Congenital Fibrosis of the Extraocular Muscles Type 1, Distinctive Conjunctival Changes and Intrapapillary Disc Colobomata

per Flaherty, Maree P, Balachandran, Chandra, Jamieson, Robyn, Engle, Elizabeth C
Publicat 2009

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

per Stark, Zornitza, Storen, Rebecca, Bennetts, Bruce, Savarirayan, Ravi, Jamieson, Robyn V
Publicat 2011

Management of intraoperative tilting of the scleral‐fixated intraocular lens in classical aniridia

per Arvind, Hemamalini, Hunyor, Alex, McClellan, Kathy, Billson, Francis, Grigg, John, Jamieson, Robyn
Publicat 2007

Retinal dystrophies, genomic applications in diagnosis and prospects for therapy

per Nash, Benjamin M., Wright, Dale C., Grigg, John R., Bennetts, Bruce, Jamieson, Robyn V.
Publicat a Transl Pediatr (2015)

NMNAT1 variants cause cone and cone-rod dystrophy

per Nash, Benjamin M., Symes, Richard, Goel, Himanshu, Dinger, Marcel E., Bennetts, Bruce, Grigg, John R., Jamieson, Robyn V.
Publicat a Eur J Hum Genet (2017)

Identification of missense MAB21L1 variants in microphthalmia and aniridia

per Seese, Sarah E., Reis, Linda M., Deml, Brett, Griffith, Christopher, Reich, Adi, Jamieson, Robyn V., Semina, Elena V.
Publicat a Hum Mutat (2021)

Outcome measures in juvenile X-linked retinoschisis: A systematic review

per Grigg, John R., Hooper, Claire Y., Fraser, Clare L., Cornish, Elisa E., McCluskey, Peter J., Jamieson, Robyn V.
Publicat a Eye (Lond) (2020)

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1

per Prokudin, Ivan, Simons, Cas, Grigg, John R, Storen, Rebecca, Kumar, Vikrant, Phua, Zai Y, Smith, James, Flaherty, Maree, Davila, Sonia, Jamieson, Robyn V
Publicat 2014

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

per Sharma, Shiwani, Burdon, Kathryn P., Dave, Alpana, Jamieson, Robyn V., Yaron, Yuval, Billson, Frank, Van Maldergem, Lionel, Lorenz, Birgit, Gécz, Jozef, Craig, Jamie E.
Publicat 2008

Assessing Residual Cone Function in Retinitis Pigmentosa Patients

per Arsiwalla, Tasneem A., Cornish, Elisa E., Nguyen, Phuc Vuong, Korsakova, Maria, Ali, Haipha, Saakova, Nonna, Fraser, Clare L., Jamieson, Robyn V., Grigg, John R.
Publicat a Transl Vis Sci Technol (2020)

Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey

per Mack, Heather G, Chen, Fred K, Grigg, John, Jamieson, Robyn, De Roach, John, O’Hare, Fleur, Britten-Jones, Alexis Ceecee, McGuinness, Myra, Tindill, Nicole, Ayton, Lauren
Publicat a BMJ Open (2021)

Novel SOX2 partner-factor domain mutation in a four-generation family

per Mihelec, Marija, Abraham, Peter, Gibson, Kate, Krowka, Renata, Susman, Rachel, Storen, Rebecca, Chen, Yongjuan, Donald, Jenny, Tam, Patrick PL, Grigg, John R, Flaherty, Maree, Gole, Glen A, Jamieson, Robyn V
Publicat 2009

Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment

per Nash, Benjamin M., Watson, Christopher J. G., Hughes, Edward, Hou, Alec L., Loi, To Ha, Bennetts, Bruce, Jelovic, Diana, Polkinghorne, Philip J., Gorbatov, Mark, Grigg, John R., Vincent, Andrea L., Jamieson, Robyn V.
Publicat a Eur J Hum Genet (2021)

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

per 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.
Publicat a Hum Mutat (2016)

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

per Cederquist, Gustav Y., Luchniak, Anna, Tischfield, Max A., Peeva, Maya, Song, Yuyu, Menezes, Manoj P., Chan, Wai-Man, Andrews, Caroline, Chew, Sheena, Jamieson, Robyn V., Gomes, Lavier, Flaherty, Maree, Grant, Patricia Ellen, Gupta, Mohan L., Engle, Elizabeth C.
Publicat 2012

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

per Léger, Sandy, Balguerie, Xavier, Goldenberg, Alice, Drouin-Garraud, Valérie, Cabot, Annick, Amstutz-Montadert, Isabelle, Young, Paul, Joly, Pascal, Bodereau, Virginie, Holder-Espinasse, Muriel, Jamieson, Robyn V, Krause, Amanda, Chen, Hongsheng, Baumann, Clarisse, Nunes, Luis, Dollfus, Hélène, Goossens, Michel, Pingault, Véronique
Publicat 2012

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

per Kirk, Edwin P., Ong, Royston, Boggs, Kirsten, Hardy, Tristan, Righetti, Sarah, Kamien, Ben, Roscioli, Tony, Amor, David J., Bakshi, Madhura, Chung, Clara W. T., Colley, Alison, Jamieson, Robyn V., Liebelt, Jan, Ma, Alan, Pachter, Nicholas, Rajagopalan, Sulekha, Ravine, Anja, Wilson, Meredith, Caruana, Jade, Casella, Rachael, Davis, Mark, Edwards, Samantha, Archibald, Alison, McGaughran, Julie, Newson, Ainsley J., Laing, Nigel G., Delatycki, Martin B.
Publicat a Eur J Hum Genet (2020)

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

per Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.
Publicat a Genet Med (2020)

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

per Utami, Kagistia H., Hillmer, Axel M., Aksoy, Irene, Chew, Elaine G. Y., Teo, Audrey S. M., Zhang, Zhenshui, Lee, Charlie W. H., Chen, Pauline J., Seng, Chan Chee, Ariyaratne, Pramila N., Rouam, Sigrid L., Soo, Lim Seong, Yousoof, Saira, Prokudin, Ivan, Peters, Gregory, Collins, Felicity, Wilson, Meredith, Kakakios, Alyson, Haddad, Georges, Menuet, Arnaud, Perche, Olivier, Tay, Stacey Kiat Hong, Sung, Ken W. K., Ruan, Xiaoan, Ruan, Yijun, Liu, Edison T., Briault, Sylvain, Jamieson, Robyn V., Davila, Sonia, Cacheux, Valere
Publicat 2014

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

per Williams, Lloyd B., Javed, Asif, Sabri, Amin, Morgan, Denise J., Huff, Chad D., Grigg, John R., Heng, Xiu Ting, Khng, Alexis J., Hollink, Iris H. I. M., Morrison, Margaux A., Owen, Leah A., Anderson, Katherine, Kinard, Krista, Greenlees, Rebecca, Novacic, Danica, Nida Sen, H., Zein, Wadih M., Rodgers, George M., Vitale, Albert T., Haider, Neena B., Hillmer, Axel M., Ng, Pauline C., Shankaracharya, Cheng, Anson, Zheng, Linda, Gillies, Mark C., van Slegtenhorst, Marjon, van Hagen, P. Martin, Missotten, Tom O. A. R., Farley, Gary L., Polo, Michael, Malatack, James, Curtin, Julie, Martin, Frank, Arbuckle, Susan, Alexander, Stephen I., Chircop, Megan, Davila, Sonia, Digre, Kathleen B., Jamieson, Robyn V., DeAngelis, Margaret M.
Publicat a Genet Med (2019)