Paediatric Horner Syndrome: How much further to investigate?

著者: Bhate, Manjushree, Flaherty, Maree, Rowe, Neil, Howman-Giles, Robert
出版年 Indian J Ophthalmol (2020)

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

著者: Flaherty, Maree P, Balachandran, Chandra, Jamieson, Robyn, Engle, Elizabeth C
出版事項 2009

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

著者: Prokudin, Ivan, Simons, Cas, Grigg, John R, Storen, Rebecca, Kumar, Vikrant, Phua, Zai Y, Smith, James, Flaherty, Maree, Davila, Sonia, Jamieson, Robyn V
出版事項 2014

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

著者: 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
出版事項 2009

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

著者: 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.
出版年 Hum Mutat (2016)

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

著者: 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.
出版事項 2012

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

著者: 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.
出版年 Genet Med (2020)

NFB-09. ENROLLMENT AND CLINICAL CHARACTERISTICS OF NEWLY DIAGNOSED, NEUROFIBROMATOSIS TYPE 1 ASSOCIATED OPTIC PATHWAY GLIOMA (NF1-OPG): PRELIMINARY RESULTS FROM AN INTERNATIONAL MU...

著者: Fisher, Michael J, Liu, Grant T, Ferner, Rosalie E, Gutmann, David H, Listernick, Robert, de Blank, Peter, Zeid, Janice, Ullrich, Nicole J, Heidary, Gena, Bornhorst, Miriam, Stasheff, Steven F, Rosser, Tena, Borchert, Mark, Ardern-Holmes, Simone, Flaherty, Maree, Hummel, Trent R, Motley, W Walker, Bielamowicz, Kevin, Phillips, Paul H, Bouffet, Eric, Reginald, Arun, Wolf, David S, Peragallo, Jason, Van Mater, David, El-Dairi, Mays, Sato, Aimee, Tarczy-Hornoch, Kristina, Klesse, Laura, Hogan, Nick, Foreman, Nick, McCourt, Emily, Allen, Jeffrey, Ranka, Milan, Campen, Cynthia, Beres, Shannon, Moertel, Christopher, Areaux, Ray, Stearns, Duncan, Orge, Faruk, Crawford, John, O’Halloran, Henry, Brodsky, Michael, Esbenshade, Adam J, Donahue, Sean, Cutter, Gary, Avery, Robert A
出版年 Neuro Oncol (2020)

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

著者: Tischfield, Max A., Baris, Hagit N., Wu, Chen, Rudolph, Guenther, Van Maldergem, Lionel, He, Wei, Chan, Wai-Man, Andrews, Caroline, Demer, Joseph L., Robertson, Richard L., Mackey, David A., Ruddle, Jonathan B., Bird, Thomas D., Gottlob, Irene, Pieh, Christina, Traboulsi, Elias I., Pomeroy, Scott L., Hunter, David G., Soul, Janet S., Newlin, Anna, Sabol, Louise J., Doherty, Edward J., de Uzcátegui, Clara E., de Uzcátegui, Nicolas, Collins, Mary Louise Z., Sener, Emin C., Wabbels, Bettina, Hellebrand, Heide, Meitinger, Thomas, de Berardinis, Teresa, Magli, Adriano, Schiavi, Costantino, Pastore-Trossello, Marco, Koc, Feray, Wong, Agnes M., Levin, Alex V., Geraghty, Michael T., Descartes, Maria, Flaherty, Maree, Jamieson, Robyn V., Møller, H. U., Meuthen, Ingo, Callen, David F., Kerwin, Janet, Lindsay, Susan, Meindl, Alfons, Gupta, Mohan L., Pellman, David, Engle, Elizabeth C.
出版事項 2010