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Robyn Jamieson
Robyn Jamieson
Sydney University
Verified email at cmri.org.au - Homepage
Title
Cited by
Cited by
Year
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
MA Tischfield, HN Baris, C Wu, G Rudolph, L Van Maldergem, W He, ...
Cell 140 (1), 74-87, 2010
6102010
Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma
RV Jamieson, R Perveen, B Kerr, M Carette, J Yardley, E Heon, MG Wirth, ...
Human molecular genetics 11 (1), 33-42, 2002
3102002
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
ÁK Gedeon, A Colley, R Jamieson, EM Thompson, J Rogers, D Sillence, ...
Nature genetics 22 (4), 400-404, 1999
2461999
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
GY Cederquist, A Luchniak, MA Tischfield, M Peeva, Y Song, ...
Human molecular genetics 21 (26), 5484-5499, 2012
1302012
Dkk1 and Wnt3 interact to control head morphogenesis in the mouse
SL Lewis, PL Khoo, RA De Young, K Steiner, C Wilcock, ...
Oxford University Press for The Company of Biologists Limited 135 (10), 1791 …, 2008
1272008
Sporadic and familial congenital cataracts: Mutational spectrum and new diagnoses using next‐generation sequencing
AS Ma, JR Grigg, G Ho, I Prokudin, E Farnsworth, K Holman, A Cheng, ...
Human mutation 37 (4), 371-384, 2016
1252016
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
BM Nash, DC Wright, JR Grigg, B Bennetts, RV Jamieson
Translational pediatrics 4 (2), 139, 2015
1182015
Secondary glaucoma after paediatric cataract surgery
BN Swamy, F Billson, F Martin, C Donaldson, S Hing, R Jamieson, J Grigg, ...
British journal of ophthalmology 91 (12), 1627-1630, 2007
1172007
Deletion at 14q22‐23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies
LD Nolen, D Amor, A Haywood, L St. Heaps, C Willcock, M Mihelec, ...
American Journal of Medical Genetics Part A 140 (16), 1711-1718, 2006
1082006
Primary congenital glaucoma outcomes: lessons from 23 years of follow-up
SL Zagora, CL Funnell, FJ Martin, JEH Smith, S Hing, FA Billson, ...
American journal of ophthalmology 159 (4), 788-796. e2, 2015
1042015
Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome
S Sharan, B Swamy, DA Taranath, R Jamieson, T Yu, O Wargon, JR Grigg
Journal of American Association for Pediatric Ophthalmology and Strabismus …, 2009
942009
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1
I Prokudin, C Simons, JR Grigg, R Storen, V Kumar, ZY Phua, J Smith, ...
European Journal of Human Genetics 22 (7), 907-915, 2014
852014
PAX6 Mutations May Be Associated with High Myopia
AW Hewitt, LS Kearns, RV Jamieson, KA Williamson, V van Heyningen, ...
Ophthalmic Genetics 28 (3), 179-182, 2007
842007
Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum
SE Skalicky, AJR White, JR Grigg, F Martin, J Smith, M Jones, ...
JAMA ophthalmology 131 (12), 1517-1524, 2013
802013
Gene selection for the Australian reproductive genetic carrier screening project (“Mackenzie’s Mission”)
EP Kirk, R Ong, K Boggs, T Hardy, S Righetti, B Kamien, T Roscioli, ...
European Journal of Human Genetics 29 (1), 79-87, 2021
752021
mtDNA mutations that cause optic neuropathy: how do we know?
N Howell, C Bogolin, R Jamieson, DR Marenda, DA Mackey
The American Journal of Human Genetics 62 (1), 196-202, 1998
711998
Neurofibromatosis type 1: review and update on emerging therapies
T Karaconji, E Whist, RV Jamieson, MP Flaherty, JRB Grigg
The Asia-Pacific Journal of Ophthalmology 8 (1), 62-72, 2019
682019
A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding
MF Lyon, RV Jamieson, R Perveen, PH Glenister, R Griffiths, Y Boyd, ...
Human molecular genetics 12 (6), 585-594, 2003
652003
Detection of chromosomal breakpoints in patients with developmental delay and speech disorders
KH Utami, AM Hillmer, I Aksoy, EGY Chew, ASM Teo, Z Zhang, CWH Lee, ...
PloS one 9 (3), e90852, 2014
612014
Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family
RV Jamieson, F Munier, A Balmer, N Farrar, R Perveen, GCM Black
British journal of ophthalmology 87 (4), 411-412, 2003
602003
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