TESTA, Francesco
TESTA, Francesco
Dipartimento Multidisciplinare di Specialità Medico-Chirurgiche e Odontoiatriche
A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss
2025 Scarpato, Margherita; Testa, Francesco; Nesti, Anna; Zeuli, Roberta; Boccia, Rosa; Auletta, Gennaro; Banfi, Sandro; Simonelli, Francesca; Karali, Marianthi
Analysis of choriocapillaris vascular density in patients with retinitis pigmentosa caused by RPGR gene mutations
2025 Gesualdo, Carlo; Rossi, Settimio; Iodice, Clemente Maria; Melillo, Paolo; Marano, Ernesto; Giudice, Antonio Del; Di Martino, Mauro; Testa, Francesco; Simonelli, Francesca
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort
2025 Testa, Francesco; Karali, Marianthi; Boccia, Rosa; Pisani, Danila; Damiano, Luciana; Nicolò, Antonio; Madonna, Emanuele; De Rosa, Luigi; Colucci, Raffaella; De Benedictis, Antonella; Di Iorio, Valentina; Melillo, Paolo; Banfi, Sandro; Simonelli, Francesca
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
2025 Karali, Marianthi; García-García, Gema; Kaminska, Karolina; Altalbishi, Alaa; Cancellieri, Francesca; Testa, Francesco; Barillari, Maria Rosaria; Panagiotou, Evangelia S.; Psillas, George; Vaclavik, Veronika; Tran, Viet H.; Janeschitz-Kriegl, Lucas; Scholl, Hendrik Pn; Salameh, Manar; Barberán-Martínez, Pilar; Rodríguez-Muñoz, Ana; Armengot, Miguel; Scarpato, Margherita; Zeuli, Roberta; Quinodoz, Mathieu; Simonelli, Francesca; Rivolta, Carlo; Banfi, Sandro; Millán, José M.
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
2024 Dollfus, Hélène; R Lilien, Marc; Maffei, Pietro; Verloes, Alain; Muller, Jean; M Bacci, Giacomo; Cetiner, Metin; T van den Akker, Erica L; Grudzinska Pechhacker, Monika; Testa, Francesco; Lacombe, Didier; F Stokman, Marijn; Simonelli, Francesca; Gouronc, Aurélie; Gavard, Amélie; M van Haelst, Mieke; Koenig, Jens; Rossignol, Sylvie; Bergmann, Carsten; Zacchia, Miriam; P Leroy, Bart; Mosbah, Héléna; M Van Eerde, Albertien; Mekahli, Djalila; Servais, Aude; Poitou, Christine; Valverde, Diana
Fluorescein angiography patterns and subretinal hyperreflective material predict subthreshold micropulse laser response in chronic central serous chorioretinopathy
2024 Iovino, Claudio; Iodice, Clemente Maria; Damiano, Luciana; Pisani, Danila; Testa, Francesco; Rossi, Settimio; Simonelli, Francesca
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome
2024 De Falco, Alessandro; Karali, Marianthi; Criscuolo, Chiara; Testa, Francesco; Barillari, Maria Rosaria; Scarpato, Margherita; Gaudieri, Valeria; Cuocolo, Alberto; Russo, Anna; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro; Brunetti-Pierri, Nicola
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy
2024 Testa, Francesco; Carreño, Ester; van den Born, L Ingeborgh; Melillo, Paolo; Perea-Romero, Irene; Di Iorio, Valentina; Risca, Giulia; Iodice, Clemente Maria; Pennings, Ronald J E; Karali, Marianthi; Banfi, Sandro; Auricchio, Alberto; Galimberti, Stefania; Ayuso, Carmen; Simonelli, Francesca
Navigated yellow subthreshold micropulse laser for refractory cystoid macular edema following rhegmatogenous retinal detachment surgery
2024 Iovino, Claudio; Rosolia, Andrea; Marano, Ernesto; Della Corte, Michele; Testa, Francesco; Simonelli, Francesca
Objective Outcomes to Evaluate Voretigene Neparvovec Treatment Effects in Clinical Practice
2024 Melillo, Paolo; Testa, Francesco; Di Iorio, Valentina; Karali, Marianthi; Citro, Amelia; Della Corte, Michele; Rossi, Settimio; Banfi, Sandro; Simonelli, Francesca
Rare Eye Diseases Automatic Classification: A Deep Learning Approach
2024 Vitale, Jacopo; Pagnano Maria, E; Matarrese Margherita, Ag; Boccia, Rosa; Melillo, Paolo; Testa, Francesco; Simonelli, Francesca; Pecchia, Leandro
Ten Years of Experience With a Telemedicine Platform Dedicated to Health Care Personnel: Implementation Report
2024 Azzolini, Claudio; Premi, Elias; Donati, Simone; Falco, Andrea; Torreggiani, Aldo; Sicurello, Francesco; Baj, Andreina; Azzi, Lorenzo; Orro, Alessandro; Porta, Giovanni; Azzolini, Giovanna; Sorrentino, Marco; Melillo, Paolo; Testa, Francesco; Simonelli, Francesca; Giardina, Gianfranco; Paolucci, Umberto
Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice
2024 Testa, Francesco; Bacci, Giacomo; Falsini, Benedetto; Iarossi, Giancarlo; Melillo, Paolo; Mucciolo, Dario Pasquale; Murro, Vittoria; Salvetti, Anna Paola; Sodi, Andrea; Staurenghi, Giovanni; Simonelli, Francesca
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients
2024 Zeuli, Roberta; Karali, Marianthi; de Bruijn, Suzanne E; Rodenburg, Kim; Scarpato, Margherita; Capasso, Dalila; Astuti, Galuh D N; Gilissen, Christian; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Testa, Francesco; Simonelli, Francesca; Cremers, Frans P M; Banfi, Sandro; Roosing, Susanne
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
2023 Murro, Vittoria; Banfi, Sandro; Testa, Francesco; Iarossi, Giancarlo; Falsini, Benedetto; Sodi, Andrea; Signorini, Sabrina; Iolascon, Achille; Russo, Roberta; Mucciolo, Dario Pasquale; Caputo, Roberto; Bacci, Giacomo Maria; Bargiacchi, Sara; Turco, Simona; Fortini, Stefania; Simonelli, Francesca
Clinical Applications of Optical Coherence Tomography Angiography in Inherited Retinal Diseases: An Up-to-Date Review of the Literature
2023 Iovino, Claudio; Iodice, Clemente Maria; Pisani, Danila; Damiano, Luciana; Di Iorio, Valentina; Testa, Francesco; Simonelli, Francesca
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method
2023 Barretta, Ferdinando; Uomo, Fabiana; Caldora, Filomena; Mocerino, Rossella; Adamo, Daniela; Testa, Francesco; Simonelli, Francesca; Scudiero, Olga; Tinto, Nadia; Frisso, Giulia; Mazzaccara, Cristina
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
2023 Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Holtes, Lara K.; de Bruijn, Suzanne E.; Reurink, Janine; Boonen, Erica G. M.; Khan, Muhammad Imran; Ali, Manir; Andréasson, Sten; De Baere, Elfride; Banfi, Sandro; Bauwens, Miriam; Ben-Yosef, Tamar; Bocquet, Béatrice; De Bruyne, Marieke; Cerda, Berta de la; Coppieters, Frauke; Farinelli, Pietro; Guignard, Thomas; Inglehearn, Chris F.; Karali, Marianthi; Kjellström, Ulrika; Koenekoop, Robert; de Koning, Bart; Leroy, Bart P.; Mckibbin, Martin; Meunier, Isabelle; Nikopoulos, Konstantinos; Nishiguchi, Koji M.; Poulter, James A.; Rivolta, Carlo; Rodríguez de la Rúa, Enrique; Saunders, Patrick; Simonelli, Francesca; Tatour, Yasmin; Testa, Francesco; Thiadens, Alberta A. H. J.; Toomes, Carmel; Tracewska, Anna M.; Tran, Hoai Viet; Ushida, Hiroaki; Vaclavik, Veronika; Verhoeven, Virginie J. M.; van de Vorst, Maartje; Gilissen, Christian; Hoischen, Alexander; Cremers, Frans P. M.; Roosing, Susanne
Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B
2023 Ferla, Rita; Dell'Aquila, Fabio; Doria, Monica; Ferraiuolo, Maria; Noto, Alessia; Grazioli, Fabiana; Ammendola, Virginia; Testa, Francesco; Melillo, Paolo; Iodice, Carolina; Risca, Giulia; Tedesco, Novella; le Brun, Pierre Romain; Surace, Enrico Maria; Simonelli, Francesca; Galimberti, Stefania; Valsecchi, Maria Grazia; Marteau, Jean-Brice; Veron, Philippe; Colloca, Stefano; Auricchio, Alberto
Iatrogenic ophthalmic artery occlusion after platelet-rich plasma dermal filler documented with ultra-widefield imaging
2023 Iovino, Claudio; Testa, Francesco; Cristiano, Luigi; De Rosa, Luigi; De Rosa, Giuseppe; Simonelli, Francesca
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss | 1-gen-2025 | Scarpato, Margherita; Testa, Francesco; Nesti, Anna; Zeuli, Roberta; Boccia, Rosa; Auletta, Gennaro; Banfi, Sandro; Simonelli, Francesca; Karali, Marianthi | |
| Analysis of choriocapillaris vascular density in patients with retinitis pigmentosa caused by RPGR gene mutations | 1-gen-2025 | Gesualdo, Carlo; Rossi, Settimio; Iodice, Clemente Maria; Melillo, Paolo; Marano, Ernesto; Giudice, Antonio Del; Di Martino, Mauro; Testa, Francesco; Simonelli, Francesca | |
| Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort | 1-gen-2025 | Testa, Francesco; Karali, Marianthi; Boccia, Rosa; Pisani, Danila; Damiano, Luciana; Nicolò, Antonio; Madonna, Emanuele; De Rosa, Luigi; Colucci, Raffaella; De Benedictis, Antonella; Di Iorio, Valentina; Melillo, Paolo; Banfi, Sandro; Simonelli, Francesca | |
| Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss | 1-gen-2025 | Karali, Marianthi; García-García, Gema; Kaminska, Karolina; Altalbishi, Alaa; Cancellieri, Francesca; Testa, Francesco; Barillari, Maria Rosaria; Panagiotou, Evangelia S.; Psillas, George; Vaclavik, Veronika; Tran, Viet H.; Janeschitz-Kriegl, Lucas; Scholl, Hendrik Pn; Salameh, Manar; Barberán-Martínez, Pilar; Rodríguez-Muñoz, Ana; Armengot, Miguel; Scarpato, Margherita; Zeuli, Roberta; Quinodoz, Mathieu; Simonelli, Francesca; Rivolta, Carlo; Banfi, Sandro; Millán, José M. | |
| Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations | 1-gen-2024 | Dollfus, Hélène; R Lilien, Marc; Maffei, Pietro; Verloes, Alain; Muller, Jean; M Bacci, Giacomo; Cetiner, Metin; T van den Akker, Erica L; Grudzinska Pechhacker, Monika; Testa, Francesco; Lacombe, Didier; F Stokman, Marijn; Simonelli, Francesca; Gouronc, Aurélie; Gavard, Amélie; M van Haelst, Mieke; Koenig, Jens; Rossignol, Sylvie; Bergmann, Carsten; Zacchia, Miriam; P Leroy, Bart; Mosbah, Héléna; M Van Eerde, Albertien; Mekahli, Djalila; Servais, Aude; Poitou, Christine; Valverde, Diana | |
| Fluorescein angiography patterns and subretinal hyperreflective material predict subthreshold micropulse laser response in chronic central serous chorioretinopathy | 1-gen-2024 | Iovino, Claudio; Iodice, Clemente Maria; Damiano, Luciana; Pisani, Danila; Testa, Francesco; Rossi, Settimio; Simonelli, Francesca | |
| Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome | 1-gen-2024 | De Falco, Alessandro; Karali, Marianthi; Criscuolo, Chiara; Testa, Francesco; Barillari, Maria Rosaria; Scarpato, Margherita; Gaudieri, Valeria; Cuocolo, Alberto; Russo, Anna; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro; Brunetti-Pierri, Nicola | |
| Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy | 1-gen-2024 | Testa, Francesco; Carreño, Ester; van den Born, L Ingeborgh; Melillo, Paolo; Perea-Romero, Irene; Di Iorio, Valentina; Risca, Giulia; Iodice, Clemente Maria; Pennings, Ronald J E; Karali, Marianthi; Banfi, Sandro; Auricchio, Alberto; Galimberti, Stefania; Ayuso, Carmen; Simonelli, Francesca | |
| Navigated yellow subthreshold micropulse laser for refractory cystoid macular edema following rhegmatogenous retinal detachment surgery | 1-gen-2024 | Iovino, Claudio; Rosolia, Andrea; Marano, Ernesto; Della Corte, Michele; Testa, Francesco; Simonelli, Francesca | |
| Objective Outcomes to Evaluate Voretigene Neparvovec Treatment Effects in Clinical Practice | 1-gen-2024 | Melillo, Paolo; Testa, Francesco; Di Iorio, Valentina; Karali, Marianthi; Citro, Amelia; Della Corte, Michele; Rossi, Settimio; Banfi, Sandro; Simonelli, Francesca | |
| Rare Eye Diseases Automatic Classification: A Deep Learning Approach | 1-gen-2024 | Vitale, Jacopo; Pagnano Maria, E; Matarrese Margherita, Ag; Boccia, Rosa; Melillo, Paolo; Testa, Francesco; Simonelli, Francesca; Pecchia, Leandro | |
| Ten Years of Experience With a Telemedicine Platform Dedicated to Health Care Personnel: Implementation Report | 1-gen-2024 | Azzolini, Claudio; Premi, Elias; Donati, Simone; Falco, Andrea; Torreggiani, Aldo; Sicurello, Francesco; Baj, Andreina; Azzi, Lorenzo; Orro, Alessandro; Porta, Giovanni; Azzolini, Giovanna; Sorrentino, Marco; Melillo, Paolo; Testa, Francesco; Simonelli, Francesca; Giardina, Gianfranco; Paolucci, Umberto | |
| Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice | 1-gen-2024 | Testa, Francesco; Bacci, Giacomo; Falsini, Benedetto; Iarossi, Giancarlo; Melillo, Paolo; Mucciolo, Dario Pasquale; Murro, Vittoria; Salvetti, Anna Paola; Sodi, Andrea; Staurenghi, Giovanni; Simonelli, Francesca | |
| Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients | 1-gen-2024 | Zeuli, Roberta; Karali, Marianthi; de Bruijn, Suzanne E; Rodenburg, Kim; Scarpato, Margherita; Capasso, Dalila; Astuti, Galuh D N; Gilissen, Christian; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Testa, Francesco; Simonelli, Francesca; Cremers, Frans P M; Banfi, Sandro; Roosing, Susanne | |
| A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice | 1-gen-2023 | Murro, Vittoria; Banfi, Sandro; Testa, Francesco; Iarossi, Giancarlo; Falsini, Benedetto; Sodi, Andrea; Signorini, Sabrina; Iolascon, Achille; Russo, Roberta; Mucciolo, Dario Pasquale; Caputo, Roberto; Bacci, Giacomo Maria; Bargiacchi, Sara; Turco, Simona; Fortini, Stefania; Simonelli, Francesca | |
| Clinical Applications of Optical Coherence Tomography Angiography in Inherited Retinal Diseases: An Up-to-Date Review of the Literature | 1-gen-2023 | Iovino, Claudio; Iodice, Clemente Maria; Pisani, Danila; Damiano, Luciana; Di Iorio, Valentina; Testa, Francesco; Simonelli, Francesca | |
| Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method | 1-gen-2023 | Barretta, Ferdinando; Uomo, Fabiana; Caldora, Filomena; Mocerino, Rossella; Adamo, Daniela; Testa, Francesco; Simonelli, Francesca; Scudiero, Olga; Tinto, Nadia; Frisso, Giulia; Mazzaccara, Cristina | |
| Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis | 1-gen-2023 | Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Holtes, Lara K.; de Bruijn, Suzanne E.; Reurink, Janine; Boonen, Erica G. M.; Khan, Muhammad Imran; Ali, Manir; Andréasson, Sten; De Baere, Elfride; Banfi, Sandro; Bauwens, Miriam; Ben-Yosef, Tamar; Bocquet, Béatrice; De Bruyne, Marieke; Cerda, Berta de la; Coppieters, Frauke; Farinelli, Pietro; Guignard, Thomas; Inglehearn, Chris F.; Karali, Marianthi; Kjellström, Ulrika; Koenekoop, Robert; de Koning, Bart; Leroy, Bart P.; Mckibbin, Martin; Meunier, Isabelle; Nikopoulos, Konstantinos; Nishiguchi, Koji M.; Poulter, James A.; Rivolta, Carlo; Rodríguez de la Rúa, Enrique; Saunders, Patrick; Simonelli, Francesca; Tatour, Yasmin; Testa, Francesco; Thiadens, Alberta A. H. J.; Toomes, Carmel; Tracewska, Anna M.; Tran, Hoai Viet; Ushida, Hiroaki; Vaclavik, Veronika; Verhoeven, Virginie J. M.; van de Vorst, Maartje; Gilissen, Christian; Hoischen, Alexander; Cremers, Frans P. M.; Roosing, Susanne | |
| Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B | 1-gen-2023 | Ferla, Rita; Dell'Aquila, Fabio; Doria, Monica; Ferraiuolo, Maria; Noto, Alessia; Grazioli, Fabiana; Ammendola, Virginia; Testa, Francesco; Melillo, Paolo; Iodice, Carolina; Risca, Giulia; Tedesco, Novella; le Brun, Pierre Romain; Surace, Enrico Maria; Simonelli, Francesca; Galimberti, Stefania; Valsecchi, Maria Grazia; Marteau, Jean-Brice; Veron, Philippe; Colloca, Stefano; Auricchio, Alberto | |
| Iatrogenic ophthalmic artery occlusion after platelet-rich plasma dermal filler documented with ultra-widefield imaging | 1-gen-2023 | Iovino, Claudio; Testa, Francesco; Cristiano, Luigi; De Rosa, Luigi; De Rosa, Giuseppe; Simonelli, Francesca |