1989 …2020

Research output per year

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Research Output

2017

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

Lepri, F. R., Cocciadiferro, D., Augello, B., Alfieri, P., Pes, V., Vancini, A., Caciolo, C., Squeo, G. M., Malerba, N., Adipietro, I., Novelli, A., Sotgiu, S., Gherardi, R., Digilio, M. C., Dallapiccola, B. & Merla, G., Dec 28 2017, In : International Journal of Molecular Sciences. 19, 1

Research output: Contribution to journalArticle

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

Dentici, M. L., Barresi, S., Niceta, M., Pantaleoni, F., Pizzi, S., Dallapiccola, B., Tartaglia, M. & Digilio, M. C., Apr 25 2017, In : Clinical Genetics. 93, 2, p. 401-407 7 p.

Research output: Contribution to journalArticle

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

Calcagni, G., Unolt, M., Digilio, M. C., Baban, A., Versacci, P., Tartaglia, M., Baldini, A. & Marino, B., Sep 2 2017, In : Expert Review of Molecular Diagnostics. 17, 9, p. 861-870 10 p.

Research output: Contribution to journalReview article

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review

Agolini, E., Dentici, M. L., Bellacchio, E., Alesi, V., Radio, F. C., Torella, A., Musacchia, F., Tartaglia, M., Dallapiccola, B., Nigro, V., Digilio, M. C. & Novelli, A., Sep 13 2017, In : Clinical Genetics.

Research output: Contribution to journalArticle

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

on behalf of the International 22q11.2 Consortium/Brain and Behavior Consortium, Oct 1 2017, In : Circulation: Cardiovascular Genetics. 10, 5, e001690.

Research output: Contribution to journalArticle

haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Le Tanno, P., Breton, J., Bidart, M., Satre, V., Harbuz, R., Ray, P. F., Bosson, C., Dieterich, K., Jaillard, S., Odent, S., Poke, G., Beddow, R., Digilio, M. C., Novelli, A., Bernardini, L., Pisanti, M. A., Mackenroth, L., Hackmann, K., Vogel, I., Christensen, R. & 10 others, Fokstuen, S., Béna, F., Amblard, F., Devillard, F., Vieville, G., Apostolou, A., Jouk, P-S., Guebre-Egziabher, F., Sartelet, H. & Coutton, C., Jul 2017, In : Journal of Medical Genetics. 54, 7, p. 502-510 9 p.

Research output: Contribution to journalArticle

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization

Alesi, V., Orlando, V., Genovese, S., Loddo, S., Pisaneschi, E., Pompili, D., Surace, C., Restaldi, F., Digilio, M. C., Dallapiccola, B., Dentici, M. L. & Novelli, A., Jul 1 2017, In : Cytogenetic and Genome Research. 151, 4, p. 179-185 7 p.

Research output: Contribution to journalArticle

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Reggiani, C., Coppens, S., Sekhara, T., Dimov, I., Pichon, B., Lufin, N., Addor, M. C., Belligni, E. F., Digilio, M. C., Faletra, F., Ferrero, G. B., Gerard, M., Isidor, B., Joss, S., Niel-Bütschi, F., Perrone, M. D., Petit, F., Renieri, A., Romana, S., Topa, A. & 8 others, Vermeesch, J. R., Lenaerts, T., Casimir, G., Abramowicz, M., Bontempi, G., Vilain, C., Deconinck, N. & Smits, G., Jul 19 2017, In : Genome Medicine. 9, 1

Research output: Contribution to journalArticle

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Reggiani, C., Coppens, S., Sekhara, T., Dimov, I., Pichon, B., Lufin, N., Addor, M. C., Belligni, E. F., Digilio, M. C., Faletra, F., Ferrero, G. B., Gerard, M., Isidor, B., Joss, S., Niel-Bütschi, F., Perrone, M. D., Petit, F., Renieri, A., Romana, S., Topa, A. & 8 others, Vermeesch, J. R., Lenaerts, T., Casimir, G., Abramowicz, M., Bontempi, G., Vilain, C., Deconinck, N. & Smits, G., Jul 19 2017, In : Genome Medicine. 9, 1, 67.

Research output: Contribution to journalArticle

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Tanno, P. L., Breton, J., Bidart, M., Satre, V., Harbuz, R., Ray, P. F., Bosson, C., Dieterich, K., Jaillard, S., Odent, S., Poke, G., Beddow, R., Digilio, M. C., Novelli, A., Bernardini, L., Pisanti, M. A., Mackenroth, L., Hackmann, K., Vogel, I., Christensen, R. & 10 others, Fokstuen, S., Béna, F., Amblard, F., Devillard, F., Vieville, G., Apostolou, A., Jouk, P. S., Guebre-Egziabher, F., Sartelet, H. & Coutton, C., Jul 1 2017, In : Journal of Medical Genetics. 54, 7, p. 502-510 9 p.

Research output: Contribution to journalArticle

Psychopathological features in Noonan syndrome

Perrino, F., Licchelli, S., Serra, G., Piccini, G., Caciolo, C., Pasqualetti, P., Cirillo, F., Leoni, C., Digilio, M. C., Zampino, G., Tartaglia, M., Alfieri, P. & Vicari, S., Sep 28 2017, In : European Journal of Paediatric Neurology. 22, 1, p. 170-177 8 p.

Research output: Contribution to journalArticle

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Pannone, L., Bocchinfuso, G., Flex, E., Rossi, C., Baldassarre, G., Lissewski, C., Pantaleoni, F., Consoli, F., Lepri, F., Magliozzi, M., Anselmi, M., Delle Vigne, S., Sorge, G., Karaer, K., Cuturilo, G., Sartorio, A., Tinschert, S., Accadia, M., Digilio, M. C., Zampino, G. & 9 others, De Luca, A., Cavé, H., Zenker, M., Gelb, B. D., Dallapiccola, B., Stella, L., Ferrero, G. B., Martinelli, S. & Tartaglia, M., Apr 1 2017, In : Human Mutation. 38, 4, p. 451-459 9 p.

Research output: Contribution to journalArticle

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Pannone, L., Bocchinfuso, G., Flex, E., Rossi, C., Baldassarre, G., Lissewski, C., Pantaleoni, F., Consoli, F., Lepri, F., Magliozzi, M., Anselmi, M., Delle Vigne, S., Sorge, G., Karaer, K., Cuturilo, G., Sartorio, A., Tinschert, S., Accadia, M., Digilio, M. C., Zampino, G. & 9 others, De Luca, A., Cavé, H., Zenker, M., Gelb, B. D., Dallapiccola, B., Stella, L., Ferrero, G. B., Martinelli, S. & Tartaglia, M., Apr 2017, In : Human Mutation. 38, 4, p. 451-459 9 p.

Research output: Contribution to journalArticle

Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome

Piccini, G., Menghini, D., D'Andrea, A., Caciolo, C., Pontillo, M., Armando, M., Perrino, F., Mandolesi, L., Salerni, A., Buzzonetti, L., Digilio, M. C., Zampino, G., Tartaglia, M., Benassi, M., Vicari, S. & Alfieri, P., Jul 1 2017, In : Genes, Brain and Behavior. 16, 6, p. 627-634 8 p.

Research output: Contribution to journalArticle

2016

Congenital heart defects in Noonan syndrome and RIT1 mutation

Giulio, C., Baban, A., Lepri, F. R., Marino, B., Tartaglia, M. & Digilio, M. C., Dec 1 2016, In : Genetics in Medicine. 18, 12, p. 1320 1 p.

Research output: Contribution to journalLetter

Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review

Calcagni, G., Baban, A., De Luca, E., Leonardi, B., Pongiglione, G. & Digilio, M. C., Mar 1 2016, In : American Journal of Medical Genetics, Part A. 170, 3, p. 665-669 5 p.

Research output: Contribution to journalArticle

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Mlynarski, E. E., Xie, M., Taylor, D., Sheridan, M. B., Guo, T., Racedo, S. E., McDonald-McGinn, D. M., Chow, E. W. C., Vorstman, J., Swillen, A., Devriendt, K., Breckpot, J., Digilio, M. C., Marino, B., Dallapiccola, B., Philip, N., Simon, T. J., Roberts, A. E., Piotrowicz, M., Bearden, C. E. & 11 others, Eliez, S., Gothelf, D., Coleman, K., Kates, W. R., Devoto, M., Zackai, E., Heine- Suñer, D., Goldmuntz, E., Bassett, A. S., Morrow, B. E. & Emanuel, B. S., Mar 1 2016, In : Human Genetics. 135, 3, p. 273-285 13 p.

Research output: Contribution to journalArticle

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome

Radio, F. C., Digilio, M. C., Capolino, R., Dentici, M. L., Unolt, M., Alesi, V., Novelli, A., Marino, B. & Dallapiccola, B., Mar 1 2016, In : American Journal of Medical Genetics, Part A. 170, 3, p. 661-664 4 p.

Research output: Contribution to journalArticle

2015

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Cordeddu, V., Yin, J. C., Gunnarsson, C., Virtanen, C., Drunat, S., Lepri, F., De Luca, A., Rossi, C., Ciolfi, A., Pugh, T. J., Bruselles, A., Priest, J. R., Pennacchio, L. A., Lu, Z., Danesh, A., Quevedo, R., Hamid, A., Martinelli, S., Pantaleoni, F., Gnazzo, M. & 19 others, Daniele, P., Lissewski, C., Bocchinfuso, G., Stella, L., Odent, S., Philip, N., Faivre, L., Vlckova, M., Seemanova, E., Digilio, C., Zenker, M., Zampino, G., Verloes, A., Dallapiccola, B., Roberts, A. E., Cavé, H., Gelb, B. D., Neel, B. G. & Tartaglia, M., Nov 1 2015, In : Human Mutation. 36, 11, p. 1080-1087 8 p.

Research output: Contribution to journalArticle

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

Guida, V., Sinibaldi, L., Pagnoni, M., Bernardini, L., Loddo, S., Margiotti, K., Digilio, M. C., Fadda, M. T., Dallapiccola, B., Iannetti, G. & Alessandro, D. L., Apr 1 2015, In : American Journal of Medical Genetics, Part A. 167, 4, p. 797-801 5 p.

Research output: Contribution to journalArticle

Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients

Di Cesare, S., Puliafito, P., Ariganello, P., Marcovecchio, G. E., Mandolesi, M., Capolino, R., Digilio, M. C., Aiuti, A., Rossi, P. & Cancrini, C., Sep 1 2015, In : Pediatric Allergy and Immunology. 26, 6, p. 591-594 4 p.

Research output: Contribution to journalArticle

Cardiovascular malformations in Adams-Oliver syndrome

Digilio, C. M., Marino, B., Baban, A. & Dallapiccola, B., May 1 2015, In : American Journal of Medical Genetics, Part A. 167, 5, p. 1175-1177 3 p.

Research output: Contribution to journalArticle

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

Pisaneschi, E., Sirleto, P., Lepri, F. R., Genovese, S., Dentici, M. L., Petrocchi, S., Angioni, A., Digilio, M. C. & Dallapiccola, B., Sep 3 2015, In : BMC Medical Genetics. 16, 1, 78.

Research output: Contribution to journalArticle

Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome

Mlynarski, E. E., Sheridan, M. B., Xie, M., Guo, T., Racedo, S. E., McDonald-Mcginn, D. M., Gai, X., Chow, E. W. C., Vorstman, J., Swillen, A., Devriendt, K., Breckpot, J., Digilio, M. C., Marino, B., Dallapiccola, B., Philip, N., Simon, T. J., Roberts, A. E., Piotrowicz, M., Bearden, C. E. & 12 others, Eliez, S., Gothelf, D., Coleman, K., Kates, W. R., Devoto, M., Zackai, E., Heine-Suñer, D., Shaikh, T. H., Bassett, A. S., Goldmuntz, E., Morrow, B. E. & Emanuel, B. S., May 7 2015, In : American Journal of Human Genetics. 96, 5, p. 753-764 12 p.

Research output: Contribution to journalArticle

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome with Variable Cardiac Anomalies

Southgate, L., Sukalo, M., Karountzos, A. S. V., Taylor, E. J., Collinson, C. S., Ruddy, D., Snape, K. M., Dallapiccola, B., Tolmie, J. L., Joss, S., Brancati, F., Digilio, M. C., Graul-Neumann, L. M., Salviati, L., Coerdt, W., Jacquemin, E., Wuyts, W., Zenker, M., Machado, R. D. & Trembath, R. C., Aug 25 2015, In : Circulation: Cardiovascular Genetics. 8, 4, p. 572-581 10 p.

Research output: Contribution to journalArticle

Hypoplastic left heart syndrome and 21q22.3 deletion

Ciocca, L., Digilio, M. C., Lombardo, A., D'Elia, G., Baban, A., Capolino, R., Petrocchi, S., Russo, S., Sirleto, P., Roberti, M. C., Marino, B., Angioni, A. & Dallapiccola, B., Mar 1 2015, In : American Journal of Medical Genetics, Part A. 167, 3, p. 579-586 8 p.

Research output: Contribution to journalArticle

Kabuki syndrome: Clinical and molecular diagnosis in the first year of life

Dentici, M. L., Di Pede, A., Lepri, F. R., Gnazzo, M., Lombardi, M. H., Auriti, C., Petrocchi, S., Pisaneschi, E., Bellacchio, E., Capolino, R., Braguglia, A., Angioni, A., Dotta, A., Digilio, M. C. & Dallapiccola, B., Feb 1 2015, In : Archives of Disease in Childhood. 100, 2, p. 158-164 7 p.

Research output: Contribution to journalArticle

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

Martinelli, S., Stellacci, E., Pannone, L., D'Agostino, D., Consoli, F., Lissewski, C., Silvano, M., Cencelli, G., Lepri, F., Maitz, S., Pauli, S., Rauch, A., Zampino, G., Selicorni, A., Melançon, S., Digilio, M. C., Gelb, B. D., De Luca, A., Dallapiccola, B., Zenker, M. & 1 others, Tartaglia, M., Aug 1 2015, In : Human Mutation. 36, 8, p. 787-796 10 p.

Research output: Contribution to journalArticle

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions

Kamien, B., Digilio, M. C., Novelli, A., O'Donnell, S., Bain, N., Meldrum, C., Dudding-Byth, T., Scott, R. J. & Goel, H., 2015, In : European Journal of Medical Genetics. 58, 11, p. 629-633 5 p.

Research output: Contribution to journalArticle

P.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Pinna, V., Lanari, V., Daniele, P., Consoli, F., Agolini, E., Margiotti, K., Bottillo, I., Torrente, I., Bruselles, A., Fusilli, C., Ficcadenti, A., Bargiacchi, S., Trevisson, E., Forzan, M., Giustini, S., Leoni, C., Zampino, G., Cristina Digilio, M., Dallapiccola, B., Clementi, M. & 2 others, Tartaglia, M. & De Luca, A., Aug 21 2015, In : European Journal of Human Genetics. 23, 8, p. 1068-1071 4 p.

Research output: Contribution to journalArticle

Recurrent duplications of 17q12 associated with variable phenotypes

Mitchell, E., Douglas, A., Kjaegaard, S., Callewaert, B., Vanlander, A., Janssens, S., Yuen, A. L., Skinner, C., Failla, P., Alberti, A., Avola, E., Fichera, M., Kibaek, M., Digilio, M. C., Hannibal, M. C., den Hollander, N. S., Bizzarri, V., Renieri, A., Mencarelli, M. A., Fitzgerald, T. & 12 others, Piazzolla, S., van Oudenhove, E., Romano, C., Schwartz, C., Eichler, E. E., Slavotinek, A., Escobar, L., Rajan, D., Crolla, J., Carter, N., Hodge, J. C. & Mefford, H. C., Dec 1 2015, In : American Journal of Medical Genetics, Part A. 167, 12, p. 3038-3045 8 p.

Research output: Contribution to journalArticle

Specific variants in WDR35 cause a distinctive form of ellis-van creveld syndrome by disrupting the recruitment of the evc complex and smo into the cilium

Caparrós-martín, J. A., De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G. A., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J. L., Nevado, J., Rueda-Arenas, I., Heath, K. E., Digilio, M. C., Dallapiccola, B., Goodship, J. A., Mill, P., Lapunzina, P. & Ruiz-Perez, V. L., Jul 15 2015, In : Human Molecular Genetics. 24, 14, p. 4126-4137 12 p., ddv152.

Research output: Contribution to journalArticle

Spinal ependymoma in a patient with Kabuki syndrome: A case report

Roma, D., Palma, P., Capolino, R., Figà-Talamanca, L., Diomedi-Camassei, F., Lepri, F. R., Digilio, M. C., Marras, C. E., Messina, R., Carai, A., Randi, F. & Mastronuzzi, A., Sep 5 2015, In : BMC Medical Genetics. 16, 1, 80.

Research output: Contribution to journalArticle

2014

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Flex, E., Jaiswal, M., Pantaleoni, F., Martinelli, S., Strullu, M., Fansa, E. K., Caye, A., De Luca, A., Lepri, F., Dvorsky, R., Pannone, L., Paolacci, S., Zhang, S. C., Fodale, V., Bocchinfuso, G., Rossi, C., Burkitt-Wright, E. M. M., Farrotti, A., Stellacci, E., Cecchetti, S. & 28 others, Ferese, R., Bottero, L., Castro, S., Fenneteau, O., Brethon, B., Sanchez, M., Roberts, A. E., Yntema, H. G., Van Der Burgt, I., Cianci, P., Bondeson, M. L., Digilio, M. C., Zampino, G., Kerr, B., Aoki, Y. K., Loh, M. L., Palleschi, A., Di Schiavi, E., Caré, A., Selicorni, A., Dallapiccola, B., Cirstea, I. C., Stella, L., Zenker, M., Gelb, B. D., Cavé, H., Ahmadian, M. R. & Tartaglia, M., 2014, In : Human Molecular Genetics. 23, 16, p. 4315-4327 13 p., ddu148.

Research output: Contribution to journalArticle

Behavioral profile in RASopathies

Alfieri, P., Piccini, G., Caciolo, C., Perrino, F., Gambardella, M. L., Mallardi, M., Cesarini, L., Leoni, C., Leone, D., Fossati, C., Selicorni, A., Digilio, M. C., Tartaglia, M., Mercuri, E., Zampino, G. & Vicari, S., 2014, In : American Journal of Medical Genetics, Part A. 164, 4, p. 934-942 9 p.

Research output: Contribution to journalArticle

Clinical features and follow-up in patients with 22q11.2 deletion syndrome

Cancrini, C., Puliafito, P., Digilio, M. C., Soresina, A., Martino, S., Rondelli, R., Consolini, R., Ruga, E. M., Cardinale, F., Finocchi, A., Romiti, M. L., Martire, B., Bacchetta, R., Albano, V., Carotti, A., Specchia, F., Montin, D., Cirillo, E., Cocchi, G., Trizzino, A. & 11 others, Bossi, G., Milanesi, O., Azzari, C., Corsello, G., Pignata, C., Aiuti, A., Pietrogrande, M. C., Marino, B., Ugazio, A. G., Plebani, A. & Rossi, P., 2014, In : Journal of Pediatrics. 164, 6

Research output: Contribution to journalArticle

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

Lepri, F. R., Scavelli, R., Digilio, M. C., Gnazzo, M., Grotta, S., Dentici, M. L., Pisaneschi, E., Sirleto, P., Capolino, R., Baban, A., Russo, S., Franchin, T., Angioni, A. & Dallapiccola, B., Jan 23 2014, In : BMC Medical Genetics. 15, 1, 14.

Research output: Contribution to journalArticle

Genetics of ebstein anomaly

Digilio, M. C., Silvestri, L. M., Dallapiccola, B. & Marino, B., Feb 1 2014, The Tricuspid Valve in Congenital Heart Disease. Springer-Verlag Italia s.r.l., p. 25-30 6 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation

Baban, A., Pitto, L., Pulignani, S., Cresci, M., Mariani, L., Gambacciani, C., Digilio, M. C., Pongiglione, G. & Albanese, S., 2014, In : American Journal of Medical Genetics, Part A. 164, 6, p. 1419-1424 6 p.

Research output: Contribution to journalArticle

Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot

Baban, A., Postma, A. V., Marini, M., Trocchio, G., Santilli, A., Pelegrini, M., Sirleto, P., Lerone, M., Albanese, S. B., Barnett, P., Boogerd, C. J., Dallapiccola, B., Digilio, M. C., Ravazzolo, R. & Pongiglione, G., Dec 1 2014, In : American Journal of Medical Genetics, Part A. 164, 12, p. 3100-3107 8 p.

Research output: Contribution to journalArticle

Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

Cirillo, E., Giardino, G., Gallo, V., Puliafito, P., Azzari, C., Bacchetta, R., Cardinale, F., Cicalese, M. P., Consolini, R., Martino, S., Martire, B., Molinatto, C., Plebani, A., Scarano, G., Soresina, A., Cancrini, C., Rossi, P., Digilio, M. C. & Pignata, C., Jan 2 2014, In : BMC Medical Genetics. 15, 1, 1.

Research output: Contribution to journalArticle

Long-term follow-up in Stuve-Wiedemann syndrome: A case report with articular involvement

Buonuomo, P. S., MacChiaiolo, M., Cambiaso, P., Rana, I., Digilio, M. C. & Bartuli, A., 2014, In : Clinical Dysmorphology. 23, 2, p. 45-46 2 p.

Research output: Contribution to journalArticle