The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene von Torella, Annalaura, Zanobio, Mariateresa, Zeuli, Roberta, del Vecchio Blanco, Francesca, Savarese, Marco, Giugliano, Teresa, Garofalo, Arcomaria, Piluso, Giulio, Politano, Luisa, Nigro, Vincenzo

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

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An atypical Aymé‐Gripp phenotype detected by exome sequencing von Caiazza, Martina, Budillon, Alberto, Monda, Emanuele, Aruta, Giustina, Esposito, Augusto, Del Vecchio Blanco, Francesca, Piluso, Giulio, Nigro, Vincenzo, Scarano, Gioacchino, Limongelli, Giuseppe

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RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome von Sambri, Irene, Ferniani, Marco, Campostrini, Giulia, Testa, Marialuisa, Meraviglia, Viviana, de Araujo, Mariana E. G., Dokládal, Ladislav, Vilardo, Claudia, Monfregola, Jlenia, Zampelli, Nicolina, Vecchio Blanco, Francesca Del, Torella, Annalaura, Ruosi, Carolina, Fecarotta, Simona, Parenti, Giancarlo, Staiano, Leopoldo, Bellin, Milena, Huber, Lukas A., De Virgilio, Claudio, Trepiccione, Francesco, Nigro, Vincenzo, Ballabio, Andrea

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

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Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders von Giugliano, Teresa, Santoro, Claudia, Torella, Annalaura, Del Vecchio Blanco, Francesca, Grandone, Anna, Onore, Maria Elena, Melone, Mariarosa Anna Beatrice, Straccia, Giulia, Melis, Daniela, Piccolo, Vincenzo, Limongelli, Giuseppe, Buono, Salvatore, Perrotta, Silverio, Nigro, Vincenzo, Piluso, Giulio

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A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect von Fontana, Paolo, Budillon, Alberto, Simeone, Domenico, Del Vecchio Blanco, Francesca, Caiazza, Martina, D'Amico, Alessandra, Lonardo, Fortunato, Nigro, Vincenzo, Limongelli, Giuseppe, Scarano, Gioacchino

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UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism von Giugliano, Teresa, Santoro, Claudia, Torella, Annalaura, Del Vecchio Blanco, Francesca, Bernardo, Pia, Nigro, Vincenzo, Piluso, Giulio

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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 von Santoro, Claudia, Giugliano, Teresa, Bernardo, Pia, Palladino, Federica, Torella, Annalaura, Del Vecchio Blanco, Francesca, Onore, Maria Elena, Carotenuto, Marco, Nigro, Vincenzo, Piluso, Giulio

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

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

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Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells von Marchese, Emanuela, Caterino, Marianna, Viggiano, Davide, Cevenini, Armando, Tolone, Salvatore, Docimo, Ludovico, Di Iorio, Valentina, Del Vecchio Blanco, Francesca, Fedele, Roberta, Simonelli, Francesca, Perna, Alessandra, Nigro, Vincenzo, Capasso, Giovambattista, Ruoppolo, Margherita, Zacchia, Miriam

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Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients von Zacchia, Miriam, Blanco, Francesca Del Vecchio, Torella, Annalaura, Raucci, Raffaele, Blasio, Giancarlo, Onore, Maria Elena, Marchese, Emanuela, Trepiccione, Francesco, Vitagliano, Caterina, Iorio, Valentina Di, Alessandra, Perna, Simonelli, Francesca, Nigro, Vincenzo, Capasso, Giovambattista, Viggiano, Davide

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Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders von PILUSO, Giulio, DIONISI, Manuela, CRISCUOLO, Chiara, POLITANO, Luisa, CASALI, Carlo, SANTORELLI, Filippo Maria, NIGRO, Vincenzo, DEL VECCHIO BLANCO, Francesca, TORELLA, Annalaura, AURINO, Stefania, SAVARESE, Marco, GIUGLIANO, Teresa, BERTINI, Enrico, TERRACCIANO, Alessandra, VAINZOF, Mariz

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Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency von Di Dato, Fabiola, Capalbo, Donatella, Mirra, Rita, Del Vecchio Blanco, Francesca, Salerno, Mariacarolina, Iorio, Raffaele

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Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas : a possible mechanism for altering the nm23-H1 activity von FORUS, Anne, D'ANGELO, Anna, MÜLLER, Christoph, SANVITO, Francesca, KONONEN, Juha, NESLAND, Jahn M, FODSTAD, Øystein, REYMOND, Alexandre, KALLIONIEMI, Olli-P, ARRIGONI, Gianluigi, BALLABIO, Andrea, MYKLEBOST, Ola, HENRIKSEN, Jørn, ZOLLO, Massimo, MERLA, Giuseppe, MAELANDSMO, Gunhild M, FLØRENES, Vivi Ann, OLIVIERI, Stefano, BJERKEHAGEN, Bodil, MEZA-ZEPEDA, Leonardo A, DEL VECCHIO BLANCO, Francesca

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Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature von Grandone, Anna, Del Vecchio Blanco, Francesca, Torella, Annalaura, Caruso, Manuela, De Luca, Filippo, Di Mase, Raffaella, Messina, Maria Francesca, Salerno, Maria Carolina, Sallemi, Alessia, Perone, Lucia, Marzuillo, Pierluigi, Miraglia Del Giudice, Emanuele, Nigro, Vincenzo, Perrone, Laura

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

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One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography von Torella, Annalaura, Trimarco, Amelia, Del Vecchio Blanco, Francesca, Cuomo, Anna, Aurino, Stefania, Piluso, Giulio, Minetti, Carlo, Politano, Luisa, Nigro, Vincenzo

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MO045THE APPLICATION OF A NGS KIDNEY PANEL REVEALED KEY CHALLENGES OF PKD1-2 ANALYSIS: INTERPRETATION OF MISSENSE VARIANTS, SIGNIFICANCE OF VARIANTS IN DUPLICATED REGIONS AND HIGH... von Blasio, Giancarlo, Zacchia, Miriam, Del Vecchio Blanco, Francesca, Capolongo, Giovanna, Perna, Alessandra, Nigro, Vincenzo, Capasso, Giovambattista

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