Tartaglia, Marco

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

Carvajal-Vergara, X., Sevilla, A., D’Souza, S. L., Ang, Y.-S., Schaniel, C., Lee, D.-F., Yang, L., Kaplan, A. D., Adler, E. D., Rozov, R., et al. (2010) · Nature

Pluripotent Stem Cells ResearchCongenital heart defects research

Cited by 690

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., et al. (2017) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 445

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

Tartaglia, M., Martinelli, S., Stella, L., Bocchinfuso, G., Flex, E., Cordeddu, V., Zampino, G., van der Burgt, I., Palleschi, A., Petrucci, T. C., et al. (2006) · The American Journal of Human Genetics

Protein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

Cited by 415

NOONAN SYNDROME AND RELATED DISORDERS: Genetics and Pathogenesis

Tartaglia, M., & Gelb, B. D. (2005) · Annual Review of Genomics and Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 355

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., Cordeddu, V., Lepri, F., et al. (2009) · Human Mutation

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 303

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype

Martinelli, S., De Luca, A., Stellacci, E., Rossi, C., Checquolo, S., Lepri, F., Caputo, V., Silvano, M., Buscherini, F., Consoli, F., et al. (2010) · The American Journal of Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 259

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

Viel, A., Bruselles, A., Meccia, E., Fornasarig, M., Quaia, M., Canzonieri, V., Policicchio, E., Urso, E. D., Agostini, M., Genuardi, M., et al. (2017) · EBioMedicine

Genetic factors in colorectal cancerCancer Genomics and Diagnostics

Cited by 217

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade

Cesarini, L., Alfieri, P., Pantaleoni, F., Vasta, I., Cerutti, M., Petrangeli, V., Mariotti, P., Leoni, C., Ricci, D., Vicari, S., et al. (2009) · American Journal of Medical Genetics Part A

Protein Tyrosine PhosphatasesGenetics and Neurodevelopmental Disorders

Cited by 98

CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells

Manic, G., Signore, M., Sistigu, A., Russo, G., Corradi, F., Siteni, S., Musella, M., Vitale, S., De Angelis, M. L., Pallocca, M., et al. (2018) · Gut

Cancer Cells and MetastasisColorectal Cancer Treatments and Studies

Cited by 98

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations

Oishi, K., Gaengel, K., Krishnamoorthy, S., Kamiya, K., Kim, I.-K., Ying, H., Weber, U., Perkins, L. A., Tartaglia, M., Mlodzik, M., et al. (2006) · Human Molecular Genetics

Protein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

Cited by 81

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation

Epigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders

Cited by 76

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Vissers, L. E., Bonetti, M., Paardekooper Overman, J., Nillesen, W. M., Frints, S. G. M., de Ligt, J., Zampino, G., Justino, A., Machado, J. C., Schepens, M., et al. (2015) · European Journal of Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 75

Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment

Nurchis, M. C., Altamura, G., Riccardi, M. T., Radio, F. C., Chillemi, G., Bertini, E. S., Garlasco, J., Tartaglia, M., Dallapiccola, B., & Damiani, G. (2023) · Archives of Public Health

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 65

Cancer Stem Cell-Based Models of Colorectal Cancer Reveal Molecular Determinants of Therapy Resistance

De Angelis, M. L., Zeuner, A., Policicchio, E., Russo, G., Bruselles, A., Signore, M., Vitale, S., De Luca, G., Pilozzi, E., Boe, A., et al. (2016) · Stem Cells Translational Medicine

Cancer Cells and MetastasisColorectal Cancer Treatments and Studies

Cited by 60

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., Abidi, F. E., Anderson, A., Ansar, M., Antonarakis, S. E., Azadi, A., Bachmann-Gagescu, R., et al. (2023) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 21