Publications for Robyn Jamieson
Publications for Robyn Jamieson
2016
Ewe, S., Jamieson, R., Chang, A. (2016).
Masquerade macular exudation in Mallatia
Leventinese. Canadian Journal of
Ophthalmology, 51(1), e27-e29. <a
href="http://dx.doi.org/10.1016/j.jcjo.2015.09.02
1">[More Information]</a>
Ma, A., Grigg, J., Ho, G., Prokudin, I.,
Farnsworth, E., Holman, K., Cheng, A., Billson,
F., Martin, F., Fraser, C., Christodoulou, J.,
Flaherty, M., Bennetts, B., Jamieson, R., et al
(2016). Sporadic and Familial Congenital
Cataracts: Mutational Spectrum and new
Diagnoses using Next-Generation Sequencing.
Human Mutation, 37(4), 371-384. <a
href="http://dx.doi.org/10.1002/humu.22948">[
More Information]</a>
2015
Guo, Y., Prokudin, I., Yu, C., Liang, J., Xie, Y.,
Flaherty, M., Tian, L., Crofts, S., Wang, F., et al,
Jamieson, R. (2015). Advantage of Whole
Exome Sequencing over Allele-specific and
Targeted Segment Sequencing, in Detection of
Novel TULP1 Mutation in Leber Congenital
Amaurosis. Ophthalmic Genetics, 36(4),
333-338. <a
href="http://dx.doi.org/10.3109/13816810.2014.
886269">[More Information]</a>
Greenlees, R., Mihelec, M., Yousoof, S., Speidel,
D., Wu, S., Rinkwitz, S., Prokudin, I., Perveen,
R., Cheng, A., Ma, A., Nash, B., Loebel, D.,
Grigg, J., Tam, P., Becker, T., Jamieson, R., et al
(2015). Mutations in SIPA1L3 cause eye defects
through disruption of cell polarity and
cytoskeleton organization. Human Molecular
Genetics, 24(20), 5789-5804. <a
href="http://dx.doi.org/10.1093/hmg/ddv298">[
More Information]</a>
Zagora, S., Funnell, C., Martin, F., Smith, J.,
Hing, S., Billson, F., Veillard, A., Jamieson, R.,
Grigg, J. (2015). Primary Congenital Glaucoma
outcomes: Lessons from 23 years of follow-up.
American Journal of Ophthalmology, 159(4),
788-796.e2. <a
href="http://dx.doi.org/10.1016/j.ajo.2015.01.01
9">[More Information]</a>
Nash, B., Wright, D., Grigg, J., Bennetts, B.,
Jamieson, R. (2015). Retinal dystrophies,
genomic applications in diagnosis and prospects
for therapy. Translational Pediatrics, 4(2),
139-163. <a
href="http://dx.doi.org/10.3978/j.issn.2224-4336.
2015.04.03">[More Information]</a>
Prokudin, I., Li, D., He, S., Guo, Y., Goodwin,
L., Wilson, M., Rose, L., Tian, L., Chen, Y.,
Liang, J., Jamieson, R., et al (2015). Value of
whole exome sequencing for syndromic retinal
dystrophy diagnosis in young patients. Clinical
and Experimental Ophthalmology, 43(2),
132-138. <a
href="http://dx.doi.org/10.1111/ceo.12391">[Mo
re Information]</a>
2014
Utami, K., Hillmer, A., Aksoy, I., Chew, E., Teo,
A., Zhang, Z., Lee, C., Chen, P., Seng, C.,
Yousoof, S., Prokudin, I., Jamieson, R., et al
(2014). Detection of Chromosomal Breakpoints
in Patients with Developmental Delay and
Speech Disorders. PloS One, 9(3), 1-10. <a
href="http://dx.doi.org/10.1371/journal.pone.009
0852">[More Information]</a>
Prokudin, I., Simons, C., Grigg, J., Storen, R.,
Kumar, V., Phua, Z., Smith, J., Flaherty, M.,
Davila, S., Jamieson, R. (2014). Exome
sequencing in developmental eye disease leads to
identfication of causal variants in GJA8,
CRYGC, PAX6 and CYP1B1. European Journal
of Human Genetics, 22(7), 907-915. <a
href="http://dx.doi.org/10.1038/ejhg.2013.268">
[More Information]</a>
2013
Ng, W., Pasutto, F., Bardakjian, T., Wilson, M.,
Watson, G., Schneider, A., Mackey, D., Grigg,
J., Zenker, M., Jamieson, R. (2013). A puzzle
over several decades: eye anomalies with FRAS1
and STRA6 mutations in the same family.
Clinical Genetics, 83(2), 162-168. <a
href="http://dx.doi.org/10.1111/j.1399-0004.201
2.01851.x">[More Information]</a>
Gurbaxani, A., Wei, M., Succar, T., McCluskey,
P., Jamieson, R., Grigg, J. (2013). Acetazolamide
in Retinoschisis: A Prospective Study.
Ophthalmology, 121(3), 802-803. <a
href="http://dx.doi.org/10.1016/j.ophtha.2013.10
.025">[More Information]</a>
Jamieson, R., Grigg, J. (2013). Clinical
Embryology and Development of the Eye. In
Creig S. Hoyt and David Taylor (Eds.), Pediatric
Ophthalmology and Strabismus Fourth Edition,
(pp. 9-15). Edinburgh: Saunders Elsevier.
Gupta, V., Jamieson, R., Schimmenti, L., Grigg,
J., Mackey, D. (2013). Genetics. In R. N.
Weinreb, A. L. Grajewski, M. Papadopoulos, J.
Grigg, S. Freedman (Eds.), Childhood
Glaucoma, (pp. 43-60). Amsterdam: Kugler
Publications.
Skalicky, S., White, A., Grigg, J., Martin, F.,
Smith, J., Jones, M., Donaldson, C., Smith, J.,
Flaherty, M., Jamieson, R. (2013).
Microphthalmia, Anophthalmia, and Coloboma
and Associated Ocular and Systemic Features:
Understanding the Spectrum. JAMA
Publications for Robyn Jamieson
Ophthalmology, 131(12), 1517-1524. <a
href="http://dx.doi.org/10.1001/jamaophthalmol.
2013.5305">[More Information]</a>
Grigg, J., Jamieson, R. (2013). Phakomatoses.
In Creig S. Hoyt and David Taylor (Eds.),
Pediatric Ophthalmology and Strabismus Fourth
Edition, (pp. 675-689). Edinburgh: Saunders
Elsevier.
Grigg, J., Holder, G., Billson, F., Korsakova, M.,
Jamieson, R. (2013). The importance of
electrophysiology in revealing a complete
homozygous deletion of KCNV2. Journal of
American Association for Pediatric
Ophthalmology and Strabismus, 17(6), 641-643.
<a
href="http://dx.doi.org/10.1016/j.jaapos.2013.08.
006">[More Information]</a>
2012
Cederquist, G., Luchniak, A., Tischfield, M.,
Peeva, M., Song, Y., Menezes, M., Chan, W.,
Andrews, C., Chew, S., Jamieson, R., Gomes, L.,
et al (2012). An inherited TUBB2B mutation
alters a kinesin-binding site and causes
polymicrogyria, CFEOM and axon
dysinnervation. Human Molecular Genetics,
21(26), 5484-5499. <a
href="http://dx.doi.org/10.1093/hmg/dds393">[
More Information]</a>
Chang, J., Jang, J., Jamieson, R., Grigg, J.
(2012). Long-Term Follow-Up Study of
Autosomal Dominant Optic Atrophy in an
Australian Population. Asia-Pacific Journal of
Ophthalmology, 1(2), 88-90. <a
href="http://dx.doi.org/10.1097/APO.0b013e318
24a65b1">[More Information]</a>
Leger, S., Balguerie, X., Goldenberg, A.,
Drouin-Garraud, V., Cabot, A.,
Amstutz-Montadert, I., Young, P., Joly, P.,
Bodereau, V., Holder-Espinasse, M., Jamieson,
R., et al (2012). Novel and recurrent
non-truncating mutations of the MITF basic
domain: genotypic and phenotypic variations in
Waardenburg and Tietz syndromes. European
Journal of Human Genetics, 20(5), 584-587. <a
href="http://dx.doi.org/10.1038/ejhg.2011.234">
[More Information]</a>
2011
Stark, Z., Storen, R., Bennetts, B., Savarirayan,
R., Jamieson, R. (2011). Isolated
hypogonadotropic hypogonadism with SOX2
mutation and anophthalmia/microphthalmia in
offspring. European Journal of Human Genetics,
19(7), 753-756. <a
href="http://dx.doi.org/10.1038/ejhg.2011.11">[
More Information]</a>
2010
Tischfield, M., Baris, H., Wu, C., Rudolph, G.,
Van Maldergem, L., He, W., Chan, W.,
Andrews, C., Demer, J., Jamieson, R., et al
(2010). Human TUBB3 Mutations Perturb
Microtubule Dynamics, Kinesin Interactions, and
Axon Guidance. Cell, 140(1), 74-87. <a
href="http://dx.doi.org/10.1016/j.cell.2009.12.01
1">[More Information]</a>
Weaving, L., Mihelec, M., Storen, R., Sosic, D.,
Grigg, J., Tam, P., Jamieson, R. (2010). Twist2:
Role in Corneal Stromal Keratocyte Proliferation
and Corneal Thickness. Investigative
Ophthalmology and Visual Science, 51(11),
5561-5570. <a
href="http://dx.doi.org/10.1167/iovs.09-5123">[
More Information]</a>
2009
Flaherty, M., Balachandran, C., Jamieson, R.,
Engle, E. (2009). Congenital fibrosis of the
extraocular muscles type 1, distinctive
conjunctival changes and intrapapillary disc
colobomata. Ophthalmic Genetics, 30(2), 91-95.
<a
href="http://dx.doi.org/10.1080/1381681080269
7473">[More Information]</a>
Mihelec, M., Abraham, P., Gibson, K., Krowka,
R., Susman, R., Storen, R., Chen, Y., Donald, J.,
Tam, P., Flaherty, M., Grigg, J., Jamieson, R., et
al (2009). Novel SOX2 partner-factor domain
mutation in a four-generation family. European
Journal of Human Genetics, 17(11), 1417-1422.
<a
href="http://dx.doi.org/10.1038/ejhg.2009.79">[
More Information]</a>
Sharan, S., Swamy, B., Taranath, A., Jamieson,
R., Yu, T., Wargon, O., Grigg, J. (2009).
Port-wine vascular malformations and glaucoma
risk in Sturge-Weber syndrome. Journal of
American Association for Pediatric
Ophthalmology and Strabismus, 13(4), 374-378.
<a
href="http://dx.doi.org/10.1016/j.jaapos.2009.04.
007">[More Information]</a>
2008
Mihelec, M., St Heaps, L., Flaherty, M., Billson,
F., Rudduck, C., Tam, P., Grigg, J., Peters, G.,
Jamieson, R. (2008). Chromosomal
Rearrangements and Novel Genes in Disorders
of Eye Development, Cataract and Glaucoma.
Twin Research and Human Genetics, 11(4),
412-421. <a
href="http://dx.doi.org/10.1375/twin.11.4.412">[
More Information]</a>
Lewis, S., Khoo, P., Young, A., Steiner, K.,
Willcock, C., Mukhopadhyay, M., Westphal, H.,
Jamieson, R., Robb, L., Tam, P. (2008). Dkk1
and Wnt3 interact to control head morphogenesis
Publications for Robyn Jamieson
in the mouse. Development (Cambridge),
135(10), 1791-1801. <a
href="http://dx.doi.org/10.1242/dev.018853">[M
ore Information]</a>
ectropion as an indicator of variant aniridia.
British Journal of Ophthalmology, 90(5),
658-659.
2007
Nolen, L., Amor, D., Haywood, A., St. Heaps,
L., Willcock, C., Mihelec, M., Tam, P., Billson,
F., Grigg, J., Peters, G., Jamieson, R. (2006).
Deletion at 14q22-23 indicates a contiguous gene
syndrome comprising anophthalmia, pituitary
hypoplasia, and ear anomalies. American Journal
of Medical Genetics. Part A, 140(16),
1711-1718. <a
href="http://dx.doi.org/10.1002/ajmg.a.31335">[
More Information]</a>
Perveen, R., Favor, J., Jamieson, R., Ray, D.,
Black, G. (2007). A heterozygous c-Maf
transactivation domain mutation causes
congenital cataract and enhances target gene
activation. Human Molecular Genetics, 16(9),
1030-1038. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17374726">[More Information]</a>
Palmer, S., Tay, E., Santucci, N., Bach, C.,
Hook, J., Lemckert, F., Jamieson, R., Gunning,
P., Hardeman, E. (2006). Expression of Gtf2ird1,
the Williams syndrome-associated gene, during
mouse development. Gene Expression Patterns,
7, 396-404. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17239664">[More Information]</a>
Jamieson, R., Farrar, N., Stewart, K., Perveen,
R., Mihelec, M., Carette, M., Grigg, J., McAvoy,
J., Lovicu, F., Tam, P., et al (2007).
Characterization of a familial t(16;22) balanced
translocation associated with congenital cataract
leads to identification of a novel gene,
TMEM114, expressed in the lens and disrupted
by the translocation. Human Mutation, 28(10),
968-977. <a
href="http://dx.doi.org/10.1002/humu.20545">[
More Information]</a>
2005
Sharma, S., Burdon, K., Dave, A., Jamieson, R.,
Yaron, Y., Billson, F., Van Maldergem, L.,
Lorenz, B., Gécz, J., Craig, J. (2008). Novel
causative mutations in patients with
Nance-Horan syndrome and altered localization
of the mutant NHS-A protein isoform. Molecular
Vision, 14(October, 2008), 1856-1864.
Arvind Srinivasan, H., Hunyor, A., McClellan,
K., Billson, F., Grigg, J., Jamieson, R. (2007).
Management of intraoperative tilting of the
scleral-fixated intraocular lens in classical
aniridia. British Journal of Ophthalmology,
91(9), 1247-1248. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17709587">[More Information]</a>
Hewitt, A., Kearns, L., Jamieson, R.,
Williamson, K., van Heyningen, V., Mackey, D.
(2007). PAX6 mutations may be associated with
high myopia. Ophthalmic Genetics, 28(3),
179-182.
Swamy, B., Billson, F., Martin, F., Donaldson,
C., Hing, S., Smith, J., Jamieson, R., Grigg, J.
(2007). Secondary glaucoma after paediatric
cataract surgery. British Journal of
Ophthalmology, 91(5), 1627-1630. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17475699">[More Information]</a>
2006
Willcock, C., Grigg, J., Wilson, M., Tam, P.,
Billson, F., Jamieson, R. (2006). Congenital iris
Grigg, J., Jamieson, R. (2005). Phakomatoses.
In David Taylor, Creig S. Hoyt (Eds.), Pediatric
Ophthamology and Strabismus - 3rd Edition,
(pp. 745-753). United Kingdom: Saunders
Elsevier.
2003
Lyon, M., Jamieson, R., Perveen, R., Glenister,
P., Griffiths, R., Boyd, Y., Glimcher, L., Favor,
J., Munier, F., Black, G. (2003). A dominant
mutation within the DNA-binding domain ofthe
bZIP transcription factor Maf causes murine
cataract and results in selective alteration in
DNA binding. Human Molecular Genetics,
12(6), 585-594.
Jamieson, R., Gaunt, L., Donnai, D., Black, G.,
Kerr, B., Stecko, O. (2003). Chromosomal
translocation in a family with ocular anomalies:
indications for karyotype analysis. British
Journal of Ophthalmology, 87(5), 646-648.
Jamieson, R., Munier, F., Balmer, A., Farrar, N.,
Perveen, R., Black, G. (2003). Purverulent
cataract with variably associated microcornea
and iris coloboma in a MAF mutation family.
British Journal of Ophthalmology, 87(4),
411-412.