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Medrxiv : the Preprint Server for Health Sciences|August 6, 2025
The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodelingAtlas Khan, Poppy A Gould, Yiming Luo, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 2, 2025
Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trialTomas S Aleman, Katherine E Uyhazi, Alejandro J Roman, et al.
Investigative Ophthalmology & Visual Science|November 15, 2012
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseKari Branham, Mohammad Othman, Matthew Brumm, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 21, 2018
Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital BlindnessJi Yun Song, Puya Aravand, Sergei Nikonov, et al.
Investigative Ophthalmology & Visual Science|December 18, 2024
Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric PatientsTomas S Aleman, Alejandro J Roman, Katherine E Uyhazi, et al.
European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.
The New England Journal of Medicine|April 29, 2008
Safety and efficacy of gene transfer for Leber's congenital amaurosisAlbert M Maguire, Francesca Simonelli, Eric A Pierce, et al.
Lancet (London, England)|October 27, 2009
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trialAlbert M Maguire, Katherine A High, Alberto Auricchio, et al.
Science (New York, N.Y.)|February 6, 2025
Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variantsHongbo Liu, Amin Abedini, Eunji Ha, et al.
Lancet (London, England)|July 18, 2017
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trialStephen Russell, Jean Bennett, Jennifer A Wellman, et al.
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