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ArticlesPeer ReviewedFull Text
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes
Author / Creator: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.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2011-11, Vol.7 (11), p.e1002334
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Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes
Author / Creator:Miceli, Martina ; Failla, Pinella ; Saccuzzo, Lucia ; Galesi, Ornella ; Amata, Silvestra ; Romano, Corrado ; Bonaglia, Maria Clara ; Fichera, Marco
Publisher:Singapore: Springer Nature Singapore
Journal title:Genes & Genomics, 2023, 45(4), , pp.491-505
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Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis
Author / Creator:Pillai-Kastoori, Lakshmi ; Wen, Wen ; Wilson, Stephen G. ; Strachan, Erin ; Lo-Castro, Adriana ; Fichera, Marco ; Musumeci, Sebastiano A. ; Lehmann, Ordan J. ; Morris, Ann C.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2014-07, Vol.10 (7), p.e1004491
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PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?
Author / Creator:Falsaperla, Raffaele ; Sapuppo, Annamaria ; Pappalardo, Xena Giada ; Rizzo, Roberta ; Rocca, Roberta ; Fusto, Gaia ; Marino, Silvia ; Sortino, Vincenzo ; Saccuzzo, Lucia ; Ruggieri, Martino ; Fichera, Marco
Publisher:Cham: Springer International Publishing
Journal title:Molecular and cellular pediatrics, 2025-04, Vol.12 (1), p.3-9, Article 3
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Discriminatory Weight of SNPs in Spike SARS-CoV-2 Variants: A Technically Rapid, Unambiguous, and Bioinformatically Validated Laboratory Approach
Author / Creator:Musso, Nicolò ; Bonacci, Paolo Giuseppe ; Bongiorno, Dafne ; Stracquadanio, Stefano ; Bivona, Dalida Angela ; Palermo, Concetta Ilenia ; Scalia, Guido ; Fichera, Marco ; Stefani, Stefania
Publisher:Switzerland: MDPI AG
Journal title:Viruses, 2022-01, Vol.14 (1), p.123
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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2016-02, Vol.61 (2), p.95-101
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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
Author / Creator:Bonaglia, Maria Clara ; Bertuzzo, Sara ; Ciaschini, Anna Maria ; Discepoli, Giancarlo ; Castiglia, Lucia ; Romaniello, Romina ; Zuffardi, Orsetta ; Fichera, Marco
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2020-06, Vol.13 (1), p.22-8, Article 22
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Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
Author / Creator:Barresi, Vincenza ; Ragusa, Angela ; Fichera, Marco ; Musso, Nicolò ; Castiglia, Lucia ; Rappazzo, Giancarlo ; Travali, Salvatore ; Mattina, Teresa ; Romano, Corrado ; Cocchi, Guido ; Condorelli, Daniele F
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2010-07, Vol.3 (1), p.28-28, Article 28
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6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies
Author / Creator:Di Benedetto, Daniela ; Di Vita, Giuseppa ; Romano, Corrado ; Lo Giudice, Mariangela ; Vitello, Girolamo Aurelio ; Zingale, Marinella ; Grillo, Lucia ; Castiglia, Lucia ; Musumeci, Sebastiano Antonino ; Fichera, Marco
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2013-01, Vol.6 (1), p.4-4
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A novel L1CAM mutation in a fetus detected by prenatal diagnosis
Author / Creator:Piccione, Maria ; Matina, Federico ; Fichera, Marco ; Lo Giudice, Mariangela ; Damiani, Gianfranca ; Jakil, Maria Cristina ; Corsello, Giovanni
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2010-04, Vol.169 (4), p.415-419
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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
Author / Creator:Calì, Francesco ; Ragalmuto, Alda ; Chiavetta, Valeria ; Calabrese, Giuseppe ; Fichera, Marco ; Vinci, Mirella ; Ruggeri, Giuseppa ; Schinocca, Pietro ; Sturnio, Maurizio ; Romano, Salvatore ; Romano, Valentino ; Elia, Maurizio
Publisher:London: Nature Publishing Group UK
Journal title:Experimental and Molecular Medicine, 2010, 42(12), , pp.842-848
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Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis
Author / Creator:Failla, Pinella ; Saccuzzo, Lucia ; Galesi, Ornella ; Greco, Donatella ; Barresi, Vincenza ; Amata, Silvestra ; Romano, Corrado ; Fichera, Marco
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-12, Vol.25 (24), p.13471
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Refining analyses of copy number variation identifies specific genes associated with developmental delay
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2014-10, Vol.46 (10), p.1063-1071
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Author / Creator:Pizzo, Lucilla ; Jensen, Matthew ; Polyak, Andrew ; Rosenfeld, Jill A. ; Mannik, Katrin ; Krishnan, Arjun ; McCready, Elizabeth ; Pichon, Olivier ; Le Caignec, Cedric ; Van Dijck, Anke ; Pope, Kate ; Voorhoeve, Els ; Yoon, Jieun ; Stankiewicz, Paweł ; Cheung, Sau Wai ; Pazuchanics, Damian ; Huber, Emily ; Kumar, Vijay ; Kember, Rachel L. ; Mari, Francesca ; Curró, Aurora ; Castiglia, Lucia ; Galesi, Ornella ; Avola, Emanuela ; Mattina, Teresa ; Fichera, Marco ; Mandarà, Luana ; Vincent, Marie ; Nizon, Mathilde ; Mercier, Sandra ; Bénéteau, Claire ; Blesson, Sophie ; Martin-Coignard, Dominique ; Mosca-Boidron, Anne-Laure ; Caberg, Jean-Hubert ; Bucan, Maja ; Zeesman, Susan ; Nowaczyk, Małgorzata J. M. ; Lefebvre, Mathilde ; Faivre, Laurence ; Callier, Patrick ; Skinner, Cindy ; Keren, Boris ; Perrine, Charles ; Prontera, Paolo ; Marle, Nathalie ; Renieri, Alessandra ; Reymond, Alexandre ; Kooy, R. Frank ; Isidor, Bertrand ; Schwartz, Charles ; Romano, Corrado ; Sistermans, Erik ; Amor, David J. ; Andrieux, Joris ; Girirajan, Santhosh
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-04, Vol.21 (4), p.816-825
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A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Author / Creator:Helsmoortel, Céline ; Vulto-van Silfhout, Anneke T ; Coe, Bradley P ; Vandeweyer, Geert ; Rooms, Liesbeth ; van den Ende, Jenneke ; Schuurs-Hoeijmakers, Janneke H M ; Marcelis, Carlo L ; Willemsen, Marjolein H ; Vissers, Lisenka E L M ; Yntema, Helger G ; Bakshi, Madhura ; Wilson, Meredith ; Witherspoon, Kali T ; Malmgren, Helena ; Nordgren, Ann ; Annerén, Göran ; Fichera, Marco ; Bosco, Paolo ; Romano, Corrado ; de Vries, Bert B A ; Kleefstra, Tjitske ; Kooy, R Frank ; Eichler, Evan E ; Van der Aa, Nathalie
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2014-04, Vol.46 (4), p.380-384
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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
Author / Creator:Cali, Francesco ; Ragalmuto, Alda ; Chiavetta, Valeria ; Calabrese, Giuseppe ; Fichera, Marco ; Vinci, Mirella ; Ruggeri, Giuseppa ; Schinocca, Pietro ; Sturnio, Maurizio ; Romano, Salvatore ; Romano, Valentino ; Elia, Maurizio
Journal title:Experimental & molecular medicine, 2010, Vol.42 (12), p.842-848
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Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting
Author / Creator:Saia, Federica ; Prato, Adriana ; Saccuzzo, Lucia ; Madia, Francesca ; Barone, Rita ; Fichera, Marco ; Rizzo, Renata
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-02, Vol.14 (2), p.500
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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
Author / Creator:van Bon, B W M ; Coe, B P ; Bernier, R ; Green, C ; Gerdts, J ; Witherspoon, K ; Kleefstra, T ; Willemsen, M H ; Kumar, R ; Bosco, P ; Fichera, M ; Li, D ; Amaral, D ; Cristofoli, F ; Peeters, H ; Haan, E ; Romano, C ; Mefford, H C ; Scheffer, I ; Gecz, J ; de Vries, B B A ; Eichler, E E
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2016-01, Vol.21 (1), p.126-132
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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Author / Creator:Girirajan, Santhosh ; Rosenfeld, Jill A ; Cooper, Gregory M ; Antonacci, Francesca ; Siswara, Priscillia ; Itsara, Andy ; Vives, Laura ; Walsh, Tom ; McCarthy, Shane E ; Baker, Carl ; Mefford, Heather C ; Kidd, Jeffrey M ; Browning, Sharon R ; Browning, Brian L ; Dickel, Diane E ; Levy, Deborah L ; Ballif, Blake C ; Platky, Kathryn ; Farber, Darren M ; Gowans, Gordon C ; Wetherbee, Jessica J ; Asamoah, Alexander ; Weaver, David D ; Mark, Paul R ; Dickerson, Jennifer ; Garg, Bhuwan P ; Ellingwood, Sara A ; Smith, Rosemarie ; Banks, Valerie C ; Smith, Wendy ; McDonald, Marie T ; Hoo, Joe J ; French, Beatrice N ; Hudson, Cindy ; Johnson, John P ; Ozmore, Jillian R ; Moeschler, John B ; Surti, Urvashi ; Escobar, Luis F ; El-Khechen, Dima ; Gorski, Jerome L ; Kussmann, Jennifer ; Salbert, Bonnie ; Lacassie, Yves ; Biser, Alisha ; McDonald-McGinn, Donna M ; Zackai, Elaine H ; Deardorff, Matthew A ; Shaikh, Tamim H ; Haan, Eric ; Friend, Kathryn L ; Fichera, Marco ; Romano, Corrado ; Gécz, Jozef ; DeLisi, Lynn E ; Sebat, Jonathan ; King, Mary-Claire ; Shaffer, Lisa G ; Eichler, Evan E
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2010-03, Vol.42 (3), p.203-209
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Author / Creator:Sharp, Andrew J ; Mefford, Heather C ; Li, Kelly ; Baker, Carl ; Skinner, Cindy ; Stevenson, Roger E ; Schroer, Richard J ; Novara, Francesca ; De Gregori, Manuela ; Ciccone, Roberto ; Broomer, Adam ; Casuga, Iris ; Wang, Yu ; Xiao, Chunlin ; Barbacioru, Catalin ; Gimelli, Giorgio ; Bernardina, Bernardo Dalla ; Torniero, Claudia ; Giorda, Roberto ; Regan, Regina ; Murday, Victoria ; Mansour, Sahar ; Fichera, Marco ; Castiglia, Lucia ; Failla, Pinella ; Ventura, Mario ; Jiang, Zhaoshi ; Cooper, Gregory M ; Knight, Samantha J L ; Romano, Corrado ; Zuffardi, Orsetta ; Chen, Caifu ; Schwartz, Charles E ; Eichler, Evan E
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-03, Vol.40 (3), p.322-328
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Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

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Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes

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Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis

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PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?

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Discriminatory Weight of SNPs in Spike SARS-CoV-2 Variants: A Technically Rapid, Unambiguous, and Bioinformatically Validated Laboratory Approach

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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

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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

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Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

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6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

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A novel L1CAM mutation in a fetus detected by prenatal diagnosis

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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

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Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis

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Refining analyses of copy number variation identifies specific genes associated with developmental delay

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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

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A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

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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

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Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

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