• 9134 Citations
  • 49 h-Index
1989 …2019
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Fingerprint Dive into the research topics where Maria Cristina Digilio is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 33 Similar Profiles
Congenital Heart Defects Medicine & Life Sciences
DiGeorge Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Noonan Syndrome Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
LEOPARD Syndrome Medicine & Life Sciences
Down Syndrome Medicine & Life Sciences

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Research Output 1989 2019

  • 9134 Citations
  • 49 h-Index
  • 348 Article
  • 10 Chapter
  • 5 Review article
  • 1 Letter

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., 2019, In : Clinical Genetics. 95, 2, p. 268-276 9 p.

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
Neurofibroma
Neurofibromatosis 1
Plexiform Neurofibroma
Optic Nerve Glioma
Cardiovascular Abnormalities
Brain Diseases
Nervous System Malformations
Exome
Mutation
Intellectual Disability

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

Clustered Regularly Interspaced Short Palindromic Repeats
Forelimb
Genomic Structural Variation
Extremities
Housekeeping