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JCI Insight
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October 20, 2022
A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease
Masha Kolesnikova, Jin Kyun Oh, Jiali Wang, et al.
Human Mutation
|
July 29, 2014
Genetic and clinical analysis of ABCA4-associated disease in African American patients
Jana Zernant, Frederick T Collison, Winston Lee, et al.
American Journal of Ophthalmology
|
May 24, 2020
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy
Jin Kyun Oh, Joseph Ryu, Jose Ronaldo Lima de Carvalho, et al.
Investigative Ophthalmology & Visual Science
|
November 10, 2015
Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers
Tobias Duncker, Gregory E Stein, Winston Lee, et al.
American Journal of Human Genetics
|
March 13, 2018
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
Silvia Albert, Alejandro Garanto, Riccardo Sangermano, et al.
Ebiomedicine
|
February 22, 2024
Case report: Zika surveillance complemented with wastewater and mosquito testing
Judith Chui Ching Wong, Martin Tay, Hapuarachchige Chanditha Hapuarachchi, et al.
Plos Genetics
|
March 30, 2022
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
Jana Zernant, Winston Lee, Jun Wang, et al.
Human Molecular Genetics
|
June 12, 2014
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11
Yajing Angela Xie, Winston Lee, Carolyn Cai, et al.
Elife
|
September 16, 2020
<i>IER5</i>, a DNA damage response gene, is required for Notch-mediated induction of squamous cell differentiation
Li Pan, Madeleine E Lemieux, Tom Thomas, et al.
Ophthalmic Genetics
|
December 17, 2021
A homozygous in-frame duplication within the LRRCT consensus sequence of <i>CFAP410</i> causes cone-rod dystrophy, macular staphyloma and short stature
Ning Chiu, Winston Lee, Pei-Kang Liu, et al.
Page
of 13
Search research articles
Search
Showing results (101-110 of 124) with videos related to
Sort By:
Page
of 13
JCI Insight
|
October 20, 2022
A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease
Masha Kolesnikova, Jin Kyun Oh, Jiali Wang, et al.
Human Mutation
|
July 29, 2014
Genetic and clinical analysis of ABCA4-associated disease in African American patients
Jana Zernant, Frederick T Collison, Winston Lee, et al.
American Journal of Ophthalmology
|
May 24, 2020
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy
Jin Kyun Oh, Joseph Ryu, Jose Ronaldo Lima de Carvalho, et al.
Investigative Ophthalmology & Visual Science
|
November 10, 2015
Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers
Tobias Duncker, Gregory E Stein, Winston Lee, et al.
American Journal of Human Genetics
|
March 13, 2018
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
Silvia Albert, Alejandro Garanto, Riccardo Sangermano, et al.
Ebiomedicine
|
February 22, 2024
Case report: Zika surveillance complemented with wastewater and mosquito testing
Judith Chui Ching Wong, Martin Tay, Hapuarachchige Chanditha Hapuarachchi, et al.
Plos Genetics
|
March 30, 2022
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
Jana Zernant, Winston Lee, Jun Wang, et al.
Human Molecular Genetics
|
June 12, 2014
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11
Yajing Angela Xie, Winston Lee, Carolyn Cai, et al.
Elife
|
September 16, 2020
<i>IER5</i>, a DNA damage response gene, is required for Notch-mediated induction of squamous cell differentiation
Li Pan, Madeleine E Lemieux, Tom Thomas, et al.
Ophthalmic Genetics
|
December 17, 2021
A homozygous in-frame duplication within the LRRCT consensus sequence of <i>CFAP410</i> causes cone-rod dystrophy, macular staphyloma and short stature
Ning Chiu, Winston Lee, Pei-Kang Liu, et al.
Page
of 13