| # | Title | Journal | Year | Citations |
|---|
| 1 | A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB | EMBO Journal | 2012 | 1,507 |
| 2 | Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition | Nature Cell Biology | 2010 | 420 |
| 3 | Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial | Lancet, The | 2016 | 377 |
| 4 | Novel Adeno-Associated Virus Serotypes Efficiently Transduce Murine Photoreceptors | Journal of Virology | 2007 | 210 |
| 5 | Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis | Developmental Cell | 2014 | 203 |
| 6 | Vector platforms for gene therapy of inherited retinopathies | Progress in Retinal and Eye Research | 2014 | 146 |
| 7 | Oral–facial–digital syndromes: Review and diagnostic guidelines | American Journal of Medical Genetics, Part A | 2007 | 134 |
| 8 | Characterization of a Recombinant Adeno-Associated Virus Type 2 Reference Standard Material | Human Gene Therapy | 2010 | 125 |
| 9 | Novel adeno-associated viral vectors for retinal gene therapy | Gene Therapy | 2012 | 109 |
| 10 | Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina | Science Translational Medicine | 2019 | 109 |
| 11 | SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity | Human Molecular Genetics | 2015 | 101 |
| 12 | Triple Vectors Expand AAV Transfer Capacity in the Retina | Molecular Therapy | 2018 | 94 |
| 13 | Seeing the Light after 25 Years of Retinal Gene Therapy | Trends in Molecular Medicine | 2018 | 93 |
| 14 | Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency | Proceedings of the National Academy of Sciences of the United States of America | 2007 | 88 |
| 15 | Functional Characterization of the OFD1 Protein Reveals a Nuclear Localization and Physical Interaction with Subunits of a Chromatin Remodeling Complex | Molecular Biology of the Cell | 2007 | 75 |
| 16 | X-inactivation and human disease: X-linked dominant male-lethal disorders | Current Opinion in Genetics and Development | 2006 | 74 |
| 17 | Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease | Human Molecular Genetics | 2015 | 73 |
| 18 | SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies | Biochemical Journal | 2007 | 69 |
| 19 | Update on oral-facial-digital syndromes (OFDS) | Cilia | 2016 | 68 |
| 20 | The Microphthalmia Transcription Factor (Mitf) Controls Expression of the Ocular Albinism Type 1 Gene: Link between Melanin Synthesis and Melanosome Biogenesis | Molecular and Cellular Biology | 2004 | 63 |
| 21 | MicroRNA-Restricted Transgene Expression in the Retina | PLoS ONE | 2011 | 55 |
| 22 | Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome | PLoS ONE | 2016 | 54 |
| 23 | Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene | American Journal of Human Genetics | 2010 | 50 |
| 24 | Can Adeno-Associated Viral Vectors Deliver Effectively Large Genes? | Human Gene Therapy | 2020 | 49 |
| 25 | Adeno-Associated Viral Vectors as a Tool for Large Gene Delivery to the Retina | Genes | 2019 | 48 |
| 26 | Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway | Autophagy | 2015 | 47 |
| 27 | Gene Therapy of Inherited Retinopathies: A Long and Successful Road from Viral Vectors to Patients | Human Gene Therapy | 2012 | 43 |
| 28 | Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides | Human Mutation | 2006 | 41 |
| 29 | Has retinal gene therapy come of age? From bench to bedside and back to bench | Human Molecular Genetics | 2019 | 41 |
| 30 | Gene Therapy of Inherited Retinal Degenerations: Prospects and Challenges | Human Gene Therapy | 2015 | 39 |
| 31 | Multiple sulfatase deficiency is due to hypomorphic mutations of theSUMF1 gene | Human Mutation | 2007 | 38 |
| 32 | CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A | Retina | 2017 | 36 |
| 33 | Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI | Molecular Therapy - Methods and Clinical Development | 2017 | 36 |
| 34 | Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases | American Journal of Medical Genetics, Part A | 2005 | 32 |
| 35 | TFEB regulates murine liver cell fate during development and regeneration | Nature Communications | 2020 | 32 |
| 36 | Dopamine, Alpha-Synuclein, and Mitochondrial Dysfunctions in Parkinsonian Eyes | Frontiers in Neuroscience | 2020 | 31 |
| 37 | Myosin7a Deficiency Results in Reduced Retinal Activity Which Is Improved by Gene Therapy | PLoS ONE | 2013 | 29 |
| 38 | Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development | PLoS ONE | 2012 | 28 |
| 39 | Gene replacement therapy provides benefit in an adult mouse model of Leigh syndrome | Brain | 2020 | 27 |
| 40 | The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling | Human Molecular Genetics | 2019 | 25 |
| 41 | Different Serum Enzyme Levels Are Required to Rescue the Various Systemic Features of the Mucopolysaccharidoses | Human Gene Therapy | 2010 | 24 |
| 42 | HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models | American Journal of Physiology - Renal Physiology | 2020 | 24 |
| 43 | Worsening of Cardiomyopathy Using Deflazacort in an Animal Model Rescued by Gene Therapy | PLoS ONE | 2011 | 19 |
| 44 | The HOPS complex subunit VPS39 controls ciliogenesis through autophagy | Human Molecular Genetics | 2020 | 16 |
| 45 | Therapeutic homology-independent targeted integration in retina and liver | Nature Communications | 2022 | 14 |
| 46 | Inclusion of a degron reduces levels of undesired inteins after AAV-mediated protein trans-splicing in the retina | Molecular Therapy - Methods and Clinical Development | 2021 | 12 |
| 47 | Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family | American Journal of Medical Genetics, Part A | 2007 | 11 |
| 48 | Sulfatases are determinants of alveolar formation | Matrix Biology | 2012 | 11 |
| 49 | High-Throughput Screening Identifies Kinase Inhibitors That Increase Dual Adeno-Associated Viral Vector TransductionIn Vitroand in Mouse Retina | Human Gene Therapy | 2018 | 11 |
| 50 | Fighting Blindness with Adeno-Associated Virus Serotype 8 | Human Gene Therapy | 2011 | 9 |
