1989 …2020

Research output per year

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Research Output

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

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

International 22q11.2 Brain and Behavior Consortium, 2019, In : American Journal of Human Genetics. 106, 1, p. 26-40 15 p.

Research output: Contribution to journalArticle

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

Kragesteen, B. K., Brancati, F., Digilio, M. C., Mundlos, S. & Spielmann, M., Apr 2019, In : Journal of Medical Genetics. 56, 4, p. 246-251 6 p.

Research output: Contribution to journalArticle

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice

Mastromoro, G., Calcagni, G., Versacci, P., Putotto, C., Chinali, M., Lambiase, C., Unolt, M., Pelliccione, E., Anaclerio, S., Caprio, C., Cioffi, S., Bilio, M., Baban, A., Drago, F., Digilio, M. C., Marino, B. & Baldini, A., Apr 1 2019, In : PLoS One. 14, 4, p. e0211170

Research output: Contribution to journalArticle

Novel clinical features associated with Clouston syndrome

Cammarata-Scalisi, F., Rinelli, M., Pisaneschi, E., Diociaiuti, A., Willoughby, C. E., Avendaño, A., Digilio, M. C., Novelli, A. & Callea, M., Jun 5 2019, In : International Journal of Dermatology.

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, 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

2018

Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries

Sabbaghian, N., Digilio, M. C., Blue, G. M., Revil, T., Winlaw, D. S. & Foulkes, W. D., May 2018, In : Congenital Heart Disease. 13, 3, p. 401-406 6 p.

Research output: Contribution to journalArticle

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

Digilio, M. C., Pugnaloni, F., De Luca, A., Calcagni, G., Baban, A., Dentici, M. L., Versacci, P., Dallapiccola, B., Tartaglia, M. & Marino, B., May 3 2018, In : Clinical Genetics.

Research output: Contribution to journalReview article

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

Cardiovascular disease in Down syndrome

Versacci, P., Di Carlo, D., Digilio, M. C. & Marino, B., Oct 2018, In : Current Opinion in Pediatrics. 30, 5, p. 616-622 7 p.

Research output: Contribution to journalArticle

Cardiovascular disease in Noonan syndrome

Pierpont, M. E. & Digilio, M. C., Oct 2018, In : Current Opinion in Pediatrics. 30, 5, p. 601-608 8 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., Jan 1 2018, In : International Journal of Molecular Sciences. 19, 1, 82.

Research output: Contribution to journalArticle

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies

Calcagni, G., Adorisio, R., Martinelli, S., Grutter, G., Baban, A., Versacci, P., Digilio, M. C., Drago, F., Gelb, B. D., Tartaglia, M. & Marino, B., Apr 2018, In : Heart Failure Clinics. 14, 2, p. 225-235 11 p.

Research output: Contribution to journalReview article

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

Unolt, M., Versacci, P., Anaclerio, S., Lambiase, C., Calcagni, G., Trezzi, M., Carotti, A., Crowley, T. B., Zackai, E. H., Goldmuntz, E., Gaynor, J. W., Digilio, M. C., McDonald-McGinn, D. M. & Marino, B., Oct 2018, In : American Journal of Medical Genetics, Part A. 176, 10, p. 2087-2098 12 p.

Research output: Contribution to journalReview article

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

Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1

Schirwani, S., Novelli, A., Digilio, M. C., Bourn, D., Wilson, V., Roberts, C., Dallapiccola, B. & Hobson, E., Jul 23 2018, In : European Journal of Medical Genetics.

Research output: Contribution to journalReview article

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

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

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

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

University of Washington Center for Mendelian Genomics, Feb 1 2018, In : American Journal of Human Genetics. 102, 2, p. 309-320 12 p.

Research output: Contribution to journalArticle

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

Pascolini, G., Agolini, E., Majore, S., Novelli, A., Grammatico, P. & Digilio, M. C., May 2018, In : European Journal of Paediatric Neurology. 22, 3, p. 552-557 6 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

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

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

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome

Unolt, M., Barry, J., Digilio, M. C., Marino, B., Bassett, A., Oechslin, E., Low, D. W., Belasco, J. B., Kallish, S., Sullivan, K., Zackai, E. H. & McDonald-McGinn, D. M., Jul 2018, In : European Journal of Medical Genetics. 61, 7, p. 411-415 5 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

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, S., Stuart, H. M., Chandler, K. E., Roberts, N. A., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Davalillo, C. H., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K. & 21 others, Langlois, S., Lennon, R., Loget, P., Ma, D. Y. T., McGowan, R., Des Medt, M., O'Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., Woolf, A. S., Banka, S. & Study, T. DDD., Dec 7 2017, In : American Journal of Human Genetics. 101, 6, p. 1021-1033 13 p.

Research output: Contribution to journalArticle

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, S., Stuart, H. M., Chandler, K. E., Roberts, N. A., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Davalillo, C. H., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K. & 21 others, Langlois, S., Lennon, R., Loget, P., Ma, D. Y. T., McGowan, R., Des Medt, M., O'Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., Woolf, A. S., Banka, S. & The DDD Study, Dec 7 2017, In : American Journal of Human Genetics. 101, 6, p. 1021-1033 13 p.

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

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 molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature

Fischetto, R., Palumbo, O., Ortolani, F., Palumbo, P., Leone, M. P., Causio, F. A., Pesce, S., Digilio, M. C., Carella, M. & Papadia, F., Jul 1 2017, In : American Journal of Medical Genetics, Part A. 173, 7, p. 1922-1930 9 p.

Research output: Contribution to journalArticle

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature

Fischetto, R., Palumbo, O., Ortolani, F., Palumbo, P., Leone, M. P., Causio, F. A., Pesce, S., Digilio, M. C., Carella, M. & Papadia, F., Apr 13 2017, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle