Ngā hua rapu - Jamieson, Robyn V

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring mā Stark, Zornitza, Storen, Rebecca, Bennetts, Bruce, Savarirayan, Ravi, Jamieson, Robyn V

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The electroretinogram in the genomics era: outer retinal disorders mā Cornish, Elisa E., Vaze, Anagha, Jamieson, Robyn V., Grigg, John R.

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NMNAT1 variants cause cone and cone-rod dystrophy mā Nash, Benjamin M., Symes, Richard, Goel, Himanshu, Dinger, Marcel E., Bennetts, Bruce, Grigg, John R., Jamieson, Robyn V.

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Identification of missense MAB21L1 variants in microphthalmia and aniridia mā Seese, Sarah E., Reis, Linda M., Deml, Brett, Griffith, Christopher, Reich, Adi, Jamieson, Robyn V., Semina, Elena V.

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Outcome measures in juvenile X-linked retinoschisis: A systematic review mā Grigg, John R., Hooper, Claire Y., Fraser, Clare L., Cornish, Elisa E., McCluskey, Peter J., Jamieson, Robyn V.

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Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1 mā Prokudin, Ivan, Simons, Cas, Grigg, John R, Storen, Rebecca, Kumar, Vikrant, Phua, Zai Y, Smith, James, Flaherty, Maree, Davila, Sonia, Jamieson, Robyn V

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Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform mā Sharma, Shiwani, Burdon, Kathryn P., Dave, Alpana, Jamieson, Robyn V., Yaron, Yuval, Billson, Frank, Van Maldergem, Lionel, Lorenz, Birgit, Gécz, Jozef, Craig, Jamie E.

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Assessing Residual Cone Function in Retinitis Pigmentosa Patients mā Arsiwalla, Tasneem A., Cornish, Elisa E., Nguyen, Phuc Vuong, Korsakova, Maria, Ali, Haipha, Saakova, Nonna, Fraser, Clare L., Jamieson, Robyn V., Grigg, John R.

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Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability mā Chahine Karam, Fidelle, Loi, To Ha, Ma, Alan, Nash, Benjamin M., Grigg, John R., Parekh, Darshan, Riley, Lisa G., Farnsworth, Elizabeth, Bennetts, Bruce, Gonzalez-Cordero, Anai, Jamieson, Robyn V.

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

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Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells mā 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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Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment mā 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.

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Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing mā 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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An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation mā 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.

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

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Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies mā 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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Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”) mā 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.

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Revealing hidden genetic diagnoses in the ocular anterior segment disorders mā 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.

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

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

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