A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene by Cihan Meral, Bariy Malbora, Fatih Celikel, Gökhan Aydemir, Selami Süleymanoğlu, Marcella Zollino, Murat Derbent

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Burkitt lymphoma as fourth neoplasia in a patient affected by Cowden Syndrome with a novel PTEN germline pathogenic variant by Eugenio Galli, Francesco D’Alò, Annarosa Cuccaro, Eleonora Alma, Elena Maiolo, Fulvia Brugnoletti, Luigi Maria Larocca, Marcella Zollino, Andrea Paolo Bacigalupo, Stefan Hohaus

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The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure by Federica Francesca L'Erario, Giuseppe Marangi, Anna Gloria Renzi, Marina Carapelle, Paolo Niccolò Doronzio, Domizia Pasquetti, Sabrina Maietta, Elena Sonnini, Annalisa Gazzellone, Marcella Zollino

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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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LETM1 couples mitochondrial DNA metabolism and nutrient preference by Romina Durigon, Alice L Mitchell, Aleck WE Jones, Andreea Manole, Mara Mennuni, Elizabeth MA Hirst, Henry Houlden, Giuseppe Maragni, Serena Lattante, Paolo Niccolo’ Doronzio, Ilaria Dalla Rosa, Marcella Zollino, Ian J Holt, Antonella Spinazzola

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