Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families von Maltese, Paolo Enrico, Orlova, Nina, Krasikova, Eugenia, Emelyanchik, Elena, Cheremisina, Anna, Kuscaeva, Alina, Salmina, Alla, Miotto, Roberta, Bonizzato, Alice, Guerri, Giulia, Zuntini, Monia, Nicoulina, Svetlana, Bertelli, Matteo

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Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters von Gatticchi, Leonardo, Vešelényiová, Dominika, Miertus, Jan, Enrico Maltese, Paolo, Manara, Elena, Costantini, Alisia, Benedetti, Sabrina, Ďurovčíková, Darina, Krajcovic, Juraj, Bertelli, Matteo

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Editorial: The genetics of inherited retinal diseases in understudied ethnic groups: Novel associations, challenges, and perspectives von El Shamieh, Said, Maltese, Paolo Enrico

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Aldo-Keto Reductase 1C1 ( AKR1C1 ) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema von Michelini, Sandro, Chiurazzi, Pietro, Marino, Valerio, Dell'Orco, Daniele, Manara, Elena, Baglivo, Mirko, Fiorentino, Alessandro, Maltese, Paolo Enrico, Pinelli, Michele, Herbst, Karen Louise, Dautaj, Astrit, Bertelli, Matteo

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A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase von Biasi, Amedeo, Marino, Valerio, Dal Cortivo, Giuditta, Maltese, Paolo Enrico, Modarelli, Antonio Mattia, Bertelli, Matteo, Colombo, Leonardo, Dell’Orco, Daniele

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FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation von Tavian, Daniela, Missaglia, Sara, Michelini, Sandro, Maltese, Paolo Enrico, Manara, Elena, Mordente, Alvaro, Bertelli, Matteo

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Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series von Cannarella, Rossella, Gusmano, Carmelo, Condorelli, Rosita A, Bernini, Andrea, Kaftalli, Jurgen, Maltese, Paolo Enrico, Paolacci, Stefano, Dautaj, Astrit, Marceddu, Giuseppe, Bertelli, Matteo, La Vignera, Sandro, Calogero, Aldo E

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Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways von Bonetti, Gabriele, Paolacci, Stefano, Samaja, Michele, Maltese, Paolo Enrico, Michelini, Sandro, Michelini, Serena, Michelini, Silvia, Ricci, Maurizio, Cestari, Marina, Dautaj, Astrit, Medori, Maria Chiara, Bertelli, Matteo

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Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells von Marino, Valerio, Dal Cortivo, Giuditta, Maltese, Paolo Enrico, Placidi, Giorgio, De Siena, Elisa, Falsini, Benedetto, Bertelli, Matteo, Dell’Orco, Daniele

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Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy von Falsini, Benedetto, Placidi, Giorgio, De Siena, Elisa, Chiurazzi, Pietro, Minnella, Angelo Maria, Savastano, Maria Cristina, Ziccardi, Lucia, Parisi, Vincenzo, Iarossi, Giancarlo, Percio, Marcella, Piteková, Barbora, Marceddu, Giuseppe, Maltese, Paolo Enrico, Bertelli, Matteo

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A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and mic... von Placidi, Giorgio, D'Agostino, Elena, Maltese, Paolo Enrico, Savastano, Maria Cristina, Gambini, Gloria, Rizzo, Stanislao, Bonetti, Gabriele, Bertelli, Matteo, Chiurazzi, Pietro, Falsini, Benedetto

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Expanding the Clinical and Genetic Spectrum of RAB28 -Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families von Iarossi, Giancarlo, Marino, Valerio, Maltese, Paolo Enrico, Colombo, Leonardo, D'Esposito, Fabiana, Manara, Elena, Dhuli, Kristjana, Modarelli, Antonio Mattia, Cennamo, Gilda, Magli, Adriano, Dell'Orco, Daniele, Bertelli, Matteo

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Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes von Iarossi, Giancarlo, Coppè, Andrea Maria, Passarelli, Chiara, Maltese, Paolo Enrico, Sinibaldi, Lorenzo, Cappelli, Alessandro, Cetola, Sarah, Novelli, Antonio, Buzzonetti, Luca

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High Concordance of KRAS Status Between Primary Colorectal Tumors and Related Metastatic Sites: Implications for Clinical Practice von Santini, Daniele, Loupakis, Fotios, Vincenzi, Bruno, Floriani, Irene, Stasi, Irene, Canestrari, Emanuele, Rulli, Eliana, Maltese, Paolo Enrico, Andreoni, Francesca, Masi, Gianluca, Graziano, Francesco, Baldi, Giacomo Giulio, Salvatore, Lisa, Russo, Antonio, Perrone, Giuseppe, Tommasino, Maria Rosa, Magnani, Mauro, Falcone, Alfredo, Tonini, Giuseppe, Ruzzo, Annamaria

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Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals von Maltese, Paolo Enrico, Colombo, Leonardo, Martella, Salvatore, Rossetti, Luca, El Shamieh, Said, Sinibaldi, Lorenzo, Passarelli, Chiara, Coppè, Andrea Maria, Buzzonetti, Luca, Falsini, Benedetto, Chiurazzi, Pietro, Placidi, Giorgio, Tanzi, Benedetta, Bertelli, Matteo, Iarossi, Giancarlo

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Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study von Manara, Elena, Paolacci, Stefano, D'Esposito, Fabiana, Abeshi, Andi, Ziccardi, Lucia, Falsini, Benedetto, Colombo, Leonardo, Iarossi, Giancarlo, Pilotta, Alba, Boccone, Loredana, Guerri, Giulia, Monica, Marica, Marta, Balzarini, Maltese, Paolo Enrico, Buzzonetti, Luca, Rossetti, Luca, Bertelli, Matteo

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RP1 Dominant p.Ser740 Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily von D'Esposito, Fabiana, Randazzo, Viviana, Vega, Maria Igea, Esposito, Gabriella, Maltese, Paolo Enrico, Torregrossa, Salvatore, Scibetta, Paola, Listì, Florinda, Gagliano, Caterina, Scalia, Lucia, Pioppo, Antonino, Marino, Antonio, Piergentili, Marco, Malvone, Emanuele, Fioretti, Tiziana, Vitrano, Angela, Piccione, Maria, Avitabile, Teresio, Salvatore, Francesco, Bertelli, Matteo, Costagliola, Ciro, Cordeiro, Maria Francesca, Maggio, Aurelio, D'Alcamo, Elena

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A very early diagnosis of Alstrӧm syndrome by next generation sequencing von Gatticchi, Leonardo, Miertus, Jan, Maltese, Paolo Enrico, Bressan, Simone, De Antoni, Luca, Podracká, Ludmila, Piteková, Lucia, Rísová, Vanda, Mällo, Mari, Jaakson, Kaie, Joost, Kairit, Colombo, Leonardo, Bertelli, Matteo

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Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy von Placidi, Giorgio, Maltese, Paolo Enrico, Savastano, Maria Cristina, D'Agostino, Elena, Cestrone, Valentina, Bertelli, Matteo, Chiurazzi, Pietro, Maceroni, Martina, Minnella, Angelo Maria, Ziccardi, Lucia, Parisi, Vincenzo, Rizzo, Stanislao, Falsini, Benedetto

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Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology von Frecer, Vladimir, Iarossi, Giancarlo, Salvetti, Anna Paola, Maltese, Paolo Enrico, Delledonne, Giulia, Oldani, Marta, Staurenghi, Giovanni, Falsini, Benedetto, Minnella, Angelo Maria, Ziccardi, Lucia, Magli, Adriano, Colombo, Leonardo, D'Esposito, Fabiana, Miertus, Jan, Viola, Francesco, Attanasio, Marcella, Maggio, Emilia, Bertelli, Matteo

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