Sophisticated Gene Regulation for a Complex Physiological System: The Role of Non-coding RNAs in Photoreceptor Cells

by Sabrina Carrella, Sabrina Carrella, Sandro Banfi, Sandro Banfi, Marianthi Karali, Marianthi Karali
Published 2021-01-01

Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction.

by Gabriella Cotugno, Patrizia Annunziata, Maria Vittoria Barone, Marianthi Karali, Sandro Banfi, Alberto Auricchio
Published 2012-01-01

VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage

by Francesco Musacchia, Marianthi Karali, Annalaura Torella, Steve Laurie, Valeria Policastro, Mariateresa Pizzo, Sergi Beltran, Giorgio Casari, Vincenzo Nigro, Sandro Banfi
Published 2021-12-01

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study

by Raffaella Brunetti-Pierri, Marianthi Karali, Paolo Melillo, Valentina Di Iorio, Antonella De Benedictis, Gennarfrancesco Iaccarino, Francesco Testa, Sandro Banfi, Francesca Simonelli
Published 2021-02-01

Inherited Retinal Diseases Due to <i>RPE65</i> Variants: From Genetic Diagnostic Management to Therapy

by Manar Aoun, Ilaria Passerini, Pietro Chiurazzi, Marianthi Karali, Irene De Rienzo, Giovanna Sartor, Vittoria Murro, Natalia Filimonova, Marco Seri, Sandro Banfi
Published 2021-07-01

Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy

by Francesco Testa, Paolo Melillo, Valentina Di Iorio, Claudio Iovino, Francesco Farinaro, Marianthi Karali, Sandro Banfi, Settimio Rossi, Michele Della Corte, Francesca Simonelli
Published 2022-10-01

Novel and Recurrent Copy Number Variants in <i>ABCA4</i>-Associated Retinopathy

by Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, Ipek Selen Kocabaş, Isabelle Meunier, Sandro Banfi, Marianthi Karali, Frans P. M. Cremers, Rebekkah J. Hitti-Malin
Published 2024-05-01

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies

by Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, Mariaelena Filippelli, Giuseppina Di Fruscio, Mariateresa Pizzo, Margherita Mutarelli, Vincenzo Nigro, Francesco Testa, Sandro Banfi, Francesca Simonelli
Published 2017-10-01

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating Variants

by Raffaella Brunetti-Pierri, Marianthi Karali, Francesco Testa, Gerarda Cappuccio, Maria Elena Onore, Francesca Romano, Giuseppe De Rosa, Enrico Tedeschi, Nicola Brunetti-Pierri, Sandro Banfi, Francesca Simonelli
Published 2021-07-01

Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female

by Maria Rosaria Barillari, Marianthi Karali, Valentina Di Iorio, Maria Contaldo, Vincenzo Piccolo, Maria Esposito, Giuseppe Costa, Giuseppe Argenziano, Rosario Serpico, Marco Carotenuto, Gerarda Cappuccio, Sandro Banfi, Paolo Melillo, Francesca Simonelli
Published 2020-09-01

MicroRNA-restricted transgene expression in the retina.

by Marianthi Karali, Anna Manfredi, Agostina Puppo, Elena Marrocco, Annagiusi Gargiulo, Mariacarmela Allocca, Michele Della Corte, Settimio Rossi, Massimo Giunti, Maria Laura Bacci, Francesca Simonelli, Enrico Maria Surace, Sandro Banfi, Alberto Auricchio
Published 2011-01-01

Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients

by Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing
Published 2024-07-01

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

by Marianthi Karali, Francesco Testa, Valentina Di Iorio, Annalaura Torella, Roberta Zeuli, Margherita Scarpato, Francesca Romano, Maria Elena Onore, Mariateresa Pizzo, Paolo Melillo, Raffaella Brunetti-Pierri, Ilaria Passerini, Elisabetta Pelo, Frans P. M. Cremers, Gabriella Esposito, Vincenzo Nigro, Francesca Simonelli, Sandro Banfi
Published 2022-12-01

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

by Daan M. Panneman, Daan M. Panneman, Rebekkah J. Hitti-Malin, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Suzanne E. de Bruijn, Janine Reurink, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Elfride De Baere, Sandro Banfi, Sandro Banfi, Miriam Bauwens, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Béatrice Bocquet, Marieke De Bruyne, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Frauke Coppieters, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Bart P. Leroy, Bart P. Leroy, Bart P. Leroy, Martin McKibbin, Martin McKibbin, Isabelle Meunier, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Carlo Rivolta, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Christian Gilissen, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen, Frans P. M. Cremers, Frans P. M. Cremers, Susanne Roosing, Susanne Roosing
Published 2023-02-01

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

by Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Published 2024-03-01