20092020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
2020

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate

Catusi, I., Recalcati, M. P., Bestetti, I., Garzo, M., Valtorta, C., Alfonsi, M., Alghisi, A., Cappellani, S., Casalone, R., Caselli, R., Ceccarini, C., Ceglia, C., Ciaschini, A. M., Coviello, D., Crosti, F., D'Aprile, A., Fabretto, A., Genesio, R., Giagnacovo, M., Granata, P. & 20 others, Longo, I., Malacarne, M., Marseglia, G., Montaldi, A., Nardone, A. M., Palka, C., Pecile, V., Pessina, C., Postorivo, D., Redaelli, S., Renieri, A., Rigon, C., Tiberi, F., Tonelli, M., Villa, N., Zilio, A., Zuccarello, D., Novelli, A., Larizza, L. & Giardino, D., Jan 1 2020, In : Molecular Genetics and Genomic Medicine. 8, 1, e1056.

Research output: Contribution to journalArticle

Open Access
2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SKABAR ALDO, 2019, In : Nature Communications. 10, 1

Research output: Contribution to journalArticle

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate

Catusi, I., Recalcati, M. P., Bestetti, I., Garzo, M., Valtorta, C., Alfonsi, M., Alghisi, A., Cappellani, S., Casalone, R., Caselli, R., Ceccarini, C., Ceglia, C., Ciaschini, A. M., Coviello, D., Crosti, F., D'Aprile, A., Fabretto, A., Genesio, R., Giagnacovo, M., Granata, P. & 20 others, Longo, I., Malacarne, M., Marseglia, G., Montaldi, A., Nardone, A. M., Palka, C., Pecile, V., Pessina, C., Postorivo, D., Redaelli, S., Renieri, A., Rigon, C., Tiberi, F., Tonelli, M., Villa, N., Zilio, A., Zuccarello, D., Novelli, A., Larizza, L. & Giardino, D., 2019, In : Molecular genetics & genomic medicine. 8, 1

Research output: Contribution to journalArticle

2018

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

Trimouille, A., Houcinat, N., Vuillaume, M. L., Fergelot, P., Fergelot, P., Boucher, C., Toutain, J., Caignec, C. L., Vincent, M., Nizon, M., Andrieux, J., Vanlerberghe, C., Delobel, B., Duban, B., Mansour, S., Baple, E., McKeown, C., Poke, G., Robertshaw, K., Fifield, E. & 12 others, Fabretto, A., Pecile, V., Gasparini, P., Gasparini, P., Carrozzi, M., Lacombe, D., Lacombe, D., Arveiler, B., Arveiler, B., Rooryck, C., Rooryck, C. & Moutton, S., Jan 1 2018, In : European Journal of Human Genetics. 26, 1, p. 85-93 9 p.

Research output: Contribution to journalArticle

A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome

Mazzon, G., Menichelli, A., Fabretto, A., Cattaruzza, T. & Manganotti, P., May 4 2018, In : Neurocase. 24, 3, p. 140-144 5 p.

Research output: Contribution to journalArticle

2015

CTNND2 deletion and intellectual disability

Belcaro, C., Dipresa, S., Morini, G., Pecile, V., Skabar, A. & Fabretto, A., Jul 1 2015, In : Gene. 565, 1, p. 146-149 4 p.

Research output: Contribution to journalArticle

2014

Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

Athanasakis, E., Licastro, D., Faletra, F., Fabretto, A., Dipresa, S., Vozzi, D., Morgan, A., D'Adamo, A. P., Pecile, V., Biarnés, X. & Gasparini, P., Jan 2014, In : American Journal of Medical Genetics, Part A. 164, 1, p. 170-176 7 p.

Research output: Contribution to journalArticle

Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling

Naviglio, S., Arrigo, S., Martelossi, S., Villanacci, V., Tommasini, A., Loganes, C., Fabretto, A., Vignola, S., Lonardi, S. & Ventura, A., Aug 1 2014, In : Journal of Crohn's & colitis. 8, 8, p. 770-774 5 p.

Research output: Contribution to journalArticle

2013

Alagille syndrome: A new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA

Vozzi, D., Licastro, D., Martelossi, S., Athanasakis, E., Gasparini, P. & Fabretto, A., Apr 2013, In : Molecular Syndromology. 4, 4, p. 207-210 4 p.

Research output: Contribution to journalArticle

2012

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12

Rocca, M. S., Fabretto, A., Faletra, F., Carlet, O., Skabar, A., Gasparini, P. & Pecile, V., Jan 15 2012, In : Gene. 492, 1, p. 315-318 4 p.

Research output: Contribution to journalArticle

De novo 6.9Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

Fabretto, A., Rocca, M. S., Perrone, M. D., Skabar, A., Pecile, V. & Gasparini, P., Apr 2012, In : American Journal of Medical Genetics, Part A. 158 A, 4, p. 882-887 6 p.

Research output: Contribution to journalArticle

Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

Licastro, D., Mutarelli, M., Peluso, I., Neveling, K., Wieskamp, N., Rispoli, R., Vozzi, D., Athanasakis, E., D'Eustacchio, A., Pizzo, M., D'Amico, F., Ziviello, C., Simonelli, F., Fabretto, A., Scheffer, H., Gasparini, P., Banfi, S. & Nigro, V., Aug 29 2012, In : PLoS One. 7, 8, e43799.

Research output: Contribution to journalArticle

Two novel COH1 mutations in an Italian patient with Cohen syndrome

Athanasakis, E., Fabretto, A., Faletra, F., Mocenigo, M., Morgan, A. & Gasparini, P., Jun 2012, In : Molecular Syndromology. 3, 1, p. 30-33 4 p.

Research output: Contribution to journalArticle

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Wain, L. V., Verwoert, G. C., O'Reilly, P. F., Shi, G., Johnson, T., Johnson, A. D., Bochud, M., Rice, K. M., Henneman, P., Smith, A. V., Ehret, G. B., Amin, N., Larson, M. G., Mooser, V., Hadley, D., Dörr, M., Bis, J. C., Aspelund, T., Esko, T., Janssens, A. C. J. W. & 204 others, Zhao, J. H., Heath, S., Laan, M., Fu, J., Pistis, G., Luan, JA., Arora, P., Lucas, G., Pirastu, N., Pichler, I., Jackson, A. U., Webster, R. J., Zhang, F., Peden, J. F., Schmidt, H., Tanaka, T., Campbell, H., Igl, W., Milaneschi, Y., Hottenga, J. J., Vitart, V., Chasman, D. I., Trompet, S., Bragg-Gresham, J. L., Alizadeh, B. Z., Chambers, J. C., Guo, X., Lehtimäki, T., Kühnel, B., Lopez, L. M., Polašek, O., Boban, M., Nelson, C. P., Morrison, A. C., Pihur, V., Ganesh, S. K., Hofman, A., Kundu, S., Mattace-Raso, F. U. S., Rivadeneira, F., Sijbrands, E. J. G., Uitterlinden, A. G., Hwang, S. J., Vasan, R. S., Wang, T. J., Bergmann, S., Vollenweider, P., Waeber, G., Laitinen, J., Pouta, A., Zitting, P., McArdle, W. L., Kroemer, H. K., Völker, U., Völzke, H., Glazer, N. L., Taylor, K. D., Harris, T. B., Alavere, H., Haller, T., Keis, A., Tammesoo, M. L., Aulchenko, Y., Barroso, I. S., Khaw, K. T., Galan, P., Hercberg, S., Lathrop, M., Eyheramendy, S., Org, E., Sõber, S., Lu, X., Nolte, I. M., Penninx, B. W., Corre, T., Masciullo, C., Sala, C., Groop, L., Voight, B. F., Melander, O., O'Donnell, C. J., Salomaa, V., D'Adamo, A. P., Fabretto, A., Faletra, F., Ulivi, S., Del Greco M, F., Facheris, M., Collins, F. S., Bergman, R. N., Beilby, J. P., Hung, J., Musk, A. W., Mangino, M., Shin, S. Y., Soranzo, N., Watkins, H., Goel, A., Hamsten, A., Gider, P., Loitfelder, M., Zeginigg, M., Hernandez, D., Najjar, S. S., Navarro, P., Wild, S. H., Corsi, A. M., Singleton, A., De Geus, E. J. C., Willemsen, G., Parker, A. N., Rose, L. M., Buckley, B., Stott, D., Orru, M., Uda, M., Van Der Klauw, M. M., Zhang, W., Li, X., Scott, J., Chen, Y. D. I., Burke, G. L., Kähönen, M., Viikari, J., Döring, A., Meitinger, T., Davies, G., Starr, J. M., Emilsson, V., Plump, A., Lindeman, J. H., Hoen, P. A. C. T., König, I. R., Felix, J. F., Clarke, R., Hopewell, J. C., Ongen, H., Breteler, M., Debette, S., Destefano, A. L., Fornage, M., Mitchell, G. F., Smith, N. L., Holm, H., Stefansson, K., Thorleifsson, G., Thorsteinsdottir, U., Samani, N. J., Preuss, M., Rudan, I., Hayward, C., Deary, I. J., Wichmann, H. E., Raitakari, O. T., Palmas, W., Kooner, J. S., Stolk, R. P., Jukema, J. W., Wright, A. F., Boomsma, D. I., Bandinelli, S., Gyllensten, U. B., Wilson, J. F., Ferrucci, L., Schmidt, R., Farrall, M., Spector, T. D., Palmer, L. J., Tuomilehto, J., Pfeufer, A., Gasparini, P., Siscovick, D., Altshuler, D., Loos, R. J. F., Toniolo, D., Snieder, H., Gieger, C., Meneton, P., Wareham, N. J., Oostra, B. A., Metspalu, A., Launer, L., Rettig, R., Strachan, D. P., Beckmann, J. S., Witteman, J. C. M., Erdmann, J., Van Dijk, K. W., Boerwinkle, E., Boehnke, M., Ridker, P. M., Jarvelin, M. R., Chakravarti, A., Abecasis, G. R., Gudnason, V., Newton-Cheh, C., Levy, D., Munroe, P. B., Psaty, B. M., Caulfield, M. J., Rao, D. C., Tobin, M. D., Elliott, P. & Van Duijn, C. M., Oct 2011, In : Nature Genetics. 43, 10, p. 1005-1012 8 p.

Research output: Contribution to journalArticle

Molecular epidemiology of Usher syndrome in Italy

Vozzi, D., Aaspõllu, A., Athanasakis, E., Berto, A., Fabretto, A., Licastro, D., Külm, M., Testa, F., Trevisi, P., Vahter, M., Ziviello, C., Martini, A., Simonelli, F., Banfi, S. & Gasparini, P., 2011, In : Molecular Vision. 17, p. 1662-1668 7 p.

Research output: Contribution to journalArticle

2010

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation

Fabretto, A., Shardlow, A., Faletra, F., Lepore, L., Hladnik, U. & Gasparini, P., Jun 2010, In : Ophthalmic Genetics. 31, 2, p. 98-100 3 p.

Research output: Contribution to journalArticle

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I

Fabretto, A., Kutsche, K., Harmsen, M. B., Demarini, S., Gasparini, P., Fertz, M. C. & Zenker, M., Sep 2010, In : European Journal of Medical Genetics. 53, 5, p. 322-324 3 p.

Research output: Contribution to journalArticle

2009

Detection of epidermal thickening in GJB2 carriers with epidermal US1

Guastalla, P., Guerci, V. I., Fabretto, A., Faletra, F., Grasso, D. L., Zocconi, E., Stefanidou, D., D'Adamo, P., Ronfani, L., Montico, M., Morgutti, M. & Gasparini, P., Apr 2009, In : Radiology. 251, 1, p. 280-286 7 p.

Research output: Contribution to journalArticle

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

D'Adamo, P., Guerci, V. I., Fabretto, A., Faletra, F., Grasso, D. L., Ronfani, L., Montico, M., Morgutti, M., Guastalla, P. & Gasparini, P., 2009, In : European Journal of Human Genetics. 17, 3, p. 284-286 3 p.

Research output: Contribution to journalArticle

Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication

Parentin, F., Fabretto, A., Benussi, D. G., Petix, V., Marchetti, F., Dalpr, L., Redaelli, S., Pensiero, S. & Pecile, V., 2009, In : Ophthalmic Genetics. 30, 2, p. 103-105 3 p.

Research output: Contribution to journalArticle