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Francesca Novara

microgenomics srl
H指数:37
被引数:5,497

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SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder

SETBP1变异体位于降解基序之外，会破坏DNA结合、转录以及神经元分化能力，从而引发一种异质性神经发育障碍。

Nature Communications
IF15.7
2025-10-100
OAAI
Maggie M. K. Wong; Rosalie A. Kampen; Ruth O. Braden; Gökberk Alagöz; Michael S. Hildebrand; Alexander J. M. Dingemans; Jean Corbally; Joery den Hoed; Ezequiel Mendoza; Willemijn J. J. Claassen; Christopher Barnett; Meghan Barnett; Alfredo Brusco; Diana Carli; Bert B. A. de Vries; Frances Elmslie; Giovanni Battista Ferrero; Nadieh A. Jansen; Ingrid M. B. H. van de Laar; Alice Moroni; David Mowat; Lucinda Murray; Francesca Novara; Angela Peron; Ingrid E. Scheffer; Fabio Sirchia; Samantha J. Turner; Aglaia Vignoli; Arianna Vino; Sacha Weber; Wendy K. Chung; Marion Gerard; Vanesa López-González; Elizabeth Palmer; Angela T. Morgan; Bregje W. van Bon; Simon E. Fisher
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3 (vol 14, 1475, 2023)

对Lbx1/Fgf8基因座基因表达的组合效应解决了3型分裂手/脚畸形 (第14卷，1475，2023)

NATURE COMMUNICATIONS
IF15.7
2023-05-180
OAAI
Cova, Giulia; Glaser, Juliane; Schoepflin, Robert; Prada-Medina, Cesar Augusto; Ali, Salaheddine; Franke, Martin; Falcone, Rita; Federer, Miriam; Ponzi, Emanuela; Ficarella, Romina; Novara, Francesca; Wittler, Lars; Timmermann, Bernd; Gentile, Mattia; Zuffardi, Orsetta; Spielmann, Malte; Mundlos, Stefan
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder
NEUROLOGY-GENETICS
IF3.7
2021-02-0120
OAAI
Bain, Jennifer M.; Thornburg, Olivia; Pan, Cheryl; Rome-Martin, Donnielle; Boyle, Lia; Fan, Xiao; Devinsky, Orrin; Frye, Richard; Hamp, Silke; Keator, Cynthia G.; LaMarca, Nicole M.; Maddocks, Alexis B. R.; Madruga-Garrido, Marcos; Niederhoffer, Karen Y.; Novara, Francesca; Peron, Angela; Poole-Di Salvo, Elizabeth; Salazar, Rachel; Skinner, Steven A.; Soares, Gabriela; Goldman, Sylvie; Chung, Wendy K.
De novo unbalanced translocations have a complex history/aetiology
HUMAN GENETICS
IF3.6
2018-10-0120
OAAI
Bonaglia, Maria Clara; Kurtas, Nehir Edibe; Errichiello, Edoardo; Bertuzzo, Sara; Beri, Silvana; Mehrjouy, Mana M.; Provenzano, Aldesia; Vergani, Debora; Pecile, Vanna; Novara, Francesca; Reho, Paolo; Di Giacomo, Marilena Carmela; Discepoli, Giancarlo; Giorda, Roberto; Aldred, Micheala A.; Santos-Reboucas, Cintia Barros; Goncalves, Andressa Pereira; Abuelo, Diane N.; Giglio, Sabrina; Ricca, Ivana; Franchi, Fabrizia; Patsalis, Philippos; Sismani, Carolina; Angeles Mori, Maria; Nevado, Julian; Tommerup, Niels; Zuffardi, Orsetta
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2017-04-1937
OAAI
Novara, Francesca; Rinaldi, Berardo; Sisodiya, Sanjay M.; Coppola, Antonietta; Giglio, Sabrina; Stanzial, Franco; Benedicenti, Francesco; Donaldson, Alan; Andrieux, Joris; Stapleton, Rachel; Weber, Astrid; Reho, Paolo; van Ravenswaaij-Arts, Conny; Kerstjens-Frederikse, Wilhelmina S.; Vermeesch, Joris Robert; Devriendt, Koenraad; Bacino, Carlos A.; Delahaye, Andree; Maas, S. M.; Iolascon, Achille; Zuffardi, Orsetta
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
GENETICS IN MEDICINE
IF6.2
2015-06-0144
OAAI
De Rocker, Nina; Vergult, Sarah; Koolen, David; Jacobs, Eva; Hoischen, Alexander; Zeesman, Susan; Bang, Birgitte; Bena, Frederique; Bockaert, Nele; Bongers, Ernie M.; de Ravel, Thomy; Devriendt, Koenraad; Giglio, Sabrina; Faivre, Laurence; Joss, Shelagh; Maas, Saskia; Marle, Nathalie; Novara, Francesca; Nowaczyk, Malgorzata J. M.; Peeters, Hilde; Polstra, Abeltje; Roelens, Filip; Rosenberg, Carla; Thevenon, Julien; Tuemer, Zeynep; Vanhauwaert, Suzanne; Varvagiannis, Konstantinos; Willaert, Andy; Willemsen, Marjolein; Willems, Marjolaine; Zuffardi, Orsetta; Coucke, Paul; Speleman, Frank; Eichler, Evan E.; Kleefstra, Tjitske; Menten, Bjoern
Functional and genetic aberrations of in vitro-cultured marrow-derived mesenchymal stromal cells of patients with classical Philadelphia-negative myeloproliferative neoplasms
LEUKEMIA
IF13.4
2014-03-1229
PREAI
Avanzini, M. A.; Bernardo, M. E.; Novara, F.; Mantelli, M.; Poletto, V.; Villani, L.; Lenta, E.; Ingo, D. M.; Achille, V.; Bonetti, E.; Massa, M.; Campanelli, R.; Fois, G.; Catarsi, P.; Gale, R. P.; Moretta, A.; Aronica, A.; Maccario, R.; Acquafredda, G.; Lisini, D.; Zecca, M.; Zuffardi, O.; Locatelli, F.; Barosi, G.; Rosti, V.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
HUMAN MOLECULAR GENETICS
IF3.2
2013-12-30131
OA
Lionel, Anath C.; Tammimies, Kristiina; Vaags, Andrea K.; Rosenfeld, Jill A.; Ahn, Joo Wook; Merico, Daniele; Noor, Abdul; Runke, Cassandra K.; Pillalamarri, Vamsee K.; Carter, Melissa T.; Gazzellone, Matthew J.; Thiruvahindrapuram, Bhooma; Fagerberg, Christina; Laulund, Lone W.; Pellecchia, Giovanna; Lamoureux, Sylvia; Deshpande, Charu; Clayton-Smith, Jill; White, Ann C.; Leather, Susan; Trounce, John; Bedford, H. Melanie; Hatchwell, Eli; Eis, Peggy S.; Yuen, Ryan K. C.; Walker, Susan; Uddin, Mohammed; Geraghty, Michael T.; Nikkel, Sarah M.; Tomiak, Eva M.; Fernandez, Bridget A.; Soreni, Noam; Crosbie, Jennifer; Arnold, Paul D.; Schachar, Russell J.; Roberts, Wendy; Paterson, Andrew D.; So, Joyce; Szatmari, Peter; Chrysler, Christina; Woodbury-Smith, Marc; Lowry, R. Brian; Zwaigenbaum, Lonnie; Mandyam, Divya; Wei, John; MacDonald, Jeffrey R.; Howe, Jennifer L.; Nalpathamkalam, Thomas; Wang, Zhuozhi; Tolson, Daniel; Cobb, David S.; Wilks, Timothy M.; Sorensen, Mark J.; Bader, Patricia I.; An, Yu; Wu, Bai-Lin; Musumeci, Sebastiano Antonino; Romano, Corrado; Postorivo, Diana; Nardone, Anna M.; Della Monica, Matteo; Scarano, Gioacchino; Zoccante, Leonardo; Novara, Francesca; Zuffardi, Orsetta; Ciccone, Roberto; Antona, Vincenzo; Carella, Massimo; Zelante, Leopoldo; Cavalli, Pietro; Poggiani, Carlo; Cavallari, Ugo; Argiropoulos, Bob; Chernos, Judy; Brasch-Andersen, Charlotte; Speevak, Marsha; Fichera, Marco; Ogilvie, Caroline Mackie; Shen, Yiping; Hodge, Jennelle C.; Talkowski, Michael E.; Stavropoulos, Dimitri J.; Marshall, Christian R.; Scherer, Stephen W.
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach
CYTOTHERAPY
IF3.2
2013-11-0123
PREAI
Borghesi, Alessandro; Avanzini, Maria Antonietta; Novara, Francesca; Mantelli, Melissa; Lenta, Elisa; Achille, Valentina; Cerbo, Rosa Maria; Tzialla, Chryssoula; Longo, Stefania; De Silvestri, Annalisa; Zimmermann, Luc J. I.; Manzoni, Paolo; Zecca, Marco; Spinillo, Arsenio; Maccario, Rita; Zuffardi, Orsetta; Stronati, Mauro
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene
BRAIN
IF11.7
2013-09-2071
PREAI
Conti, Valerio; Carabalona, Aurelie; Pallesi-Pocachard, Emilie; Parrini, Elena; Leventer, Richard J.; Buhler, Emmanuelle; McGillivray, George; Michel, Francois J.; Striano, Pasquale; Mei, Davide; Watrin, Francoise; Lise, Stefano; Pagnamenta, Alistair T.; Taylor, Jenny C.; Kini, Usha; Clayton-Smith, Jill; Novara, Francesca; Zuffardi, Orsetta; Dobyns, William B.; Scheffer, Ingrid E.; Robertson, Stephen P.; Berkovic, Samuel F.; Represa, Alfonso; Keays, David A.; Cardoso, Carlos; Guerrini, Renzo
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
PLOS GENETICS
IF3.7
2011-07-14177
OAAI
Bonaglia, Maria Clara; Giorda, Roberto; Beri, Silvana; De Agostini, Cristina; Novara, Francesca; Fichera, Marco; Grillo, Lucia; Galesi, Ornella; Vetro, Annalisa; Ciccone, Roberto; Bonati, Maria Teresa; Giglio, Sabrina; Guerrini, Renzo; Osimani, Sara; Marelli, Susan; Zucca, Claudio; Grasso, Rita; Borgatti, Renato; Mani, Elisa; Motta, Cristina; Molteni, Massimo; Romano, Corrado; Greco, Donatella; Reitano, Santina; Baroncini, Anna; Lapi, Elisabetta; Cecconi, Antonella; Arrigo, Giulia; Patricelli, Maria Grazia; Pantaleoni, Chiara; D'Arrigo, Stefano; Riva, Daria; Sciacca, Francesca; Dalla Bernardina, Bernardo; Zoccante, Leonardo; Darra, Francesca; Termine, Cristiano; Maserati, Emanuela; Bigoni, Stefania; Priolo, Emanuela; Bottani, Armand; Gimelli, Stefania; Bena, Frederique; Brusco, Alfredo; di Gregorio, Eleonora; Bagnasco, Irene; Giussani, Ursula; Nitsch, Lucio; Politi, Pierluigi; Luisa Martinez-Frias, Maria; Luisa Martinez-Fernandez, Maria; Martinez Guardia, Nieves; Bremer, Anna; Anderlid, Britt-Marie; Zuffardi, Orsetta

研究方向

暂未获取到该数据
O
Orsetta Zuffardi
H 指数:80论文数:803被引数:2.3万
C
Corrado Romano
H 指数:60论文数:416被引数:1.8万
M
María Clara Bonaglia
H 指数:37论文数:103被引数:4,549
B
Bernardo Dalla Bernardina
H 指数:23论文数:66被引数:2,560
R
Renzo Guerrini
H 指数:116论文数:2,097被引数:5.3万
M
Marco Fichera
H 指数:39论文数:148被引数:9,961
R
Roberto Giorda
H 指数:53论文数:430被引数:9,423
R
Roberto Ciccone
H 指数:36论文数:268被引数:4,560
M
Maria Ester Bernardo
H 指数:52论文数:227被引数:1.4万
R
Rita Maccario
H 指数:51论文数:259被引数:1.0万