• 5202 Citations
  • 38 h-Index
20002019
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Fingerprint Dive into the research topics where Francesco Brancati is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Cilia Medicine & Life Sciences
Tooth Medicine & Life Sciences
Exons Medicine & Life Sciences
Syndactyly Medicine & Life Sciences
Parkinsonian Disorders Medicine & Life Sciences

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Research Output 2000 2019

  • 5202 Citations
  • 38 h-Index
  • 128 Article

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G., Torres, B., Koetting, J., Splendiani, A., Postorivo, D., Beygo, J., Garaci, F. G., Malan, V., Lüdecke, H-J., Guida, V., Krumbiegel, M., Lonardo, F., Novelli, A., Albrecht, B., Perria, C. & 6 others, Scarano, G., Spielmann, M., Nardone, A. M., Battaglia, A., Brancati, F. & Bernardini, L., 2019, In : Clinical Genetics.

Research output: Contribution to journalArticle

Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes

Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G., Torres, B., Koetting, J., Splendiani, A., Postorivo, D., Beygo, J., Garaci, F. G., Malan, V., Hermann-Josef-Lüdecke, Guida, V., Krumbiegel, M., Lonardo, F., Novelli, A., Albrecht, B., Perria, C. & 6 others, Scarano, G., Spielmann, M., Nardone, A., Battaglia, A., Brancati, F. & Bernardini, L., May 15 2019, In : Clinical Genetics.

Research output: Contribution to journalArticle

Genomic Segmental Duplications
Microcephaly
Brain
Intellectual Disability
Nervous System

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
1 Citation (Scopus)

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

Multiple Hereditary Exostoses
Genetic Association Studies
Osteochondroma
Cell Cycle Proteins
Heparitin Sulfate

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

Castori, M., Ott, C-E., Bisceglia, L., Leone, M. P., Mazza, T., Castellana, S., Tomassi, J., Lanciotti, S., Mundlos, S., Hennekam, R. C., Kornak, U. & Brancati, F., Sep 1 2018, In : American Journal of Medical Genetics, Part A. 176, 9, p. 2028-2033 6 p.

Research output: Contribution to journalArticle

Cadherins
Mutation
Water
Genes
Exome