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 | 618 | 2010 |
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 | 313 | 2002 |
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 | 250 | 1999 |
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 | 132 | 2012 |
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 | 128 | 2008 |
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 | 126 | 2016 |
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 | 119 | 2015 |
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 | 119 | 2007 |
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 | 109 | 2006 |
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 | 106 | 2015 |
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 | 97 | 2009 |
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 | 85 | 2014 |
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 | 84 | 2007 |
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 | 81 | 2013 |
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 | 78 | 2021 |
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 | 71 | 1998 |
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 | 70 | 2019 |
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 | 65 | 2003 |
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 | 63 | 2014 |
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 | 61 | 2003 |