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Stephen J Tuft

Showing results (81-90 of 96) with videos related to

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Investigative Ophthalmology & Visual Science|July 8, 2025
Decoding the Cornea-Glaucoma Association: Evidence From Mendelian RandomizationVictor A de Vries, Anita Szabo, Joëlle E Vergroesen, et al.
Ophthalmology|May 25, 2026
Genetic Prediction of Keratoplasty in Fuchs Endothelial Corneal DystrophySiyin Liu, Anita Szabo, Christina Zarouchlioti, et al.
Communications Biology|June 13, 2020
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thicknessHélène Choquet, Ronald B Melles, Jie Yin, et al.
American Journal of Human Genetics|March 3, 2018
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4Petra Liskova, Lubica Dudakova, Cerys J Evans, et al.
Experimental Eye Research|March 10, 2019
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosisLubica Dudakova, Cerys J Evans, Nikolas Pontikos, et al.
JAMA Ophthalmology|June 28, 2019
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association StudyAnthony P Khawaja, Karla E Rojas Lopez, Alison J Hardcastle, et al.
American Journal of Human Genetics|March 13, 2018
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated ToxicityChristina Zarouchlioti, Beatriz Sanchez-Pintado, Nathaniel J Hafford Tear, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Plos Genetics|May 7, 2024
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseNihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, et al.
American Journal of Ophthalmology|November 16, 2023
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1Karynne Patterson, Jessica X Chong, Doug D Chung, et al.
Pageof 10

Showing results (81-90 of 96) with videos related to

Sort By:
Pageof 10
Investigative Ophthalmology & Visual Science|July 8, 2025
Decoding the Cornea-Glaucoma Association: Evidence From Mendelian RandomizationVictor A de Vries, Anita Szabo, Joëlle E Vergroesen, et al.
Ophthalmology|May 25, 2026
Genetic Prediction of Keratoplasty in Fuchs Endothelial Corneal DystrophySiyin Liu, Anita Szabo, Christina Zarouchlioti, et al.
Communications Biology|June 13, 2020
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thicknessHélène Choquet, Ronald B Melles, Jie Yin, et al.
American Journal of Human Genetics|March 3, 2018
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4Petra Liskova, Lubica Dudakova, Cerys J Evans, et al.
Experimental Eye Research|March 10, 2019
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosisLubica Dudakova, Cerys J Evans, Nikolas Pontikos, et al.
JAMA Ophthalmology|June 28, 2019
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association StudyAnthony P Khawaja, Karla E Rojas Lopez, Alison J Hardcastle, et al.
American Journal of Human Genetics|March 13, 2018
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated ToxicityChristina Zarouchlioti, Beatriz Sanchez-Pintado, Nathaniel J Hafford Tear, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Plos Genetics|May 7, 2024
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseNihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, et al.
American Journal of Ophthalmology|November 16, 2023
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1Karynne Patterson, Jessica X Chong, Doug D Chung, et al.
Pageof 10