The challenges of amblyopia treatment

由 Maconachie, Gail D.E., Gottlob, Irene
發表在 Biomed J (2015)

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

由 Ansell, Katie, Maconachie, Gail, Bjerre, Anne
發表在 Br Ir Orthopt J (2020)

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

由 Thomas, Mervyn G, Maconachie, Gail DE, Sheth, Viral, McLean, Rebecca J, Gottlob, Irene
發表在 Eur J Hum Genet (2017)

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

由 Patel, Aarti, Purohit, Ravi, Lee, Helena, Sheth, Viral, Maconachie, Gail, Papageorgiou, Eleni, McLean, Rebecca J., Gottlob, Irene, Proudlock, Frank A.
發表在 Ophthalmology (2016)

Abnormal retinal development associated with FRMD7 mutations

由 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
出版 2014

Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant

由 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
發表在 Br J Ophthalmol (2020)

Discordant phenotypes in twins with infantile nystagmus

由 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.
發表在 Sci Rep (2021)

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

由 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
發表在 Int J Mol Sci (2021)

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

由 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.
發表在 Am J Hum Genet (2016)

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

由 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
發表在 Brain (2019)

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

由 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
發表在 Hum Mol Genet (2020)

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

由 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.
發表在 Invest Ophthalmol Vis Sci (2018)

Recurrent Rare Copy Number Variants Increase Risk for Esotropia

由 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.
發表在 Invest Ophthalmol Vis Sci (2020)