Relative burden of large CNVs on a range of neurodevelopmental phenotypes
Girirajan, Santhosh, Brkanac, Zoran, Coe, Bradley P, Baker, Carl, Vives, Laura, Vu, Tiffany H, Shafer, Neil, Bernier, Raphael, Ferrero, Giovanni B, Silengo, Margherita, Warren, Stephen T, Moreno, Carlos S, Fichera, Marco, Romano, Corrado, Raskind, Wendy H, Eichler, Evan E
Published in PLoS genetics (01.11.2011)
Published in PLoS genetics (01.11.2011)
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Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes
Miceli, Martina, Failla, Pinella, Saccuzzo, Lucia, Galesi, Ornella, Amata, Silvestra, Romano, Corrado, Bonaglia, Maria Clara, Fichera, Marco
Published in Genes & genomics (01.04.2023)
Published in Genes & genomics (01.04.2023)
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Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis
Pillai-Kastoori, Lakshmi, Wen, Wen, Wilson, Stephen G, Strachan, Erin, Lo-Castro, Adriana, Fichera, Marco, Musumeci, Sebastiano A, Lehmann, Ordan J, Morris, Ann C
Published in PLoS genetics (01.07.2014)
Published in PLoS genetics (01.07.2014)
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Discriminatory Weight of SNPs in Spike SARS-CoV-2 Variants: A Technically Rapid, Unambiguous, and Bioinformatically Validated Laboratory Approach
Musso, Nicolò, Bonacci, Paolo Giuseppe, Bongiorno, Dafne, Stracquadanio, Stefano, Bivona, Dalida Angela, Palermo, Concetta Ilenia, Scalia, Guido, Fichera, Marco, Stefani, Stefania
Published in Viruses (11.01.2022)
Published in Viruses (11.01.2022)
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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
Bianciardi, Laura, Fichera, Marco, Failla, Pinella, Di Marco, Chiara, Grozeva, Detelina, Mencarelli, Maria Antonietta, Spiga, Ottavia, Mari, Francesca, Meloni, Ilaria, Raymond, Lucy, Renieri, Alessandra, Romano, Corrado, Ariani, Francesca
Published in Journal of human genetics (01.02.2016)
Published in Journal of human genetics (01.02.2016)
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Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome
Bonaglia, Maria Clara, Bertuzzo, Sara, Ciaschini, Anna Maria, Discepoli, Giancarlo, Castiglia, Lucia, Romaniello, Romina, Zuffardi, Orsetta, Fichera, Marco
Published in Molecular cytogenetics (11.06.2020)
Published in Molecular cytogenetics (11.06.2020)
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Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
Barresi, Vincenza, Ragusa, Angela, Fichera, Marco, Musso, Nicolò, Castiglia, Lucia, Rappazzo, Giancarlo, Travali, Salvatore, Mattina, Teresa, Romano, Corrado, Cocchi, Guido, Condorelli, Daniele F
Published in BMC genomics (06.07.2010)
Published in BMC genomics (06.07.2010)
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6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies
Di Benedetto, Daniela, Di Vita, Giuseppa, Romano, Corrado, Giudice, Mariangela Lo, Vitello, Girolamo Aurelio, Zingale, Marinella, Grillo, Lucia, Castiglia, Lucia, Musumeci, Sebastiano Antonino, Fichera, Marco
Published in Molecular cytogenetics (17.01.2013)
Published in Molecular cytogenetics (17.01.2013)
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Identification of novel mutations in L1CAM gene by a DHPLC-based assay
Vinci, Mirella, Falco, Michele, Castiglia, Lucia, Grillo, Lucia, Spalletta, Angela, Sturnio, Maurizio, Galesi, Ornella, Salemi, Michele, Gloria, Angelo, Amata, Silvestra, Piccione, Maria, Antona, Vincenzo, Vitello, Girolamo Aurelio, Fichera, Marco
Published in Genes & genomics (01.12.2016)
Published in Genes & genomics (01.12.2016)
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Partial monosomy Xq(Xq23 → qter) and trisomy 4p(4p15.33 → pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features
Bartocci, Arnaldo, Striano, Pasquale, Mancardi, Maria Margherita, Fichera, Marco, Castiglia, Lucia, Galesi, Ornella, Michelucci, Roberto, Elia, Maurizio
Published in Brain & development (Tokyo. 1979) (01.06.2008)
Published in Brain & development (Tokyo. 1979) (01.06.2008)
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Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome
Calì, Francesco, Ragalmuto, Alda, Chiavetta, Valeria, Calabrese, Giuseppe, Fichera, Marco, Vinci, Mirella, Ruggeri, Giuseppa, Schinocca, Pietro, Sturnio, Maurizio, Romano, Salvatore, Romano, Valentino, Elia, Maurizio
Published in Experimental & molecular medicine (31.12.2010)
Published in Experimental & molecular medicine (31.12.2010)
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RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome
Micheli, Vanna, Sestini, Sylvia, Parri, Veronica, Fichera, Marco, Romano, Corrado, Ariani, Francesca, Longo, Ilaria, Mari, Francesca, Bruttini, Mirella, Renieri, Alessandra, Meloni, Ilaria
Published in Clinica chimica acta (01.09.2007)
Published in Clinica chimica acta (01.09.2007)
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Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis
Falco, Michele, Scuderi, Carmela, Musumeci, Sebastiano, Sturnio, Maurizio, Neri, Marcella, Bigoni, Stefania, Caniatti, Luisa, Fichera, Marco
Published in Neuromuscular disorders : NMD (01.11.2004)
Published in Neuromuscular disorders : NMD (01.11.2004)
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Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Bernier, Raphael, Golzio, Christelle, Xiong, Bo, Stessman, Holly A., Coe, Bradley P., Penn, Osnat, Witherspoon, Kali, Gerdts, Jennifer, Baker, Carl, Vulto-van Silfhout, Anneke T., Schuurs-Hoeijmakers, Janneke H., Fichera, Marco, Bosco, Paolo, Buono, Serafino, Alberti, Antonino, Failla, Pinella, Peeters, Hilde, Steyaert, Jean, Vissers, Lisenka E.L.M., Francescatto, Ludmila, Mefford, Heather C., Rosenfeld, Jill A., Bakken, Trygve, O’Roak, Brian J., Pawlus, Matthew, Moon, Randall, Shendure, Jay, Amaral, David G., Lein, Ed, Rankin, Julia, Romano, Corrado, de Vries, Bert B.A., Katsanis, Nicholas, Eichler, Evan E.
Published in Cell (17.07.2014)
Published in Cell (17.07.2014)
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Refining analyses of copy number variation identifies specific genes associated with developmental delay
Coe, Bradley P, Witherspoon, Kali, Rosenfeld, Jill A, van Bon, Bregje W M, Vulto-van Silfhout, Anneke T, Bosco, Paolo, Friend, Kathryn L, Baker, Carl, Buono, Serafino, Vissers, Lisenka E L M, Schuurs-Hoeijmakers, Janneke H, Hoischen, Alex, Pfundt, Rolph, Krumm, Nik, Carvill, Gemma L, Li, Deana, Amaral, David, Brown, Natasha, Lockhart, Paul J, Scheffer, Ingrid E, Alberti, Antonino, Shaw, Marie, Pettinato, Rosa, Tervo, Raymond, de Leeuw, Nicole, Reijnders, Margot R F, Torchia, Beth S, Peeters, Hilde, Thompson, Elizabeth, O'Roak, Brian J, Fichera, Marco, Hehir-Kwa, Jayne Y, Shendure, Jay, Mefford, Heather C, Haan, Eric, Gécz, Jozef, de Vries, Bert B A, Romano, Corrado, Eichler, Evan E
Published in Nature genetics (01.10.2014)
Published in Nature genetics (01.10.2014)
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PARK2 microdeletion in a multiplex family with autism spectrum disorder
Barone, Rita, Cirnigliaro, Lara, Saccuzzo, Lucia, Valdese, Silvia, Pettinato, Fabio, Prato, Adriana, Bernardini, Laura, Fichera, Marco, Rizzo, Renata
Published in International journal of developmental neuroscience (01.02.2023)
Published in International journal of developmental neuroscience (01.02.2023)
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Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion
Bonaglia, Maria Clara, Fichera, Marco, Marelli, Susan, Romaniello, Romina, Zuffardi, Orsetta
Published in European journal of medical genetics (01.11.2022)
Published in European journal of medical genetics (01.11.2022)
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