul 27;22(7):907-15. Epub 2013 Nov 27.

1] Eye and Developmental Genetics Research Group, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia [2] Children's Medical Research Institute, Sydney, NSW, Australia [3] Discipline of Ophthalmology and Save Sight Institute, University of Sydney, Sydney, NSW, Australia [4] Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1038/ejhg.2013.268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060118PMC
July 2014

The importance of electrophysiology in revealing a complete homozygous deletion of KCNV2.

J AAPOS 2013 Dec 7;17(6):641-3. Epub 2013 Nov 7.

Save Sight Institute, Discipline of Ophthalmology, Sydney Eye Hospital Campus, The University of Sydney, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2013.08.006DOI Listing
December 2013

Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.

JAMA Ophthalmol 2013 Dec;131(12):1517-24

Discipline of Ophthalmology, University of Sydney, New South Wales, Australia2Eye and Developmental Genetics Research Group, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia4Children's Medical Research Institute, Westmead, Sydney, New South Wales, Australia5Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1001/jamaophthalmol.2013.5305DOI Listing
December 2013

Long-Term Follow-Up Study of Autosomal Dominant Optic Atrophy in an Australian Population.

Asia Pac J Ophthalmol (Phila) 2012 Mar-Apr;1(2):88-90

From the *Save Sight Institute, University of Sydney, Sydney Eye Hospital Campus, Sydney, New South Wales; †South Australian Institute of Ophthalmology, Royal Adelaide Hospital, North Terrace, Adelaide South Australia; and ‡Genetic Eye Research Group, Children's Medical Research Institute, The Children's Hospital at Westmead, University of Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1097/APO.0b013e31824a65b1DOI Listing
June 2015

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.

Eur J Hum Genet 2011 Jul 16;19(7):753-6. Epub 2011 Feb 16.

Genetic Health Services Victoria, and Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://www.nature.com/articles/ejhg201111
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http://dx.doi.org/10.1038/ejhg.2011.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137491PMC
July 2011

Twist2: role in corneal stromal keratocyte proliferation and corneal thickness.

Invest Ophthalmol Vis Sci 2010 Nov 23;51(11):5561-70. Epub 2010 Jun 23.

Eye Genetics Research Group, Embryology, Children's Medical Research Institute, The Children's Hospital at Westmead, Save Sight Institute, Sydney, NSW, Australia.

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http://dx.doi.org/10.1167/iovs.09-5123DOI Listing
November 2010

Novel SOX2 partner-factor domain mutation in a four-generation family.

Eur J Hum Genet 2009 Nov 27;17(11):1417-22. Epub 2009 May 27.

The Children's Hospital at Westmead, Children's Medical Research Institute and Save Sight Institute, Sydney, NSW, Australia.

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http://dx.doi.org/10.1038/ejhg.2009.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986670PMC
November 2009

Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.

Twin Res Hum Genet 2008 Aug;11(4):412-21

Eye Genetics Research Group, Children's Medical Research Institute, The Children's Hospital at Westmead and Save Sight Institute, Sydney, Australia.

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http://dx.doi.org/10.1375/twin.11.4.412DOI Listing
August 2008

Dkk1 and Wnt3 interact to control head morphogenesis in the mouse.

Development 2008 May 9;135(10):1791-801. Epub 2008 Apr 9.

Children's Medical Research Institute, University of Sydney, Wentworthville, New South Wales, NSW 2145, Australia.

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http://dev.biologists.org/cgi/doi/10.1242/dev.018853
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http://dx.doi.org/10.1242/dev.018853DOI Listing
May 2008

PAX6 mutations may be associated with high myopia.

Ophthalmic Genet 2007 Sep;28(3):179-82

Department of Ophthalmology, Flinders University, Adelaide, Australia.

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http://dx.doi.org/10.1080/13816810701356676DOI Listing
September 2007

Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.

Gene Expr Patterns 2007 Feb 1;7(4):396-404. Epub 2006 Dec 1.

Muscle Development Unit, Children's Medical Research Institute, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1016/j.modgep.2006.11.008DOI Listing
February 2007

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

Am J Med Genet A 2006 Aug;140(16):1711-8

Eye Genetics Research Group, Children's Medical Research Institute, The Children's Hospital at Westmead and Save Sight Institute, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.31335DOI Listing
August 2006