Paediatric Horner Syndrome: How much further to investigate?

Por Bhate, Manjushree, Flaherty, Maree, Rowe, Neil, Howman-Giles, Robert
Publicado no Indian J Ophthalmol (2020)

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

Por Flaherty, Maree P, Balachandran, Chandra, Jamieson, Robyn, Engle, Elizabeth C
Publicado em 2009

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

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

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

Por 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
Publicado em 2009

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

Por 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.
Publicado no Hum Mutat (2016)

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

Por 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.
Publicado em 2012

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Por 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.
Publicado no 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...

Por 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
Publicado no Neuro Oncol (2020)

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

Por 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.
Publicado em 2010