The challenges of amblyopia treatment

Por Maconachie, Gail D.E., Gottlob, Irene
Publicado no Biomed J (2015)

Does the EyeChart App for iPhones Give Comparable Measurements to Traditional Visual Acuity Charts?

Por Ansell, Katie, Maconachie, Gail, Bjerre, Anne
Publicado no Br Ir Orthopt J (2020)

Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

Por Thomas, Mervyn G, Maconachie, Gail DE, Sheth, Viral, McLean, Rebecca J, Gottlob, Irene
Publicado no Eur J Hum Genet (2017)

Optic Nerve Head Development in Healthy Infants and Children Using Handheld Spectral-Domain Optical Coherence Tomography

Por Patel, Aarti, Purohit, Ravi, Lee, Helena, Sheth, Viral, Maconachie, Gail, Papageorgiou, Eleni, McLean, Rebecca J., Gottlob, Irene, Proudlock, Frank A.
Publicado no Ophthalmology (2016)

Abnormal retinal development associated with FRMD7 mutations

Por Thomas, Mervyn G., Crosier, Moira, Lindsay, Susan, Kumar, Anil, Araki, Masasuke, Leroy, Bart P., McLean, Rebecca J., Sheth, Viral, Maconachie, Gail, Thomas, Shery, Moore, Anthony T., Gottlob, Irene
Publicado em 2014

Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant

Por Thomas, Mervyn G, Maconachie, Gail D E, Constantinescu, Cris S, Chan, Wai-Man, Barry, Brenda, Hisaund, Michael, Sheth, Viral, Kuht, Helen J, Dineen, Rob A, Harieaswar, Sreemathi, Engle, Elizabeth C, Gottlob, Irene
Publicado no Br J Ophthalmol (2020)

Discordant phenotypes in twins with infantile nystagmus

Por Aamir, Abdullah, Kuht, Helen J., McLean, Rebecca J., Maconachie, Gail D. E., Sheth, Viral, Dawar, Basu, Purohit, Ravi, Sylvius, Nicolas, Hisaund, Michael, Zubcov-Iwantscheff, Alina, Proudlock, Frank A., Gottlob, Irene, Thomas, Mervyn G.
Publicado no Sci Rep (2021)

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

Por Thomas, Mervyn G., Maconachie, Gail D. E., Kuht, Helen J., Chan, Wai-Man, Sheth, Viral, Hisaund, Michael, McLean, Rebecca J., Barry, Brenda, Al-Diri, Bashir, Proudlock, Frank A., Tu, Zhanhan, Engle, Elizabeth C., Gottlob, Irene
Publicado no Int J Mol Sci (2021)

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

Por Park, Jong G., Tischfield, Max A., Nugent, Alicia A., Cheng, Long, Di Gioia, Silvio Alessandro, Chan, Wai-Man, Maconachie, Gail, Bosley, Thomas M., Summers, C. Gail, Hunter, David G., Robson, Caroline D., Gottlob, Irene, Engle, Elizabeth C.
Publicado no Am J Hum Genet (2016)

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

Por Mayer, Anja K., Mahajnah, Muhammad, Thomas, Mervyn G., Cohen, Yuval, Habib, Adib, Schulze, Martin, Maconachie, Gail, AlMoallem, Basamat, De Baere, Elfride, Lorenz, Birgit, Traboulsi, Elias I., Kohl, Susanne, Azem, Abdussalam, Bauer, Peter, Gottlob, Irene, Sharkia, Rajech, Wissinger, Bernd
Publicado no Brain (2019)

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization

Por Kuht, Helen J, Han, Jinu, Maconachie, Gail D E, Park, Sung Eun, Lee, Seung-Tae, McLean, Rebecca, Sheth, Viral, Hisaund, Michael, Dawar, Basu, Sylvius, Nicolas, Mahmood, Usman, Proudlock, Frank A, Gottlob, Irene, Lim, Hyun Taek, Thomas, Mervyn G
Publicado no Hum Mol Genet (2020)

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

Por Shaaban, Sherin, MacKinnon, Sarah, Andrews, Caroline, Staffieri, Sandra E., Maconachie, Gail D. E., Chan, Wai-Man, Whitman, Mary C., Morton, Sarah U., Yazar, Seyhan, MacGregor, Stuart, Elder, James E., Traboulsi, Elias I., Gottlob, Irene, Hewitt, Alex W., Hunter, David G., Mackey, David A., Engle, Elizabeth C.
Publicado no Invest Ophthalmol Vis Sci (2018)

Recurrent Rare Copy Number Variants Increase Risk for Esotropia

Por Whitman, Mary C., Di Gioia, Silvio Alessandro, Chan, Wai-Man, Gelber, Alon, Pratt, Brandon M., Bell, Jessica L., Collins, Thomas E., Knowles, James A., Armoskus, Christopher, Pato, Michele, Pato, Carlos, Shaaban, Sherin, Staffieri, Sandra, MacKinnon, Sarah, Maconachie, Gail D E., Elder, James E., Traboulsi, Elias I., Gottlob, Irene, Mackey, David A., Hunter, David G., Engle, Elizabeth C.
Publicado no Invest Ophthalmol Vis Sci (2020)