IRIS

KARALI, MARIANTHI

KARALI, MARIANTHI  

Dipartimento di Medicina di Precisione  

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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa 1-gen-2026 Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; De Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; Altalbishi, Ala'A; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin Des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; De La Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R De J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; Mckibbin, Martin; Mclaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; Van Aerschot, Joseph; Van Den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo
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
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
Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration 1-gen-2025 Salameh, Manar; Abu Tair, Ghadeer; Mousa, Samira; Obolensky, Alexey; Swaroop, Anand; Roosing, Susanne; Mezer, Eedy; Soudry, Shiri; Karali, Marianthi; Simonelli, Francesca; Banfi, Sandro; Banin, Eyal; Ben-Yosef, Tamar; Sharon, Dror; Khateb, Samer
In vitro high-content screening reveals miR-429 as a protective molecule in photoreceptor degeneration 1-gen-2025 Petrogiannakis, G.; Guadagnino, I.; Negueruela, S.; Di Guida, M.; Marrocco, E.; Pizzo, M.; Torella, A.; Zanobio, M.; Karali, M.; Medina, D. L.; Carrella, S.; Banfi, S.
RetiGene, a comprehensive gene atlas for inherited retinal diseases 1-gen-2025 Rivolta, Carlo; Celik, Elifnaz; Kamdar, Dhryata; Cancellieri, Francesca; Kaminska, Karolina; Ullah, Mukhtar; Barberán-Martínez, Pilar; Bouckaert, Manon; Cortón, Marta; Delanote, Emma; Fernández-Caballero, Lidia; García García, Gema; Holtes, Lara K; Karali, Marianthi; Lopez, Irma; Peter, Virginie G; Schneider, Nina; Vincke, Lieselot; Ayuso, Carmen; Banfi, Sandro; Bocquet, Beatrice; Coppieters, Frauke; Cremers, Frans P M; Inglehearn, Chris F; Iwata, Takeshi; Kalatzis, Vasiliki; Koenekoop, Robert K; Millán, José M; Sharon, Dror; Toomes, Carmel; Quinodoz, Mathieu
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies 1-gen-2025 Capasso, Dalila; Zeuli, Roberta; Arno, Gavin; Kwint, Michael; Timmermans, Raoul; Ruiz-Ceja, Karla A; Karali, Marianthi; Simonelli, Francesca; Signorini, Sabrina; Valente, Enza Maria; Cremers, Frans Pm; Banfi, Sandro; Roosing, Susanne; Panneman, Daan M; de Bruijn, Suzanne E
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.
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
Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy 1-gen-2024 Corradi, Zelia; Dhaenens, Claire-Marie; Grunewald, Olivier; Kocabaş, Ipek Selen; Meunier, Isabelle; Banfi, Sandro; Karali, Marianthi; Cremers, Frans P. M.; Hitti-Malin, Rebekkah J.
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
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy 1-gen-2024 Cornelis, Stéphanie S.; Inthout, Joanna; Runhart, Esmee H.; Grunewald, Olivier; Lin, Siying; Corradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah J.; Whelan, Laura; Farrar, G. Jane; Sharon, Dror; van den Born, L. Ingeborgh; Arno, Gavin; Simcoe, Mark; Michaelides, Michel; Webster, Andrew R.; Roosing, Susanne; Mahroo, Omar A.; Dhaenens, Claire-Marie; Cremers, Frans P. M.; Null, Null; Altalbishi, Ala'A; Ayuso, Carmen; Banfi, Sandro; Banin, Eyal; Ben-Yosef, Tamar; Bolz, Hanno J.; Dockery, Adrian; Downes, Susan; Fakin, Ana; Gorin, Michael B.; Heon, Elise; Hoyng, Carel B.; Inglehearn, Chris F.; Karali, Marianthi; Kämpjärvi, Kati; Klaver, Caroline C. W.; Liskova, Petra; Oldak, Monika; Plomp, Astrid S.; Sajovic, Jana; Stöhr, Heidi; Szaflik, Jacek P.; Thiadens, Alberta A. H. J.; Tracewska, Anna M.; Vajter, Marie; Verheij, Joke B. G. M.; Weber, Bernhard H. F.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes 1-gen-2024 Hitti-Malin, Rebekkah J.; Panneman, Daan M.; Corradi, Zelia; Boonen, Erica G. M.; Astuti, Galuh; Dhaenens, Claire-Marie; Stöhr, Heidi; Weber, Bernhard H. F.; Sharon, Dror; Banin, Eyal; Karali, Marianthi; Banfi, Sandro; Ben-Yosef, Tamar; Glavač, Damjan; Farrar, G. Jane; Ayuso, Carmen; Liskova, Petra; Dudakova, Lubica; Vajter, Marie; Ołdak, Monika; Szaflik, Jacek P.; Matynia, Anna; Gorin, Michael B.; Kämpjärvi, Kati; Bauwens, Miriam; De Baere, Elfride; Hoyng, Carel B.; Li, Catherina H. Z.; Klaver, Caroline C. W.; Inglehearn, Chris F.; Fujinami, Kaoru; Rivolta, Carlo; Allikmets, Rando; Zernant, Jana; Lee, Winston; Podhajcer, Osvaldo L.; Fakin, Ana; Sajovic, Jana; Altalbishi, Alaa; Valeina, Sandra; Taurina, Gita; Vincent, Andrea L.; Roberts, Lisa; Ramesar, Raj; Sartor, Giovanna; Luppi, Elena; Downes, Susan M.; Van Den Born, L. Ingeborgh; Mclaren, Terri L.; De Roach, John N.; Lamey, Tina M.; Thompson, Jennifer A.; Chen, Fred K.; Tracewska, Anna M.; Kamakari, Smaragda; Sallum, Juliana Maria Ferraz; Bolz, Hanno J.; Kayserili, Hülya; Roosing, Susanne; Cremers, Frans P. M.
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
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
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 1-gen-2022 Karali, Marianthi; Testa, Francesco; Di Iorio, Valentina; Torella, Annalaura; Zeuli, Roberta; Scarpato, Margherita; Romano, Francesca; Onore, Maria Elena; Pizzo, Mariateresa; Melillo, Paolo; Brunetti-Pierri, Raffaella; Passerini, Ilaria; Pelo, Elisabetta; Cremers, Frans P M; Esposito, Gabriella; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study 1-gen-2022 Testa, F.; Murro, V.; Signorini, S.; Colombo, L.; Iarossi, G.; Parmeggiani, F.; Falsini, B.; Salvetti, A. P.; Brunetti-Pierri, R.; Aprile, G.; Bertone, C.; Suppiej, A.; Romano, F.; Karali, M.; Donati, S.; Melillo, P.; Sodi, A.; Quaranta, L.; Rossetti, L.; Buzzonetti, L.; Chizzolini, M.; Rizzo, S.; Staurenghi, G.; Banfi, S.; Azzolini, C.; Simonelli, F.
Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy 1-gen-2022 Testa, Francesco; Melillo, Paolo; Di Iorio, Valentina; Iovino, Claudio; Farinaro, Francesco; Karali, Marianthi; Banfi, Sandro; Rossi, Settimio; Della Corte, Michele; Simonelli, Francesca
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study 1-gen-2021 Brunetti-Pierri, Raffaella; Karali, Marianthi; Melillo, Paolo; Di Iorio, Valentina; De Benedictis, Antonella; Iaccarino, Gennarfrancesco; Testa, Francesco; Banfi, Sandro; Simonelli, Francesca