1964 …2019

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2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

Association of Bright Liver with the PNPLA3 I148M Gene Variant in 1-year-old Toddlers

Bedogni, G., De Matteis, G., Fabrizi, M., Alisi, A., Crudele, A., Pizzolante, F., Signore, F., Dallapiccola, B., Nobili, V. & Manco, M., Jan 14 2019, In : The Journal of clinical endocrinology and metabolism.

Research output: Contribution to journalArticle

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome

Davis, K. W., Serrano, M., Loddo, S., Robinson, C., Alesi, V., Dallapiccola, B., Novelli, A. & Butler, M. G., Mar 22 2019, In : International Journal of Molecular Sciences. 20, 6

Research output: Contribution to journalArticle

Potential of multiomics technology in precision medicine

Putignani, L., Gasbarrini, A. & Dallapiccola, B., Nov 2019, In : Current Opinion in Gastroenterology. 35, 6, p. 491-498 8 p.

Research output: Contribution to journalArticle

Skeletal abnormalities are common features in Aymé-Gripp syndrome

Niceta, M., Barbuti, D., Gupta, N., Ruggiero, C., Tizzano, E. F., Graul-Neumann, L., Barresi, S., Nishimura, G., Valenzuela, I., López-Grondona, F., Fernandez-Alvarez, P., Leoni, C., Zweier, C., Tzschach, A., Stellacci, E., Del Fattore, A., Dallapiccola, B., Zampino, G. & Tartaglia, M., 2019, In : Clinical Genetics. 97, 2, p. 362-369 8 p.

Research output: Contribution to journalArticle

2018

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A. & Tartaglia, M., Jan 1 2018, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

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., Jan 1 2018, In : International Journal of Molecular Sciences. 19, 1, 82.

Research output: Contribution to journalArticle

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

Wolfe, K., McQuillin, A., Alesi, V., Boudry Labis, E., Cutajar, P., Dallapiccola, B., Dentici, M. L., Dieux-Coeslier, A., Duban-Bedu, B., Duelund Hjortshøj, T., Goel, H., Loddo, S., Morrogh, D., Mosca-Boidron, A-L., Novelli, A., Olivier-Faivre, L., Parker, J., Parker, M. J., Patch, C., Pelling, A. L. & 8 others, Smol, T., Tümer, Z., Vanakker, O., van Haeringen, A., Vanlerberghe, C., Strydom, A., Skuse, D. & Bass, N., Jun 2018, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 177, 4, p. 397-405 9 p.

Research output: Contribution to journalArticle

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

University of Washington Center for Mendelian Genomics, Aug 2 2018, In : American Journal of Human Genetics. 103, 2, p. 305-316 12 p.

Research output: Contribution to journalArticle

First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder

Loddo, S., Alesi, V., Genovese, S., Orlando, V., Calacci, C., Restaldi, F., Pompili, D., Liambo, M. T., Digilio, M. C., Dallapiccola, B., Dentici, M. L. & Novelli, A., Oct 30 2018, In : Cytogenetic and Genome Research.

Research output: Contribution to journalArticle

Gut Microbiota Markers in Obese Adolescent and Adult Patients: Age-Dependent Differential Patterns

Del Chierico, F., Abbatini, F., Russo, A., Quagliariello, A., Reddel, S., Capoccia, D., Caccamo, R., Ginanni Corradini, S., Nobili, V., De Peppo, F., Dallapiccola, B., Leonetti, F., Silecchia, G. & Putignani, L., 2018, In : Frontiers in Microbiology. 9, p. 1210 12 p.

Research output: Contribution to journalArticle

Gut microbiota signatures in cystic fibrosis: Loss of host CFTR function drives the microbiota enterophenotype

Vernocchi, P., Del Chierico, F., Russo, A., Majo, F., Rossitto, M., Valerio, M., Casadei, L., La Storia, A., De Filippis, F., Rizzo, C., Manetti, C., Paci, P., Ercolini, D., Marini, F., Fiscarelli, E. V., Dallapiccola, B., Lucidi, V., Miccheli, A. & Putignani, L., 2018, In : PLoS One. 13, 12, p. e0208171

Research output: Contribution to journalArticle

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Ferese, R., Bonetti, M., Consoli, F., Guida, V., Sarkozy, A., Lepri, F. R., Versacci, P., Gambardella, S., Calcagni, G., Margiotti, K., Piceci Sparascio, F., Hozhabri, H., Mazza, T., Digilio, M. C., Dallapiccola, B., Tartaglia, M., Marino, B., Hertog, J. D. & De Luca, A., Oct 2018, In : Human Mutation. 39, 10, p. 1428-1441 14 p.

Research output: Contribution to journalArticle

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Ferese, R., Bonetti, M., Consoli, F., Guida, V., Sarkozy, A., Lepri, F. R., Versacci, P., Gambardella, S., Calcagni, G., Margiotti, K., Piceci Sparascio, F., Hozhabri, H., Mazza, T., Digilio, M. C., Dallapiccola, B., Tartaglia, M., Marino, B., Hertog, J. D. & De Luca, A., Oct 1 2018, In : Human Mutation. 39, 10, p. 1428-1441 14 p.

Research output: Contribution to journalArticle

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Faundes, V., Newman, W. G., Bernardini, L., Canham, N., Clayton-Smith, J., Dallapiccola, B., Davies, S. J., Demos, M. K., Goldman, A., Gill, H., Horton, R., Kerr, B., Kumar, D., Lehman, A., McKee, S., Morton, J., Parker, M. J., Rankin, J., Robertson, L., Temple, I. K. & 1 others, Banka, S., Jan 4 2018, In : American Journal of Human Genetics. 102, 1, p. 175-187 13 p.

Research output: Contribution to journalArticle

Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experience

Baban, A., Cantarutti, N., Adorisio, R., Lombardi, R., Calcagni, G., Piano Mortari, E., Dallapiccola, B., Marino, B., Iorio, F. S., Carsetti, R., Digilio, M. C., Giannico, S., Drago, F. & Carotti, A., Oct 1 2018, In : International Journal of Cardiology. 268, p. 100-105 6 p.

Research output: Contribution to journalArticle

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

Bauer, C. K., Calligari, P., Radio, F. C., Caputo, V., Dentici, M. L., Falah, N., High, F., Pantaleoni, F., Barresi, S., Ciolfi, A., Pizzi, S., Bruselles, A., Person, R., Richards, S., Cho, M. T., Claps Sepulveda, D. J., Pro, S., Battini, R., Zampino, G., Digilio, M. C. & 4 others, Bocchinfuso, G., Dallapiccola, B., Stella, L. & Tartaglia, M., Oct 4 2018, In : American Journal of Human Genetics. 103, 4, p. 621-630 10 p.

Research output: Contribution to journalArticle

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism

Radio, F. C., Di Meglio, L., Agolini, E., Bellacchio, E., Rinelli, M., Toscano, P., Boldrini, R., Novelli, A., Di Meglio, A. & Dallapiccola, B., May 2018, In : Molecular genetics & genomic medicine. 6, 3, p. 446-451 6 p.

Research output: Contribution to journalArticle

Small 4p16.3 deletions: Three additional patients and review of the literature

Bernardini, L., Radio, F. C., Acquaviva, F., Gorgone, C., Postorivo, D., Torres, B., Alesi, V., Magliozzi, M., Lonardo, F., Monica, M. D., Nardone, A. M., Cesario, C., Mattina, T., Scarano, G., Dallapiccola, B., Digilio, M. C. & Novelli, A., Sep 23 2018, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Small 4p16.3 deletions: Three additional patients and review of the literature

Bernardini, L., Radio, F. C., Acquaviva, F., Gorgone, C., Postorivo, D., Torres, B., Alesi, V., Magliozzi, M., Lonardo, F., Monica, M. D., Nardone, A. M., Cesario, C., Mattina, T., Scarano, G., Dallapiccola, B., Digilio, M. C. & Novelli, A., 2018, In : American Journal of Medical Genetics, Part A. 176, 11, p. 2501-2508 8 p.

Research output: Contribution to journalArticle

2017

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A. & Tartaglia, M., Aug 30 2017, In : Clinical Genetics.

Research output: Contribution to journalArticle

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A. & Tartaglia, M., Aug 30 2017, In : Clinical Genetics.

Research output: Contribution to journalArticle

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

Calcagni, G., Limongelli, G., D'Ambrosio, A., Gesualdo, F., Digilio, M. C., Baban, A., Albanese, S. B., Versacci, P., De Luca, E., Ferrero, G. B., Baldassarre, G., Agnoletti, G., Banaudi, E., Marek, J., Kaski, J. P., Tuo, G., Russo, M. G., Pacileo, G., Milanesi, O., Messina, D. & 7 others, Marasini, M., Cairello, F., Formigari, R., Brighenti, M., Dallapiccola, B., Tartaglia, M. & Marino, B., Oct 15 2017, In : International Journal of Cardiology. 245, p. 92-98 7 p.

Research output: Contribution to journalArticle

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

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

FOXP1-related intellectual disability syndrome: A recognisable entity

Meerschaut, I., Rochefort, D., Revençu, N., Pètre, J., Corsello, C., Rouleau, G. A., Hamdan, F. F., Michaud, J. L., Morton, J., Radley, J., Ragge, N., García-Miñaúr, S., Lapunzina, P., Bralo, M. P., Mori, M. A., Moortgat, S., Benoit, V., Mary, S., Bockaert, N., Oostra, A. & 26 others, Vanakker, O., Velinov, M., De Ravel, T. J. L., Mekahli, D., Sebat, J., Vaux, K. K., DiDonato, N., Hanson-Kahn, A. K., Hudgins, L., Dallapiccola, B., Novelli, A., Tarani, L., Andrieux, J., Parker, M. J., Neas, K., Ceulemans, B., Schoonjans, A. S., Prchalova, D., Havlovicova, M., Hancarova, M., Budisteanu, M., Dheedene, A., Menten, B., Dion, P. A., Lederer, D. & Callewaert, B., Sep 1 2017, In : Journal of Medical Genetics. 54, 9, p. 613-623 11 p.

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

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Deciphering Developmental Disorders Study, Nov 2 2017, In : American Journal of Human Genetics. 101, 5, p. 664-685 22 p.

Research output: Contribution to journalArticle

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study, Dec 21 2017, In : American Journal of Human Genetics. 102, 1, p. 175-187 13 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

Reassessment of the 12q15 deletion syndrome critical region

Alesi, V., Loddo, S., Grispo, M., Riccio, S., Montella, A. C., Dallapiccola, B., Ulgheri, L. & Novelli, A., Apr 1 2017, In : European Journal of Medical Genetics. 60, 4, p. 220-223 4 p.

Research output: Contribution to journalArticle