Jacqueline W. Van Der Spuy-Van Der Spoel
London, ENG EC1V9EL, United Kingdom
Last Updated: 09/26/2026
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Found 29 publications
Brain injury in twin anemia-polycythemia sequence: prevalence, severity and long-term neurodevelopmental outcome.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: September 22, 2025
Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy.
Journal: Molecular therapy. Nucleic acids
Published: August 15, 2025
Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids.
Journal: Molecular therapy. Nucleic acids
Published: April 04, 2025
Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study.
Journal: Lancet (London, England)
Published: October 03, 2024
A Long-Term Retrospective Natural History Study of EFEMP1-Associated Autosomal Dominant Drusen.
Journal: Investigative ophthalmology & visual science
Published: June 20, 2024
Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4.
Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4.
Journal: Molecular therapy. Nucleic acids
Published: September 05, 2023
Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.
Journal: Cells
Published: April 06, 2023
Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease.
Journal: International journal of molecular sciences
Published: February 01, 2023
HSP70-HSP90 Chaperone Networking in Protein-Misfolding Disease.
Journal: Sub-cellular biochemistry
Published: December 15, 2022
CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids.
Journal: Molecular therapy. Methods & clinical development
Published: October 11, 2022
Induced Pluripotent Stem Cells and Genome-Editing Tools in Determining Gene Function and Therapy for Inherited Retinal Disorders.
Journal: International journal of molecular sciences
Published: October 04, 2022
Last Updated: 09/26/2026