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Frontiers in Cellular Neuroscience|September 25, 2020
The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye DisordersJonathan Eintracht, Maria Toms, Mariya Moosajee
Stem Cell Reports|May 31, 2024
Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmiaJonathan Eintracht, Nicholas Owen, Philippa Harding, et al.
Ebiomedicine|August 8, 2021
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblastsJonathan Eintracht, Elizabeth Forsythe, Helen May-Simera, et al.
F1000Research|July 11, 2022
Efficient embryoid-based method to improve generation of optic vesicles from human induced pluripotent stem cellsJonathan Eintracht, Philippa Harding, Dulce Lima Cunha, et al.
Molecular Therapy. Nucleic Acids|July 24, 2023
Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugsDulce Lima Cunha, Hajrah Sarkar, Jonathan Eintracht, et al.
Stem Cell Research|December 29, 2020
Generation of two human control iPS cell lines (UCLi016-A and UCLi017-A) from healthy donors with no known ocular conditionsCécile Méjécase, Philippa Harding, Hajrah Sarkar, et al.
Stem Cell Research|February 1, 2021
Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6Philippa Harding, Dulce Lima Cunha, Cécile Méjécase, et al.
Stem Cell Research|July 3, 2021
Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variantsHajrah Sarkar, Cécile Méjécase, Philippa Harding, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|April 25, 2025
Variant-specific disruption to notch signalling in PAX6 microphthalmia and aniridia patient-derived hiPSC optic cup-like organoidsPhilippa Harding, Nicholas Owen, Jonathan Eintracht, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2022
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysisNicholas Owen, Maria Toms, Rodrigo M Young, et al.
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