The complex landscape of DMD mutations: moving towards personalized medicine by Francesca Gatto, Silvia Benemei, Giulio Piluso, Luca Bello

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Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations by Cristina Peduto, Mariateresa Zanobio, Vincenzo Nigro, Silverio Perrotta, Giulio Piluso, Claudia Santoro

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A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity by Domenico Roberti, Renata Conforti, Teresa Giugliano, Barbara Brogna, Immacolata Tartaglione, Maddalena Casale, Giulio Piluso, Silverio Perrotta

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Alu-Mediated Insertions in the <i>DMD</i> Gene: A Difficult Puzzle to Interpret Clinically by Annalaura Torella, Alberto Budillon, Mariateresa Zanobio, Francesca Del Vecchio Blanco, Esther Picillo, Luisa Politano, Vincenzo Nigro, Giulio Piluso

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Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy by Emanuela Viggiano, Esther Picillo, Luigia Passamano, Maria Elena Onore, Giulio Piluso, Marianna Scutifero, Annalaura Torella, Vincenzo Nigro, Luisa Politano

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A Novel Homozygous Loss-of-Function Variant in <i>SPRED2</i> Causes Autosomal Recessive Noonan-like Syndrome by Maria Elena Onore, Martina Caiazza, Antonella Farina, Gioacchino Scarano, Alberto Budillon, Rossella Nicoletta Borrelli, Giuseppe Limongelli, Vincenzo Nigro, Giulio Piluso

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Linked-Read Whole Genome Sequencing Solves a Double <i>DMD</i> Gene Rearrangement by Maria Elena Onore, Annalaura Torella, Francesco Musacchia, Paola D’Ambrosio, Mariateresa Zanobio, Francesca Del Vecchio Blanco, Giulio Piluso, Vincenzo Nigro

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Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region. by Serena Capasso, Giovanna Cardiero, Gennaro Musollino, Romeo Prezioso, Rosario Testa, Sabrina Dembech, Giulio Piluso, Vincenzo Nigro, F Anna Digilio, Giuseppina Lacerra

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Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough? by Claudia Santoro, Pia Bernardo, Antonietta Coppola, Umberto Pugliese, Mario Cirillo, Teresa Giugliano, Giulio Piluso, Giuseppe Cinalli, Salvatore Striano, Carmela Bravaccio, Silverio Perrotta

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Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. by Claudia Santoro, Teresa Giugliano, Markus Kraemer, Annalaura Torella, Jan Claudius Schwitalla, Mario Cirillo, Daniela Melis, Peter Berlit, Vincenzo Nigro, Silverio Perrotta, Giulio Piluso

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A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report by Claudia Santoro, Teresa Giugliano, Pia Bernardo, Federica Palladino, Annalaura Torella, Francesca del Vecchio Blanco, Maria Elena Onore, Marco Carotenuto, Vincenzo Nigro, Giulio Piluso

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Enhancer chip: detecting human copy number variations in regulatory elements. by Marco Savarese, Giulio Piluso, Daniela Orteschi, Giuseppina Di Fruscio, Manuela Dionisi, Francesca del Vecchio Blanco, Annalaura Torella, Teresa Giugliano, Michele Iacomino, Marcella Zollino, Giovanni Neri, Vincenzo Nigro

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Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapy. by Ida Luisa Rotundo, Stefania Faraso, Elvira De Leonibus, Gerardo Nigro, Carmen Vitiello, Alessio Lancioni, Daniele Di Napoli, Sigismondo Castaldo, Vincenzo Russo, Fabio Russo, Giulio Piluso, Alberto Auricchio, Vincenzo Nigro

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Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. by Annalaura Torella, Marina Fanin, Margherita Mutarelli, Enrico Peterle, Francesca Del Vecchio Blanco, Rossella Rispoli, Marco Savarese, Arcomaria Garofalo, Giulio Piluso, Lucia Morandi, Giulia Ricci, Gabriele Siciliano, Corrado Angelini, Vincenzo Nigro

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Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense <i>RNF213</i> Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literatu... by Claudia Santoro, Giuseppe Mirone, Mariateresa Zanobio, Giusy Ranucci, Alessandra D’Amico, Domenico Cicala, Maria Iascone, Pia Bernardo, Vincenzo Piccolo, Andrea Ronchi, Giuseppe Limongelli, Marco Carotenuto, Vincenzo Nigro, Giuseppe Cinalli, Giulio Piluso

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent <i>NF1</i> Gene Variants and Correlations with Neurocognitive Phenotype by Filomena Napolitano, Milena Dell’Aquila, Chiara Terracciano, Giuseppina Franzese, Maria Teresa Gentile, Giulio Piluso, Claudia Santoro, Davide Colavito, Anna Patanè, Paolo De Blasiis, Simone Sampaolo, Simona Paladino, Mariarosa Anna Beatrice Melone

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Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies by Miriam Zacchia, Giovanna Capolongo, Francesca Del Vecchio Blanco, Floriana Secondulfo, Neha Gupta, Giancarlo Blasio, Rosa Maria Pollastro, Angela Cervesato, Giulio Piluso, Giuseppe Gigliotti, Annalaura Torella, Vincenzo Nigro, Alessandra F. Perna, Giovambattista Capasso, Francesco Trepiccione

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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort by Rosina Paterra, Paola Bettinaglio, Arianna Borghi, Eleonora Mangano, Viviana Tritto, Claudia Cesaretti, Carla Schettino, Roberta Bordoni, Claudia Santoro, Sabrina Avignone, Marco Moscatelli, Mariarosa Anna Beatrice Melone, Veronica Saletti, Giulio Piluso, Federica Natacci, Paola Riva, Marica Eoli

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Therapeutic homology-independent targeted integration in retina and liver by Patrizia Tornabene, Rita Ferla, Manel Llado-Santaeularia, Miriam Centrulo, Margherita Dell’Anno, Federica Esposito, Elena Marrocco, Emanuela Pone, Renato Minopoli, Carolina Iodice, Edoardo Nusco, Settimio Rossi, Hristiana Lyubenova, Anna Manfredi, Lucio Di Filippo, Antonella Iuliano, Annalaura Torella, Giulio Piluso, Francesco Musacchia, Enrico Maria Surace, Davide Cacchiarelli, Vincenzo Nigro, Alberto Auricchio

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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 by Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Hanns Lochmüller, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

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