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Items where Author is "Staffieri, SE"

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Number of items: 9.

Article

Iglesias, AI, Mishra, A, Vitart, V, Bykhovskaya, Y, Hohn, R, Springelkamp, H, Cuellar-Partida, G, Gharahkhani, P, Cooke Bailey, JN, Willoughby, CE, Li, Xiaohui, Yazar, S, Nag, A, Khawaja, AP, Polasek, O, Siscovick, D, Mitchell, P, Tham, YC, Haines, JL, Kearns, LS, Hayward, C, Shi, Y, van Leeuwen, EM, Taylor, KD, Bonnemaijer, P, Rotter, JI, Martin, NG, Zeller, T, Mills, RA, Staffieri, SE, Jonas, JB, Schmidtmann, I, Boutin, T, Kang, JH, Lucas, SEM ORCID: 0000-0003-0104-5406, Wong, TY, Beutel, ME, Wilson, JF, Uitterlinden, AG, Vithana, EN, Foster, PJ, Hysi, PG, Hewitt, AW ORCID: 0000-0002-5123-5999, Khor, CC, Pasquale, LR, Montgomery, GW, Klaver, CCW, Aung, T, Pfeiffer, N, Mackey, DA, Hammond, CJ, Cheng, CY, Craig, JE, Rabinowitz, YS, Wiggs, JL, Burdon, KP ORCID: 0000-0001-8217-1249, van Duijn, CM and MacGregor, S 2018 , 'Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases' , Nature Communications, vol. 9, no. 1 , pp. 1-11 , doi: 10.1038/s41467-018-03646-6.

Javadiyan, S, Craig, JE, Souzeau, E, Sharma, Shiwani, Lower, KM, Mackey, DA, Staffieri, SE, Elder, JE, Taranath, D, Straga, T, Black, J, Pater, J, Casey, T, Hewitt, AW ORCID: 0000-0002-5123-5999 and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia' , G3: Genes, Genomes, Genetics, vol. 7, no. 10 , pp. 3257-3268 , doi: 10.1534/g3.117.300109.

Shaaban, S, MacKinnon, S, Andrews, C, Staffieri, SE, Maconachie, GDE, Chan, W-M, Whitman, MC, Morton, SU, Yazar, S, MacGregor, S, Elder, JE, Traboulsi, EI, Gottlob, I, Hewitt, AW ORCID: 0000-0002-5123-5999, Hunter, DG, Mackey, DA and Engle, EC 2018 , 'Genome-wide association study identifies a susceptibility locus for comitant esotropia and suggests a parent-of-origin effect' , Investigative Ophthalmology & Visual Science, vol. 59, no. 10 , pp. 4054-4064 , doi: 10.1167/iovs.18-24082.

Siggs, OM, Awadalla, MS, Souzeau, E, Staffieri, SE, Kearns, LS, Laurie, K, Kuot, A, Qassim, A, Edwards, TL, Coote, MA, Mancel, E, Walland, MJ, Dondey, J, Galanopoulous, A, Casson, RJ, Mills, RA, MacArthur, DG, Ruddle, JB, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2020 , 'The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort' , Clinical Genetics, vol. 97, no. 5 , pp. 764-769 , doi: 10.1111/cge.13722.

Siggs, OM, Souzeau, E, Pasutto, F, Dubowsky, A, Smith, JEH, Taranath, D, Pater, J, Rait, JL, Narita, A, Mauri, L, Del Longo, A, Reis, A, Chappell, A, Kearns, LS, Staffieri, SE, Elder, JE, Ruddle, JB, Hewitt, AW ORCID: 0000-0002-5123-5999, Burdon, KP ORCID: 0000-0001-8217-1249, Mackey, DA and Craig, JE 2019 , 'Prevalence of FOXC1 variants in individuals with a suspected diagnosis of primary congenital glaucoma' , JAMA Ophthalmology, no. Januar , E1-E8 , doi: 10.1001/jamaophthalmol.2018.5646.

Siggs, OM, Souzeau, E, Taranath, DA, Dubowsky, A, Chappell, A, Zhou, T, Javadiyan, S, Nicholl, J, Kearns, LS, Staffieri, SE, Narita, A, Smith, JEH, Pater, J, Hewitt, AW ORCID: 0000-0002-5123-5999, Ruddle, JB, Elder, JE, Mackey, DA, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2020 , 'Biallelic CPAMD8 variants are a frequent cause of childhood and juvenile open-angle glaucoma' , Ophthalmology, vol. 127, no. 6 , pp. 758-766 , doi: 10.1016/j.ophtha.2019.12.024.

Souzeau, E, Siggs, OM, Zhou, T, Galanopoulos, A, Hodson, T, Taranath, D, Mills, RA, Landers, J, Pater, J, Smith, JE, Elder, JE, Rait, JL, Giles, P, Phakey, V, Staffieri, SE, Kearns, LS, Dubowsky, A, Mackey, DA, Hewitt, AW ORCID: 0000-0002-5123-5999, Ruddle, JB, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017 , 'Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants' , European Journal of Human Genetics, vol. 25, no. 7 , pp. 839-847 , doi: 10.1038/ejhg.2017.59.

Staffieri, SE, Kearns, LS, Sanfilippo, PG, Craig, JE, Mackey, DA and Hewitt, AW ORCID: 0000-0002-5123-5999 2018 , 'Crowd-sourced ontology for photoleukocoria: Identifying common internet search terms for a potentially important pediatric ophthalmic sign' , Translational Vision Science and Technology, vol. 7, no. 1 , pp. 1-9 , doi: 10.1167/tvst.7.1.18.

Staffieri, SE, Rees, G, Sanfilippo, PG, Cole, S, Mackey, DA and Hewitt, AW ORCID: 0000-0002-5123-5999 2020 , 'Improving parents' knowledge of early signs of paediatric eye disease: a double-blind randomized controlled trial' , Clinical and Experimental Ophthalmology , pp. 1-11 , doi: 10.1111/ceo.13866.

This list was generated on Tue Oct 26 02:12:26 2021 AEDT.
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