Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis von Ma, A. S., Grigg, J. R., Jamieson, R. V.

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Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment von COCHAT, Pierre, HULTON, Sally-Anne, JAMIESON, Neville V, KEMPER, Markus J, MANDRILE, Giorgia, MARANGELLA, Martino, PICCA, Stefano, RUMSBY, Gill, SALIDO, Eduardo, STRAUB, Michael, WOERDEN, Christiaan S. Van, ACQUAVIVA, Cecile, DANPURE, Christopher J, DAUDON, Michel, DE MARCHI, Mario, FARGUE, Sonia, GROOTHOFF, Jaap, HARAMBAT, Jerome, HOPPE, Bernd

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Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing von Ma, Alan S., Grigg, John R., Ho, Gladys, Prokudin, Ivan, Farnsworth, Elizabeth, Holman, Katherine, Cheng, Anson, Billson, Frank A., Martin, Frank, Fraser, Clare, Mowat, David, Smith, James, Christodoulou, John, Flaherty, Maree, Bennetts, Bruce, Jamieson, Robyn V.

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Comprehensive characterization of fetal and mature retinal cell identity to assess the fidelity of retinal organoids von Kim, Hani Jieun, O’Hara-Wright, Michelle, Kim, Daniel, Loi, To Ha, Lim, Benjamin Y., Jamieson, Robyn V., Gonzalez-Cordero, Anai, Yang, Pengyi

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Primary Congenital Glaucoma Outcomes: Lessons From 23 Years of Follow-up von Zagora, Sophia L, Funnell, Charlotte L, Martin, Frank J, Smith, James E.H, Hing, Stephen, Billson, Francis A, Veillard, Anne-Sophie, Jamieson, Robyn V, Grigg, John R

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AAV capsid bioengineering in primary human retina models von Westhaus, Adrian, Eamegdool, Steven S., Fernando, Milan, Fuller-Carter, Paula, Brunet, Alicia A., Miller, Annie L., Rashwan, Rabab, Knight, Maddison, Daniszewski, Maciej, Lidgerwood, Grace E., Pébay, Alice, Hewitt, Alex, Santilli, Giorgia, Thrasher, Adrian J., Carvalho, Livia S., Gonzalez-Cordero, Anai, Jamieson, Robyn V., Lisowski, Leszek

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Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies von Nash, Benjamin M, Ma, Alan, Ho, Gladys, Farnsworth, Elizabeth, Minoche, Andre E, Cowley, Mark J, Barnett, Christopher, Smith, Janine M, Loi, To Ha, Wong, Karen, St Heaps, Luke, Wright, Dale, Dinger, Marcel E, Bennetts, Bruce, Grigg, John R, Jamieson, Robyn V

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An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation von CEDERQUIST, Gustav Y, LUCHNIAK, Anna, GOMES, Lavier, FLAHERTY, Maree, GRANT, Patricia Ellen, GUPTA, Mohan L, ENGLE, Elizabeth C, TISCHFIELD, Max A, PEEVA, Maya, YUYU SONG, MENEZES, Manoj P, CHAN, Wai-Man, ANDREWS, Caroline, CHEW, Sheena, JAMIESON, Robyn V

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A 20-Year Experience of Combined Liver/Kidney Transplantation for Primary Hyperoxaluria (PH1): The European PH1 Transplant Registry Experience 1984–2004 von Jamieson, Neville V.

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Keeping a Learning Community and Academic Integrity Intact after a Mid-Term Shift to Online Learning in Chemical Engineering Design During the COVID-19 Pandemic von Jamieson, Marnie V

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Interactions between laminin receptor and the cytoskeleton during translation and cell motility von Venticinque, Lisa, Jamieson, Kelly V, Meruelo, Daniel

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Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma von JAMIESON, Robyn V, PERVEEN, Rahat, BLACK, Graeme C. M, KERR, Bronwyn, CARETTE, Martin, YARDLEY, Jill, HEON, Elise, WIRTH, M. Gabriela, VAN HEYNINGEN, Veronica, DONNAI, Di, MUNIER, Francis

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Patient-Reported Health-Related Quality of Life in Individuals with Inherited Retinal Diseases von Schofield, Deborah, Kraindler, Joshua, Tan, Owen, Shrestha, Rupendra, Jelovic, Diana, West, Sarah, Ma, Alan, Grigg, John, Jamieson, Robyn V.

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Haemobilia von Green, M. H. A., Duell, R. M., Johnson, C. D., Jamieson, N. V.

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What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability von Ma, Alan, O'Shea, Rosie, Wedd, Laura, Wong, Claire, Jamieson, Robyn V, Rankin, Nicole

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New mutations in GJA8 expand the phenotype to include total sclerocornea von Ma, A.S., Grigg, J.R., Prokudin, I., Flaherty, M., Bennetts, B., Jamieson, R.V.

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Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells von Nash, Benjamin M., Loi, To Ha, Fernando, Milan, Sabri, Amin, Robinson, James, Cheng, Anson, Eamegdool, Steven S., Farnsworth, Elizabeth, Bennetts, Bruce, Grigg, John R., Chung, Seo-Kyung, Gonzalez-Cordero, Anai, Jamieson, Robyn V.

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Precision medicine in Australia: now is the time to get it right von O'Shea, Rosie, Ma, Alan S, Jamieson, Robyn V, Rankin, Nicole M

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Acetazolamide in Retinoschisis: A Prospective Study von Gurbaxani, Avinash, MBBS, FRCS(Ed)(Ophth), Wei, Michael, MBBS, MMed(OphthSc), Succar, Tony, MScMed(OphthSc), PhD, McCluskey, Peter J., MD, FRANZCO, Jamieson, Robyn V., PhD, FRACP, Grigg, John R., MD, FRANZCO

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Dkk1 and Wnt3 interact to control head morphogenesis in the mouse von Lewis, Samara L, Khoo, Poh-Lynn, De Young, R Andrea, Steiner, Kirsten, Wilcock, Chris, Mukhopadhyay, Mahua, Westphal, Heiner, Jamieson, Robyn V, Robb, Lorraine, Tam, Patrick P L

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