• 738 Citations
  • 17 h-Index
20072019
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Fingerprint Dive into the research topics where Bartolomeo Augello is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Williams Syndrome Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Ubiquitin-Protein Ligases Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Proteins Medicine & Life Sciences
Cell Line Medicine & Life Sciences

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Research Output 2007 2019

  • 738 Citations
  • 17 h-Index
  • 40 Article
  • 1 Comment/debate

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

Malerba, N., Benzoni, P., Squeo, G. M., Milanesi, R., Giannetti, F., Sadleir, L. G., Poke, G., Augello, B., Croce, A. I., Barbuti, A. & Merla, G., Oct 1 2019, In : Stem Cell Research. 40, 101547.

Research output: Contribution to journalArticle

Open Access
Clustered Regularly Interspaced Short Palindromic Repeats
Induced Pluripotent Stem Cells
Cell Line
Germ Layers
Preclinical Drug Evaluations
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
3 Citations (Scopus)

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

Lymphocytes
mutations
Nucleotides
Chromatin
Blood

Correction to: MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences (Leukemia, (2018), 32, 10, (2152-2166), 10.1038/s41375-018-0033-0)

L’Abbate, A., Tolomeo, D., Cifola, I., Severgnini, M., Turchiano, A., Augello, B., Squeo, G., D’Addabbo, P., Traversa, D., Daniele, G., Lonoce, A., Pafundi, M., Carella, M., Palumbo, O., Dolnik, A., Muehlematter, D., Schoumans, J., Van Roy, N., De Bellis, G., Martinelli, G. & 4 others, Merla, G., Bullinger, L., Haferlach, C. & Storlazzi, C. T., Oct 1 2018, In : Leukemia. 32, 10, 1 p.

Research output: Contribution to journalComment/debate

Acute Myeloid Leukemia
Italy
Leukemia
Medicine
Sodium Glutamate
3 Citations (Scopus)

Dissecting KMT2D missense mutations in Kabuki syndrome patients

Cocciadiferro, D., Augello, B., De Nittis, P., Zhang, J., Mandriani, B., Malerba, N., Squeo, G. M., Romano, A., Piccinni, B., Verri, T., Micale, L., Pasqualucci, L. & Merla, G., Jan 1 2018, In : Human Molecular Genetics. 27, 21, p. 3651-3668 18 p.

Research output: Contribution to journalArticle

Missense Mutation
Germ-Line Mutation
Methyltransferases
Intellectual Disability
Histones