Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment by Lidia Larizza, Maria Vittoria Cubellis

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Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons by Lidia Larizza, Luciano Calzari, Valentina Alari, Silvia Russo

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Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein–Taybi Intellectual Disability Syndromes by Lidia Larizza, Valentina Alari, Luciano Calzari, Silvia Russo

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Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS by Maura Masciadri, Anna Ficcadenti, Donatella Milani, Francesca Cogliati, Maria Teresa Divizia, Lidia Larizza, Silvia Russo

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Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome by Ilaria Catusi, Maria Teresa Bonati, Ester Mainini, Silvia Russo, Eleonora Orlandini, Lidia Larizza, Maria Paola Recalcati

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Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum by Alessandro Vimercati, Pierpaola Tannorella, Eleonora Orlandini, Luciano Calzari, Mirella Moro, Sara Guzzetti, Angelo Selicorni, Milena Crippa, Lidia Larizza, Maria Teresa Bonati, Silvia Russo

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A familial t(4;8) translocation segregates with epilepsy and migraine with aura by Milena Crippa, Paola Malatesta, Maria Teresa Bonati, Francesco Trapasso, Francesco Fortunato, Grazia Annesi, Lidia Larizza, Angelo Labate, Palma Finelli, Nicola Perrotti, Antonio Gambardella

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Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome by Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Sara Ballabio, Ferruccio Ceriotti, Luigi Memo, Maria Iascone, Lidia Larizza, Palma Finelli, Palma Finelli

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Germline <i>NUP98</i> Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling by Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D’Ursi, Lidia Larizza

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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations by Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza

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Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)... by Valentina Alari, Silvia Russo, Davide Rovina, Aoife Gowran, Maria Garzo, Milena Crippa, Laura Mazzanti, Claudia Scalera, Ennio Prosperi, Daniela Giardino, Cristina Gervasini, Palma Finelli, Giulio Pompilio, Lidia Larizza

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Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants by Sara Perego, Valentina Alari, Gianluca Pietra, Andrea Lamperti, Alessandro Vimercati, Nicole Camporeale, Maria Garzo, Francesca Cogliati, Donatella Milani, Aglaia Vignoli, Angela Peron, Lidia Larizza, Tommaso Pizzorusso, Silvia Russo

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Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients by Valentina Alari, Paolo Scalmani, Paola Francesca Ajmone, Sara Perego, Sabrina Avignone, Ilaria Catusi, Paola Adele Lonati, Maria Orietta Borghi, Palma Finelli, Benedetta Terragni, Massimo Mantegazza, Silvia Russo, Lidia Larizza

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SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome by Milena Crippa, Milena Crippa, Ilaria Bestetti, Ilaria Bestetti, Silvia Maitz, Karin Weiss, Alice Spano, Maura Masciadri, Sarah Smithson, Lidia Larizza, Karen Low, Lior Cohen, Lior Cohen, Palma Finelli, Palma Finelli

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Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases by Pierpaola Tannorella, Daniele Minervino, Sara Guzzetti, Alessandro Vimercati, Luciano Calzari, Giuseppa Patti, Mohamad Maghnie, Anna Elsa Maria Allegri, Donatella Milani, Giulietta Scuvera, Milena Mariani, Piergiorgio Modena, Angelo Selicorni, Lidia Larizza, Silvia Russo

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8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature by Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati

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Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features by Valentina Cirello, Valentina Giorgini, Chiara Castronovo, Susan Marelli, Ester Mainini, Alessandra Sironi, Alessandra Sironi, Maria Paola Recalcati, Marco Pessina, Daniela Giardino, Lidia Larizza, Luca Persani, Luca Persani, Palma Finelli, Palma Finelli, Silvia Russo, Laura Fugazzola, Laura Fugazzola

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Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes by Milena Crippa, Milena Crippa, Maria Teresa Bonati, Luciano Calzari, Chiara Picinelli, Cristina Gervasini, Alessandra Sironi, Alessandra Sironi, Ilaria Bestetti, Ilaria Bestetti, Sara Guzzetti, Simonetta Bellone, Angelo Selicorni, Alessandro Mussa, Andrea Riccio, Andrea Riccio, Giovanni Battista Ferrero, Silvia Russo, Lidia Larizza, Palma Finelli, Palma Finelli

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12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature by Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Serena Redaelli, Marta Massimello, Silvia Beatrice Maitz, Mattia Gentile, Emanuela Ponzi, Paola Orsini, Anna Zilio, Annamaria Montaldi, Annapaola Calò, Anna Paola Capra, Silvana Briuglia, Maria Angela La Rosa, Lucia Grillo, Corrado Romano, Sebastiano Bianca, Michela Malacarne, Martina Busè, Maria Piccione, Lidia Larizza

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Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms by Wigard P. Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J. van Roosmalen, Ellen van Binsbergen, Ivo Renkens, Karen Duran, Lucia Ballarati, Sarah Vergult, Daniela Giardino, Kerstin Hansson, Claudia A.L. Ruivenkamp, Myrthe Jager, Arie van Haeringen, Elly F. Ippel, Thomas Haaf, Eberhard Passarge, Ron Hochstenbach, Björn Menten, Lidia Larizza, Victor Guryev, Martin Poot, Edwin Cuppen

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