Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease

por Allikmets, Rando, Zernant, Jana, Lee, Winston
Publicado 2018

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

por Cremers, Frans P.M., Lee, Winston, Collin, Rob W.J., Allikmets, Rando
Publicado 2020

Familial discordance in Stargardt disease

por Burke, Tomas R., Tsang, Stephen H., Zernant, Jana, Smith, R. Theodore, Allikmets, Rando
Publicado 2012

Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium

por Sparrow, Janet R., Parmann, Rait, Tsang, Stephen H., Allikmets, Rando, Chang, Stanley, Jauregui, Ruben
Publicado 2021

A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes

por Lee, Winston, Zernant, Jana, Su, Pei-Yin, Nagasaki, Takayuki, Tsang, Stephen H., Allikmets, Rando
Publicado 2022

Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease

por Parmann, Rait, Tsang, Stephen H., Zernant, Jana, Allikmets, Rando, Greenstein, Vivienne C., Sparrow, Janet R.
Publicado 2022

Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation

por Lee, Winston, Schuerch, Kaspar, Xie, Yajing, Zernant, Jana, Tsang, Stephen H., Sparrow, Janet R., Allikmets, Rando
Publicado 2016

Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy

por Jauregui, Ruben, Cho, Ahra, Lee, Winston, Zernant, Jana, Allikmets, Rando, Sparrow, Janet R., Tsang, Stephen H.
Publicado 2020

Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture

por Su, Pei-Yin, Lee, Winston, Zernant, Jana, Tsang, Stephen H., Nagasaki, Takayuki, Corneo, Barbara, Allikmets, Rando
Publicado 2022

Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1

por Ma, Chu Jian, Lee, Winston, Stong, Nicholas, Zernant, Jana, Chang, Stanley, Goldstein, David, Nagasaki, Takayuki, Allikmets, Rando
Publicado 2019

Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence

por Jauregui, Ruben, Nuzbrokh, Yan, Su, Pei-Yin, Zernant, Jana, Allikmets, Rando, Tsang, Stephen H., Sparrow, Janet R.
Publicado 2021

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy

por Collison, Frederick T., Fishman, Gerald A., Nagasaki, Takayuki, Zernant, Jana, McAnany, J. Jason, Park, Jason C., Allikmets, Rando
Publicado 2019

Multi-platform imaging in ABCA4-Associated Disease

por Chen, Lijuan, Lee, Winston, de Carvalho, Jose Ronaldo Lima, Chang, Stanley, Tsang, Stephen H., Allikmets, Rando, Sparrow, Janet R.
Publicado 2019

Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa

por Schuerch, Kaspar, Woods, Russell L., Lee, Winston, Duncker, Tobias, Delori, François C., Allikmets, Rando, Tsang, Stephen H., Sparrow, Janet R.
Publicado 2017

Associations Between β-Peripapillary Atrophy and Reticular Pseudodrusen in Early Age-Related Macular Degeneration

por Garg, Aakriti, Blumberg, Dana M., Al-Aswad, Lama A., Oll, Maris, Yzer, Suzanne, Forbes, Max, Allikmets, Rando L., Bearelly, Srilaxmi
Publicado 2017

Insights Into PROM1-Macular Disease Using Multimodal Imaging

por Paavo, Maarjaliis, Lee, Winston, Parmann, Rait, Lima de Carvalho, Jose Ronaldo, Zernant, Jana, Tsang, Stephen H., Allikmets, Rando, Sparrow, Janet R.
Publicado 2023

Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence

por Greenstein, Vivienne C., Castillejos, David S., Tsang, Stephen H., Lee, Winston, Sparrow, Janet R., Allikmets, Rando, Birch, David G., Hood, Donald C.
Publicado 2023

Functional Analysis of Retinal Flecks in Stargardt Disease

por Verdina, Tommaso, Tsang, Stephen H., Greenstein, Vivienne C., Zernant, Jana, Sodi, Andrea, Lima, Luiz H., Chang, Stanley, Allikmets, Rando, Menchini, Ugo
Publicado 2012

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy

por Collison, Frederick T., Xie, Yajing (Angela), Gambin, Tomasz, Jhangiani, Shalini, Muzny, Donna, Gibbs, Richard, Lupski, James R., Fishman, Gerald A., Allikmets, Rando
Publicado 2015

Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence

por Paavo, Maarjaliis, Zhao, Jin, Kim, Hye Jin, Lee, Winston, Zernant, Jana, Cai, Carolyn, Allikmets, Rando, Tsang, Stephen H., Sparrow, Janet R.
Publicado 2018