19982020

Research output per year

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Research Output

DNA methylation in the diagnosis of monogenic diseases

Cerrato, F., Sparago, A., Ariani, F., Brugnoletti, F., Calzari, L., Coppedè, F., De Luca, A., Gervasini, C., Giardina, E., Gurrieri, F., Nigro, C. L., Merla, G., Miozzo, M., Russo, S., Sangiorgi, E., Sirchia, S. M., Squeo, G. M., Tabano, S., Tabolacci, E., Torrente, I. & 3 others, Genuardi, M., Neri, G. & Riccio, A., Apr 2020, In : Genes. 11, 4, 355.

Research output: Contribution to journalReview article

Open Access

Genetic factors in rotator cuff pathology: Potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair

Petrillo, S., Longo, U. G., Margiotti, K., Candela, V., Fusilli, C., Rizzello, G., De Luca, A. & Denaro, V., Apr 17 2020, In : BMC Medical Genetics. 21, 1, 82.

Research output: Contribution to journalArticle

Open Access

Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran

Hozhabri, H., Talebi, M., Mehrjardi, M. Y. V., De Luca, A. & Dehghani, M., May 1 2020, In : American Journal of Medical Genetics, Part A. 182, 5, p. 957-961 5 p.

Research output: Contribution to journalArticle

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

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

Giuffrida, M. G., Mastromoro, G., Guida, V., Truglio, M., Fabbretti, M., Torres, B., Mazza, T., De Luca, A., Roggini, M., Bernardini, L. & Pizzuti, A., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D’Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., 2019, In : Human Mutation. 40, 8, p. 1046-1056 11 p.

Research output: Contribution to journalArticle

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D'Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., May 6 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M. & 88 others, D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pivnick, E. K., Pinna, V., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2019, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Open Access

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M. & 88 others, D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pivnick, E. K., Pinna, V., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2019, In : Hum. Mutat..

Research output: Contribution to journalArticle

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Holt, R. J., Young, R. M., Crespo, B., Ceroni, F., Curry, C. J., Bellacchio, E., Bax, D. A., Ciolfi, A., Simon, M., Fagerberg, C. R., van Binsbergen, E., De Luca, A., Memo, L., Dobyns, W. B., Mohammed, A. A., Clokie, S. J. H., Zazo Seco, C., Jiang, Y. H., Sørensen, K. P., Andersen, H. & 14 others, Sullivan, J., Powis, Z., Chassevent, A., Smith-Hicks, C., Petrovski, S., Antoniadi, T., Shashi, V., Gelb, B. D., Wilson, S. W., Gerrelli, D., Tartaglia, M., Chassaing, N., Calvas, P. & Ragge, N. K., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 640-657 18 p.

Research output: Contribution to journalArticle

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Holt, R. J., Young, R. M., Crespo, B., Ceroni, F., Curry, C. J., Bellacchio, E., Bax, D. A., Ciolfi, A., Simon, M., Fagerberg, C. R., van Binsbergen, E., De Luca, A., Memo, L., Dobyns, W. B., Mohammed, A. A., Clokie, S. J. H., Zazo Seco, C., Jiang, Y. H., Sørensen, K. P., Andersen, H. & 14 others, Sullivan, J., Powis, Z., Chassevent, A., Smith-Hicks, C., Petrovski, S., Antoniadi, T., Shashi, V., Gelb, B. D., Wilson, S. W., Gerrelli, D., Tartaglia, M., Chassaing, N., Calvas, P. & Ragge, N. K., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 640-657 18 p.

Research output: Contribution to journalArticle

Open Access

Effectiveness of dolutegravir-based regimens as either first-line or switch antiretroviral therapy: data from the Icona cohort

ICONA Foundation Study group, Jan 1 2019, In : Journal of the International AIDS Society. 22, 1, p. 1-10 10 p., e25227.

Research output: Contribution to journalArticle

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Hauer, N. N., Popp, B., Taher, L., Vogl, C., Dhandapany, P. S., Büttner, C., Uebe, S., Sticht, H., Ferrazzi, F., Ekici, A. B., De Luca, A., Klinger, P., Kraus, C., Zweier, C., Wiesener, A., Jamra, R. A., Kunstmann, E., Rauch, A., Wieczorek, D., Jung, A. M. & 5 others, Rohrer, T. R., Zenker, M., Doerr, H. G., Reis, A. & Thiel, C. T., Jan 1 2019, In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Open Access

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

Bidollari, E., Rotundo, G., Altieri, F., Amicucci, M., Wiquel, D., Ferrari, D., Goldoni, M., Bernardini, L., Consoli, F., De Luca, A., Fanelli, S., Lamorte, G., D'Agruma, L., Vescovi, A. L., Squitieri, F. & Rosati, J., Oct 1 2019, In : Stem Cell Research. 40, 101551.

Research output: Contribution to journalArticle

Open Access

Hepatitis C virus–related factors associated WITH cognitive performance in HIV-HCV-coinfected patients

Fabbiani, M., Ciccarelli, N., Castelli, V., Soria, A., Borghetti, A., Colella, E., Moschese, D., Valsecchi, M., Emiliozzi, A., Gori, A., De Luca, A., Bandera, A. & Di Giambenedetto, S., Jan 1 2019, In : Journal of NeuroVirology.

Research output: Contribution to journalArticle

Is it time to re-think the use of etravirine in patients with available genotypic resistance test?

Del Puente, F., Riccardi, N., Taramasso, L., Borghetti, A., D’Avino, A., Irene Bonelli, S., De Luca, A., Zazzi, M. & Di Biagio, A., Jan 1 2019, In : Infectious Diseases. 51, 6, p. 452-455

Research output: Contribution to journalLetter

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

Assunto, A., Ferrara, U., De Luca, A., Pivonello, C., Lombardo, L., Piscitelli, A., Tortora, C., Pinna, V., Daniele, P., Pivonello, R., Russo, M. G., Limongelli, G., Colao, A., Tartaglia, M., Strisciuglio, P. & Melis, D., Nov 15 2019, In : Orphanet Journal of Rare Diseases. 14, 1

Research output: Contribution to journalArticle

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

Assunto, A., Ferrara, U., De Luca, A., Pivonello, C., Lombardo, L., Piscitelli, A., Tortora, C., Pinna, V., Daniele, P., Pivonello, R., Russo, M. G., Limongelli, G., Colao, A., Tartaglia, M., Strisciuglio, P. & Melis, D., Nov 15 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 261.

Research output: Contribution to journalArticle

Is physician assessment of alcohol consumption useful in predicting risk of severe liver disease among people with HIV and HIV/HCV co-infection?

ICONA Foundation Study group, Oct 15 2019, In : BMC Public Health. 19, 1, p. 1-13 13 p., 1291.

Research output: Contribution to journalArticle

Open Access

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: Insights into molecular properties of selected exostosin variants

Fusco, C., Nardella, G., Fischetto, R., Copetti, M., Petracca, A., Annunziata, F., Augello, B., D'Asdia, M. C., Petrucci, S., Mattina, T., Rella, A., Cassina, M., Bengala, M., Biagini, T., Causio, F. A., Caldarini, C., Brancati, F., De Luca, A., Guarnieri, V., Micale, L. & 2 others, D'Agruma, L. & Castori, M., Jul 1 2019, In : Human Molecular Genetics. 28, 13, p. 2133-2142 10 p.

Research output: Contribution to journalArticle

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Pinna, V., Daniele, P., Calcagni, G., Mariniello, L., Criscione, R., Giardina, C., Lepri, F. R., Hozhabri, H., Alberico, A., Cavone, S., Morella, A. T., Mandile, R., Annunziata, F., Di Giosaffatte, N., D'Asdia, M. C., Versacci, P., Capolino, R., Strisciuglio, P., Giustini, S., Melis, D. & 4 others, Digilio, M. C., Tartaglia, M., Marino, B. & De Luca, A., Sep 4 2019, In : Genes. 10, 9

Research output: Contribution to journalArticle

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Pinna, V., Daniele, P., Calcagni, G., Mariniello, L., Criscione, R., Giardina, C., Lepri, F. R., Hozhabri, H., Alberico, A., Cavone, S., Morella, A. T., Mandile, R., Annunziata, F., Di Giosaffatte, N., D'Asdia, M. C., Versacci, P., Capolino, R., Strisciuglio, P., Giustini, S., Melis, D. & 4 others, Digilio, M. C., Tartaglia, M., Marino, B. & De Luca, A., Sep 4 2019, In : Genes. 10, 9

Research output: Contribution to journalArticle

Open Access

Prevalence of acquired resistance mutations in a large cohort of perinatally infected HIV-1 patients

Ungaro, R., Taramasso, L., Bruzzone, B., Vicenti, I., Galli, L., Borghi, V., Francisci, D., Pecorari, M., Zoncada, A., Callegaro, A. P., Paolini, E., Monno, L., Bonora, S., Di Biagio, A., Giacometti, A., Butini, L., del Gobbo, R., Bagnarelli, P., Tacconi, D., Corbelli, G. & 30 others, Zanussi, S., Monno, L., Punzi, G., Maggiolo, F., Calza, L., Carla Re, M., Pristera, R., Turconi, P., Mandas, A., Tini, S., Zoncada, A., Paolini, E., Amadio, G., Sighinolfi, L., Corsi, P., Galli, L., Di Pietro, M., Colao, G., Biondi, M. L., Maserati, R., Filice, G., Baldanti, F., Magnani, G., Palmisano, L., Antinori, A., Zaccarelli, M., De Luca, A., Rossi, C., Grossi, P. & Seminari, E., Nov 1 2019, In : Clinical Microbiology and Infection. 25, 11, p. 1443-1446 4 p.

Research output: Contribution to journalLetter

Shagreen-patch in a NF1 patient with a new missense mutation

Lopez, T., Paolino, G., Miraglia, E., Iacovino, C., De Luca, A., Donati, P., Calvieri, S. & Giustini, S., Apr 1 2019, In : Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia. 154, 2, p. 223-224 2 p.

Research output: Contribution to journalArticle

The effect of primary drug resistance on CD4+ cell decline and the viral load set-point in HIV-positive individuals before the start of antiretroviral therapy

European Transmitted Drug Resistance collaboration (EU-TDR), Schultze, A., Torti, C., Cozzi-Lepri, A., Vandamme, A. M., Zazzi, M., Sambatakou, H., De Luca, A., Geretti, A. M., Sonnerborg, A., Ruiz, L., Monno, L., Di Giambenedetto, S., Gori, A. & Lapadula, G., Feb 1 2019, In : AIDS (London, England). 33, 2, p. 315-326 12 p.

Research output: Contribution to journalArticle

Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats

Zalfa, C., Rota Nodari, L., Vacchi, E., Gelati, M., Profico, D., Boido, M., Binda, E., De Filippis, L., Copetti, M., Garlatti, V., Daniele, P., Rosati, J., De Luca, A., Pinos, F., Cajola, L., Visioli, A., Mazzini, L., Vercelli, A., Svelto, M., Vescovi, A. L. & 1 others, Ferrari, D., May 1 2019, In : Cell Death and Disease. 10, 5, 345.

Research output: Contribution to journalArticle

Open Access
2018

A comprehensive development agenda on tenofovir alafenamide in clinical practice

Di Biagio, A., Riccardi, N., Rusconi, S., Guaraldi, G., Borderi, M., De Luca, A., Gianotti, N., Lo Caputo, S., Maggi, P., Maserati, R. & Maggiolo, F., Apr 1 2018, In : AIDS Reviews. 20, 2, p. 75-82 8 p.

Research output: Contribution to journalReview article

A possible role for selenoprotein glutathione peroxidase (GPx1) and thioredoxin reductases (TrxR1) in thyroid cancer: Our experience in thyroid surgery

Metere, A., Frezzotti, F., Graves, C. E., Vergine, M., De Luca, A., Pietraforte, D. & Giacomelli, L., Jan 15 2018, In : Cancer Cell International. 18, 1, 7.

Research output: Contribution to journalArticle

Open Access

Atazanavir/ritonavir with lamivudine as maintenance therapy in virologically suppressed HIV-infected patients: 96 week outcomes of a randomized trial

Fabbiani, M., Gagliardini, R., Ciccarelli, N., Roldan, E. Q., Latini, A., D'Ettorre, G., Antinori, A., Castagna, A., Orofino, G., Francisci, D., Chinello, P., Madeddu, G., Grima, P., Rusconi, S., Del Pin, B., Lombardi, F., D'Avino, A., Focà, E., Colafigli, M., Cauda, R. & 131 others, Di Giambenedetto, S., De Luca, A., Mondi, A., Borghetti, A., Baldonero, E., Belmonti, S., Lamonica, S., Sidella, L., Tamburrini, E., Visconti, E., Giacometti, A., Barchiesi, F., Castelli, P., Cirioni, O., Mazzocato, S., Di Pietro, M., Blanc, P., Degli Esposti, A., Mariabelli, E., Marini, S., Poggi, A., Quiros Roldan, E., Amadasi, S., Apostoli, A., Biasi, L., Bonito, A., Brianese, N., Compostella, S., Ferraresi, A., Motta, D., Mughini, M. T., Celesia, B. M., Gussio, M., Sofia, S., Tana, M., Tundo, P., Viscoli, C., De Hoffer, L., Di Biagio, A., Grignolo, S., Parisini, A., Schenone, E., Taramasso, L., Manconi, P. E., Boccone, A., Ortu, F., Piano, P., Serusi, L., Puoti, M., Moioli, M. C., Rossotti, R., Travi, G., Ventura, F., Galli, M., Di Nardo Stuppino, S., Di Cristo, V., Giacomelli, A., Vimercati, V., Viale, P., Gori, A., Rizzardini, G., Capetti, A., Carenzi, L., Mazza, F., Meraviglia, P., Rosa, S., Zucchi, P., Mineo, M., Giuliani, M., Pacifici, A., Pimpinelli, F., Solivetti, F., Stivali, F., Angelici, F., Bellagamba, R., Delle Rose, D., Fezza, R., Libertone, R., Mosti, S., Narciso, P., Nicastri, E., Ottou, S., Tomassi, C., Vlassi, C., Zaccarelli, M., Zoppè, F., Vullo, V., D'Ettorre, G., Altavilla, F., Ceccarelli, G., Fantauzzi, A., Gebremeskel, S., Lo Menzo, S., Mezzaroma, I., Tierno, F., Petrosillo, N., Boumis, E., Cicalini, S., Grilli, E., Musso, M., Stella, C., Mura, M. S., Bagella, P., Mannazzu, M., Soddu, V., Caramello, P., Carcieri, C., Carosella, S., Farenga, M., Scotton, P. G., Rossi, M. C., Concia, E., Corsini, F., Gricolo, C., Lanzafame, M., Lattuada, E., Leonardi, S., Rigo, F., Lazzarin, A., Bigoloni, A., Carini, E., Nozza, S., Spagnuolo, V., Belfiori, B., Malincarne, L., Schiaroli, E., Sfara, C., Tosti, A., Sacchini, D., Ruggieri, A. & Valdatta, C., 2018, In : Journal of Antimicrobial Chemotherapy. 73, 7, p. 1955-1964 10 p.

Research output: Contribution to journalArticle

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis

Fusilli, C., Migliore, S., Mazza, T., Consoli, F., De Luca, A., Barbagallo, G., Ciammola, A., Gatto, E. M., Cesarini, M., Etcheverry, J. L., Parisi, V., Al-Oraimi, M., Al-Harrasi, S., Al-Salmi, Q., Marano, M., Vonsattel, J. P. G., Sabatini, U., Landwehrmeyer, G. B. & Squitieri, F., Nov 1 2018, In : The Lancet Neurology. 17, 11, p. 986-993 8 p.

Research output: Contribution to journalArticle

Biological and clinical manifestations of juvenile Huntington's disease

Fusilli, C., Migliore, S., Mazza, T., Consoli, F., De Luca, A., Barbagallo, G., Ciammola, A., Gatto, E. M., Cesarini, M., Etcheverry, J. L., Parisi, V., Al-Oraimi, M., Al-Harrasi, S., Al-Salmi, Q., Marano, M., Vonsattel, J. P. G., Sabatini, U., Landwehrmeyer, G. B. & Squitieri, F., Nov 1 2018, In : The Lancet Neurology. 17, 11, p. 986-993 8 p.

Research output: Contribution to journalArticle

Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (Genetics in Medicine, (2018), 10.1038/s41436-018-0269-0)

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 30 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Saletti, V. & De Luca, A., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Evolution of HIV-1 transmitted drug resistance in Italy in the 2007–2014 period: A weighted analysis

Franzetti, M., De Luca, A., Ceccherini-Silberstein, F., Spagnuolo, V., Nicastri, E., Mussini, C., Antinori, A., Monno, L., Vecchiet, J., Fanti, I., d'Arminio Monforte, A. & Balotta, C., 2018, In : Journal of Clinical Virology. 106, p. 49-52 4 p.

Research output: Contribution to journalArticle

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Sep 7 2018, In : Genetics in Medicine. 10 p.

Research output: Contribution to journalArticle

First-line antiretroviral therapy with efavirenz plus tenofovir disiproxil fumarate/emtricitabine or rilpivirine plus tenofovir disiproxil fumarate/emtricitabine: a durability comparison

Taramasso, L., Di Biagio, A., Maggiolo, F., Tavelli, A., Lo Caputo, S., Bonora, S., Zaccarelli, M., Caramello, P., Costantini, A., Viscoli, C., d'Arminio Monforte, A., Cozzi-Lepri, A., Andreoni, M., Angarano, G., Antinori, A., Castelli, F., Cauda, R., Di Perri, G., Galli, M., Iardino, R. & 119 others, Ippolito, G., Lazzarin, A., Perno, C. F., von Schloesser, F., Viale, P., Castagna, A., Ceccherini-Silberstein, F., Girardi, E., Mussini, C., Puoti, M., Ammassari, A., Balotta, C., Bandera, A., Bonfanti, P., Borderi, M., Calcagno, A., Calza, L., Capobianchi, M. R., Cingolani, A., Cinque, P., De Luca, A., Gianotti, N., Gori, A., Guaraldi, G., Lapadula, G., Lichtner, M., Madeddu, G., Marchetti, G., Marcotullio, S., Monno, L., Nozza, S., Quiros Roldan, E., Rossotti, R., Rusconi, S., Santoro, M. M., Saracino, A., Fanti, I., Galli, L., Lorenzini, P., Rodano, A., Shanyinde, M., Carletti, F., Carrara, S., Di Caro, A., Graziano, S., Petrone, F., Prota, G., Quartu, S., Truffa, S., Giacometti, A., Valeriani, C., Santoro, C., Suardi, C., Donati, V., Verucchi, G., Minardi, C., Quirino, T., Abeli, C., Manconi, P. E., Piano, P., Cacopardo, B., Celesia, B., Vecchiet, J., Falasca, K., Sighinolfi, L., Segala, D., Mazzotta, F., Vichi, F., Cassola, G., Alessandrini, A., Bobbio, N., Mazzarello, G., Mastroianni, C., Belvisi, V., Caramma, I., Chiodera, A., Castelli, A. P., Rizzardini, G., Ridolfo, A. L., Piolini, R., Salpietro, S., Carenzi, L., Moioli, M. C., Tincati, C., Puzzolante, C., Abrescia, N., Chirianni, A., Borgia, G., Di Martino, F., Maddaloni, L., Gentile, I., Orlando, R., Baldelli, F., Francisci, D., Parruti, G., Ursini, T., Magnani, G., Ursitti, M. A., Vullo, V., Cristaudo, A., Baldin, G., Cicalini, S., Gallo, L., Nicastri, E., Acinapura, R., Capozzi, M., Libertone, R., Savinelli, S., Latini, A., Cecchetto, M., Viviani, F., Mura, M. S., Rossetti, B., Orofino, G. C., Sciandra, M., Bassetti, M., Londero, A., Pellizzer, G. & Manfrin, V., 2018, In : HIV Medicine. 19, 7, p. 475-484 10 p.

Research output: Contribution to journalArticle

Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease

Rosati, J., Bidollari, E., Rotundo, G., Ferrari, D., Torres, B., Bernardini, L., Consoli, F., De Luca, A., Santimone, I., Lamorte, G., Squitieri, F. & Vescovi, A. L., Mar 1 2018, In : Stem Cell Research. 27, p. 86-89 4 p.

Research output: Contribution to journalArticle

Genetics of rotator cuff tears: No association of col5a1 gene in a case-control study

Longo, U. G., Margiotti, K., Petrillo, S., Rizzello, G., Fusilli, C., Maffulli, N., De Luca, A. & Denaro, V., Dec 20 2018, In : BMC Medical Genetics. 19, 1, 217.

Research output: Contribution to journalArticle

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Koczkowska, M., Chen, Y., Callens, T., Gomes, A., Sharp, A., Johnson, S., Hsiao, M. C., Chen, Z., Balasubramanian, M., Barnett, C. P., Becker, T. A., Ben-Shachar, S., Bertola, D. R., Blakeley, J. O., Burkitt-Wright, E. M. M., Callaway, A., Crenshaw, M., Cunha, K. S., Cunningham, M., D'Agostino, M. D. & 55 others, Dahan, K., De Luca, A., Destrée, A., Dhamija, R., Eoli, M., Evans, D. G. R., Galvin-Parton, P., George-Abraham, J. K., Gripp, K. W., Guevara-Campos, J., Hanchard, N. A., Hernández-Chico, C., Immken, L. D., Janssens, S., Jones, K. J., Keena, B. A., Kochhar, A., Liebelt, J., Martir-Negron, A., Mahoney, M. J., Maystadt, I., McDougall, C., McEntagart, M., Mendelsohn, N., Miller, D. T., Mortier, G., Morton, J., Pappas, J., Plotkin, S. R., Pond, D., Rosenbaum, K., Rubin, K., Russell, L., Rutledge, L. S., Saletti, V., Schonberg, R., Schreiber, A., Seidel, M., Siqveland, E., Stockton, D. W., Trevisson, E., Ullrich, N. J., Upadhyaya, M., van Minkelen, R., Verhelst, H., Wallace, M. R., Yap, Y. S., Zackai, E., Zonana, J., Zurcher, V., Claes, K., Martin, Y., Korf, B. R., Legius, E. & Messiaen, L. M., Jan 4 2018, In : American Journal of Human Genetics. 102, 1, p. 69-87 19 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 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