Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion

por Tassano, Elisa, Accogli, Andrea, Panigada, Serena, Ronchetto, Patrizia, Cuoco, Cristina, Gimelli, Giorgio
Publicado 2014

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations

por Severino, Mariasavina, Accogli, Andrea, Gimelli, Giorgio, Rossi, Andrea, Kotzeva, Svetlana, Di Rocco, Maja, Ronchetto, Patrizia, Cuoco, Cristina, Tassano, Elisa
Publicado en Mol Cytogenet (2015)

Role of IL-1 Beta in the Development of Human T(H)17 Cells: Lesson from NLPR3 Mutated Patients

por Lasigliè, Denise, Traggiai, Elisabetta, Federici, Silvia, Alessio, Maria, Buoncompagni, Antonella, Accogli, Andrea, Chiesa, Sabrina, Penco, Federica, Martini, Alberto, Gattorno, Marco
Publicado 2011

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development

por Merello, Elisa, Tattini, Lorenzo, Magi, Alberto, Accogli, Andrea, Piatelli, Gianluca, Pavanello, Marco, Tortora, Domenico, Cama, Armando, Kibar, Zoha, Capra, Valeria, De Marco, Patrizia
Publicado en Eur J Hum Genet (2017)

Long-term follow-up of systemic onset juvenile idiopathic arthritis patients treated with Anakinra

por Gattorno, Marco, Naselli, Aldo, Accogli, Andrea, Chiesa, Sabrina, Caorsi, Roberta, Tebaldi, Jessica, Buoncompagni, Antonella, Ruperto, Nicola, Viola, Stefania, Picco, Paolo, Ravelli, Angelo, Martini, Alberto
Publicado 2011

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

por Accogli, Andrea, Iacomino, Michele, Pinto, Francesca, Orsini, Alessandro, Vari, Maria Stella, Selmi, Raed, Torella, Annalaura, Nigro, Vincenzo, Minetti, Carlo, Severino, Mariasavina, Striano, Pasquale, Capra, Valeria, Zara, Federico
Publicado en Neurol Genet (2017)

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

por Scala, Marcello, Torella, Annalaura, Severino, Mariasavina, Morana, Giovanni, Castello, Raffaele, Accogli, Andrea, Verrico, Antonio, Vari, Maria Stella, Cappuccio, Gerarda, Pinelli, Michele, Vitiello, Giuseppina, Terrone, Gaetano, D’Amico, Alessandra, Nigro, Vincenzo, Capra, Valeria
Publicado en Eur J Hum Genet (2019)

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

por Imperatore, Valentina, Pinto, Anna Maria, Gelli, Elisa, Trevisson, Eva, Morbidoni, Valeria, Frullanti, Elisa, Hadjistilianou, Theodora, De Francesco, Sonia, Toti, Paolo, Gusson, Elena, Roversi, Gaia, Accogli, Andrea, Capra, Valeria, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Publicado en Eur J Hum Genet (2018)

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel

por Imbrici, Paola, Accogli, Andrea, Blunck, Rikard, Altamura, Concetta, Iacomino, Michele, D’Adamo, Maria Cristina, Allegri, Anna, Pedemonte, Marina, Brolatti, Noemi, Vari, Stella, Cataldi, Matteo, Capra, Valeria, Gustincich, Stefano, Zara, Federico, Desaphy, Jean-Francois, Fiorillo, Chiara
Publicado en Biomedicines (2021)

Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum

por Riva, Antonella, Gambadauro, Antonella, Dipasquale, Valeria, Casto, Celeste, Ceravolo, Maria Domenica, Accogli, Andrea, Scala, Marcello, Ceravolo, Giorgia, Iacomino, Michele, Zara, Federico, Striano, Pasquale, Cuppari, Caterina, Di Rosa, Gabriella, Cutrupi, Maria Concetta, Salpietro, Vincenzo, Chimenz, Roberto
Publicado en Int J Mol Sci (2021)

Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development

por Iacomino, Michele, Baldassari, Simona, Tochigi, Yuki, Kośla, Katarzyna, Buffelli, Francesca, Torella, Annalaura, Severino, Mariasavina, Paladini, Dario, Mandarà, Luana, Riva, Antonella, Scala, Marcello, Balagura, Ganna, Accogli, Andrea, Nigro, Vincenzo, Minetti, Carlo, Fulcheri, Ezio, Zara, Federico, Bednarek, Andrzej K., Striano, Pasquale, Suzuki, Hiroetsu, Salpietro, Vincenzo
Publicado en Front Neurosci (2020)

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

por Scala, Marcello, Schiavetti, Irene, Madia, Francesca, Chelleri, Cristina, Piccolo, Gianluca, Accogli, Andrea, Riva, Antonella, Salpietro, Vincenzo, Bocciardi, Renata, Morcaldi, Guido, Di Duca, Marco, Caroli, Francesco, Verrico, Antonio, Milanaccio, Claudia, Viglizzo, Gianmaria, Traverso, Monica, Baldassari, Simona, Scudieri, Paolo, Iacomino, Michele, Piatelli, Gianluca, Minetti, Carlo, Striano, Pasquale, Garrè, Maria Luisa, De Marco, Patrizia, Diana, Maria Cristina, Capra, Valeria, Pavanello, Marco, Zara, Federico
Publicado en Cancers (Basel) (2021)

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

por Friedman, Jennifer, Smith, Desiree E., Issa, Mahmoud Y., Stanley, Valentina, Wang, Rengang, Mendes, Marisa I., Wright, Meredith S., Wigby, Kristen, Hildreth, Amber, Crawford, John R., Koehler, Alanna E., Chowdhury, Shimul, Nahas, Shareef, Zhai, Liting, Xu, Zhiwen, Lo, Wing-Sze, James, Kiely N., Musaev, Damir, Accogli, Andrea, Guerrero, Kether, Tran, Luan T., Omar, Tarek E. I., Ben-Omran, Tawfeg, Dimmock, David, Kingsmore, Stephen F., Salomons, Gajja S., Zaki, Maha S., Bernard, Geneviève, Gleeson, Joseph G.
Publicado en Nat Commun (2019)

Pathogenic Variants in RNPC3 are Associated with Hypopituitarism and Primary Ovarian Insufficiency

por Akin, Leyla, Rizzoti, Karine, Gregory, Louise C, Corredor, Beatriz, Le Quesne Stabej, Polona, Williams, Hywel, Buonocore, Federica, Mouilleron, Stephane, Capra, Valeria, McGlacken-Byrne, Sinead M, Martos-Moreno, Gabriel Á, Azmanov, Dimitar N., Kendirci, Mustafa, Kurtoglu, Selim, Suntharalingham, Jenifer P., Galichet, Christophe, Gustincich, Stefano, Tasic, Velibor, Achermann, John C., Accogli, Andrea, Filipovska, Aleksandra, Tuilpakov, Anatoly, Maghnie, Mohamad, Gucev, Zoran, Gonen, Z. Burcin, Pérez-Jurado, Luis A, Robinson, Iain, Badge, Robin Lovell, Argente, Jesús, Dattani, Mehul T
Publicado en Genet Med (2022)

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

por Accogli, Andrea, Calabretta, Sara, St-Onge, Judith, Boudrahem-Addour, Nassima, Dionne-Laporte, Alexandre, Joset, Pascal, Azzarello-Burri, Silvia, Rauch, Anita, Krier, Joel, Fieg, Elizabeth, Pallais, Juan C., McConkie-Rosell, Allyn, McDonald, Marie, Freedman, Sharon F., Rivière, Jean-Baptiste, Lafond-Lapalme, Joël, Simpson, Brittany N., Hopkin, Robert J., Trimouille, Aurélien, Van-Gils, Julien, Begtrup, Amber, McWalter, Kirsty, Delphine, Heron, Keren, Boris, Genevieve, David, Argilli, Emanuela, Sherr, Elliott H., Severino, Mariasavina, Rouleau, Guy A., Yam, Patricia T., Charron, Frédéric, Srour, Myriam
Publicado en Am J Hum Genet (2019)

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

por Carvill, Gemma L., Helbig, Katherine L., Myers, Candace T., Scala, Marcello, Huether, Robert, Lewis, Sara, Kruer, Tyler N., Guida, Brandon S., Bakhtiari, Somayeh, Sebe, Joy, Tang, Sha, Stickney, Heather, Oktay, Sehribani Ulusoy, Bhandiwad, Ashwin A., Ramsey, Keri, Narayanan, Vinodh, Feyma, Timothy, Rohena, Luis O., Accogli, Andrea, Severino, Mariasavina, Hollingsworth, Georgina, Gill, Deepak, Depienne, Christel, Nava, Caroline, Sadleir, Lynette G, Caruso, Paul A., Lin, Angela E., Jansen, Floor E., Koeleman, Bobby, Brilstra, Eva, Willemsen, Marjolein H., Kleefstra, Tjitske, Sa, Joaquim, Mathieu, Marie-Laure, Perrin, Laurine, Lesca, Gaetan, Striano, Pasquale, Casari, Giorgio, Scheffer, Ingrid E., Raible, David, Sattlegger, Evelyn, Capra, Valeria, Padilla-Lopez, Sergio, Mefford, Heather C., Kruer, Michael C.
Publicado en Hum Mutat (2020)

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

por Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Bernardina, Bernardo Dalla, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, GiovannaStefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, d'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexis, Veggiotti, Pierangelo
Publicado en Neurology (2021)

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

por Muir, Alison M., Gardner, Jennifer F., van Jaarsveld, Richard H., de Lange, Iris M., van der Smagt, Jasper J., Wilson, Golder N., Dubbs, Holly, Goldberg, Ethan M., Zitano, Lia, Bupp, Caleb, Martinez, Jose, Srour, Myriam, Accogli, Andrea, Alhakeem, Afnan, Meltzer, Meira, Gropman, Andrea, Brewer, Carole, Caswell, Richard C., Montgomery, Tara, McKenna, Caoimhe, McKee, Shane, Powell, Corinna, Vasudevan, Pradeep C., Brady, Angela F., Joss, Shelagh, Tysoe, Carolyn, Noh, Grace, Tarnopolsky, Mark, Brady, Lauren, Zafar, Muhammad, Schrier Vergano, Samantha A., Murray, Brianna, Sawyer, Lindsey, Hainline, Bryan E., Sapp, Katherine, DeMarzo, Danielle, Huismann, Darcy J., Wentzensen, Ingrid M., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rhodes, Lindsay, Dobyns, William B., Lecoquierre, Francois, Goldenberg, Alice, Polster, Tilman, Axer-Schaefer, Susanne, Platzer, Konrad, Klöckner, Chiara, Hoffman, Trevor L., MacArthur, Daniel G., O’Leary, Melanie C., VanNoy, Grace E., England, Eleina, Varghese, Vinod C., Mefford, Heather C.
Publicado en Genet Med (2021)

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

por O’Donnell-Luria, Anne H., Pais, Lynn S., Faundes, Víctor, Wood, Jordan C., Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A., Bianchini, Claudia, Bird, Lynne M., Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Demurger, Florence, Dowling, James J., Duban-Bedu, Benedicte, Dubourg, Christèle, Eiset, Saga Elise, Escobar, Luis F., Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Heide, Solveig, Helbig, Katherine L., Helbig, Ingo, Heredia, Raul, Héron, Delphine, Isidor, Bertrand, Jonasson, Amy R., Joset, Pascal, Keren, Boris, Kok, Fernando, Kroes, Hester Y., Lavillaureix, Alinoë, Lu, Xin, Maas, Saskia M., Maegawa, Gustavo H.B., Marcelis, Carlo L.M., Mark, Paul R., Masruha, Marcelo R., McLaughlin, Heather M., McWalter, Kirsty, Melchinger, Esther U., Mercimek-Andrews, Saadet, Nava, Caroline, Pendziwiat, Manuela, Person, Richard, Ramelli, Gian Paolo, Ramos, Luiza L.P., Rauch, Anita, Reavey, Caitlin, Renieri, Alessandra, Rieß, Angelika, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Schwarz, Niklas, Smol, Thomas, Srour, Myriam, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Telegrafi, Aida, Thiffault, Isabelle, Trauner, Doris A., van der Linden, Helio, van Koningsbruggen, Silvana, Villard, Laurent, Vogel, Ida, Vogt, Julie, Weber, Yvonne G., Wentzensen, Ingrid M., Widjaja, Elysa, Zak, Jaroslav, Baxter, Samantha, Banka, Siddharth, Rodan, Lance H.
Publicado en Am J Hum Genet (2019)