• 86 Citations
  • 3 h-Index
20172019
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Research Output 2017 2019

  • 86 Citations
  • 3 h-Index
  • 9 Article
  • 1 Review article
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

Premature Aging
Cell Aging
Histones
Chromatin
DNA Packaging
2018

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

Muto, V., Flex, E., Kupchinsky, Z., Primiano, G., Galehdari, H., Dehghani, M., Cecchetti, S., Carpentieri, G., Rizza, T., Mazaheri, N., Sedaghat, A., Mehrjardi, M. Y. V., Traversa, A., Di Nottia, M., Kousi, M. M., Jamshidi, Y., Ciolfi, A., Caputo, V., Malamiri, R. A., Pantaleoni, F. & 11 others, Martinelli, S., Jeffries, A. R., Zeighami, J., Sherafat, A., Di Giuda, D., Shariati, G. R., Carrozzo, R., Katsanis, N., Maroofian, R., Servidei, S. & Tartaglia, M., 2018, In : Neurology. 91, 4, p. E319-E330

Research output: Contribution to journalArticle

Cerebellum
Exome
Autophagy
Zebrafish
Mutation

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

Muto, V., Flex, E., Kupchinsky, Z., Primiano, G., Galehdari, H., Dehghani, M., Cecchetti, S., Carpentieri, G., Rizza, T., Mazaheri, N., Sedaghat, A., Vahidi Mehrjardi, M. Y., Traversa, A., Di Nottia, M., Kousi, M. M., Jamshidi, Y., Ciolfi, A., Caputo, V., Malamiri, R. A., Pantaleoni, F. & 11 others, Martinelli, S., Jeffries, A. R., Zeighami, J., Sherafat, A., Di Giuda, D., Shariati, G. R., Carrozzo, R., Katsanis, N., Maroofian, R., Servidei, S. & Tartaglia, M., Jul 24 2018, In : Neurology. 91, 4, p. e319-e330

Research output: Contribution to journalArticle

Cerebellum
Exome
Autophagy
Zebrafish
Neurodegenerative Diseases

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., 2018, In : Heart Failure Clinics. 14, 2, p. 225-235 11 p.

Research output: Contribution to journalArticle

Hypertrophic Cardiomyopathy
Heart Failure
Congenital Heart Defects
Sirolimus
Mutation

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

Hypertrophic Cardiomyopathy
Heart Failure
Congenital Heart Defects
Sirolimus
Mutation

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

Phenotype
Mutation
Noonan Syndrome
Exome
Monomeric GTP-Binding Proteins

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Martinelli, S., Krumbach, O. H. F., Pantaleoni, F., Coppola, S., Amin, E., Pannone, L., Nouri, K., Farina, L., Dvorsky, R., Lepri, F., Buchholzer, M., Konopatzki, R., Walsh, L., Payne, K., Pierpont, M. E., Vergano, S. S., Langley, K. G., Larsen, D., Farwell, K. D., Tang, S. & 29 others, Mroske, C., Gallotta, I., Di Schiavi, E., della Monica, M., Lugli, L., Rossi, C., Seri, M., Cocchi, G., Henderson, L., Baskin, B., Alders, M., Mendoza-Londono, R., Dupuis, L., Nickerson, D. A., Chong, J. X., Meeks, N., Brown, K., Causey, T., Cho, M. T., Demuth, S., Digilio, M. C., Gelb, B. D., Bamshad, M. J., Zenker, M., Ahmadian, M. R., Hennekam, R. C., Tartaglia, M., Mirzaa, G. M. & Genomics, T. U. O. W. C. F. M., 2018, In : American Journal of Human Genetics. 102, 2, p. 309-320 12 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Noonan Syndrome
Exome
Monomeric GTP-Binding Proteins
2017
64 Citations (Scopus)

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., Dobrzeniecka, S., Meloche, C., Retterer, K., Cho, M. T., Rosenfeld, J. A., Bi, W., Massicotte, C., Miguet, M., Brunga, L., Regan, B. M. & 30 others, Mo, K., Tam, C., Schneider, A., Hollingsworth, G., FitzPatrick, D. R., Donaldson, A., Canham, N., Blair, E., Kerr, B., Fry, A. E., Thomas, R. H., Shelagh, J., Hurst, J. A., Brittain, H., Blyth, M., Lebel, R. R., Gerkes, E. H., Davis-Keppen, L., Stein, Q., Chung, W. K., Dorison, S. J., Benke, P. J., Fassi, E., Corsten-Janssen, N., Kamsteeg, E-J., Mau-Them, F. T., Martinelli, S., Dallapiccola, B., Tartaglia, M. & Nava, C., 2017, In : American Journal of Human Genetics. 101, 5, p. 664-685 22 p.

Research output: Contribution to journalArticle

Brain Diseases
Mutation
Intellectual Disability
Genome
Genes
11 Citations (Scopus)

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Pannone, L., Bocchinfuso, G., Flex, E., Rossi, C., Baldassarre, G., Lissewski, C., Pantaleoni, F., Consoli, F., Lepri, F., Magliozzi, M., Anselmi, M., Delle Vigne, S., Sorge, G., Karaer, K., Cuturilo, G., Sartorio, A., Tinschert, S., Accadia, M., Digilio, M. C., Zampino, G. & 9 others, De Luca, A., Cavé, H., Zenker, M., Gelb, B. D., Dallapiccola, B., Stella, L., Ferrero, G. B., Martinelli, S. & Tartaglia, M., 2017, In : Human Mutation. 38, 4, p. 451-459 9 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Codon
Mutation
SH2 Domain-Containing Protein Tyrosine Phosphatases
Protein Tyrosine Phosphatases
11 Citations (Scopus)

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Pannone, L., Bocchinfuso, G., Flex, E., Rossi, C., Baldassarre, G., Lissewski, C., Pantaleoni, F., Consoli, F., Lepri, F., Magliozzi, M., Anselmi, M., Delle Vigne, S., Sorge, G., Karaer, K., Cuturilo, G., Sartorio, A., Tinschert, S., Accadia, M., Digilio, M. C., Zampino, G. & 9 others, De Luca, A., Cavé, H., Zenker, M., Gelb, B. D., Dallapiccola, B., Stella, L., Ferrero, G. B., Martinelli, S. & Tartaglia, M., Apr 2017, In : Human Mutation. 38, 4, p. 451-459 9 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Codon
Mutation
SH2 Domain-Containing Protein Tyrosine Phosphatases
Protein Tyrosine Phosphatases