Paola Grammatico

ScholarGPS® ID: 67214433513581

Affiliation

San Camillo-Forlanini Hospital, Italy

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

279

Predicted Citations

7,618

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

Add Delete
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? (journal article) Bottillo, Irene \| Laino, Luigi \| Azzarà, Alessia \| Lintas, Carla \| Cassano, Ilaria \| Di Lazzaro, Vincenzo \| Ursini, Francesca \| Motolese, Francesco \| Bargiacchi, Simone \| Formicola, Daniela \| ... \| Gurrieri, Fiorella Frontiers in Neuroscience, volume 17 (2024). 10.3389/fnins.2023.1304080 Cite \| Source
Myelodysplastic clones arising post chimeric antigen receptor t cell therapy (car-t) procedure: a casuality or a new entity? (journal article) Di Rocco, Alice \| Di Palma, Martina \| D’Elia, Gianna Maria \| Iaquinta, Giovanni \| Breccia, Massimo \| Mancini, Francesca \| Grammatico, Paola \| Martelli, Maurizio Annals of Hematology, volume 102, issue 10, pages 2963-2964 (2023). 10.1007/s00277-023-05329-9 Cite \| Source
CCND2 mutations in atypical chronic myeloid leukemia: a report of two cases (journal article) Iaquinta, Giovanni \| Scalzulli, Emilia \| Angeloni, Silvia \| Carmosino, Ida \| Costa, Alessandro \| Ielo, Claudia \| Passucci, Mauro \| Masucci, Chiara \| Martelli, Maurizio \| Grammatico, Paola \| Breccia, Massimo Leukemia & Lymphoma, volume 64, issue 10, pages 1730-1732 (2023). 10.1080/10428194.2023.2232495 Cited by (2) \| Cite \| Source
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? (journal article) Bottillo, Irene \| Savino, Emanuele \| Majore, Silvia \| Mulargia, Claudia \| Valiante, Michele \| Ferraris, Alessandro \| Rossi, Valentina \| Svegliati, Francesca \| Ciccone, Maria Pia \| Brusco, Francesca \| ... \| Grammatico, Paola European Journal of Human Genetics, volume 31, issue 4, pages 474-478 (2023). 10.1038/s41431-022-01270-z Cited by (3) \| Cite \| Source
Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling (journal article) Colombo, Elisa Adele \| Valiante, Michele \| Uggeri, Matteo \| Orro, Alessandro \| Majore, Silvia \| Grammatico, Paola \| Gentilini, Davide \| Finelli, Palma \| Gervasini, Cristina \| D’Ursi, Pasqualina \| Larizza, Lidia International Journal of Molecular Sciences, volume 24, issue 4, pages 4028- (2023). 10.3390/ijms24044028 Cited by (2) \| Cite \| Source
Molecular and Genetic Mechanisms of Hepatocellular Carcinoma (book chapter) In Hepatocellular Carcinoma Valiante, Michele \| Grammatico, Paola Springer International Publishing (2023) 10.1007/978-3-031-09371-5_2 Cited by (2) \| Cite \| Source
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2? (journal article) Di Giosaffatte, Niccolò \| Ferraris, Alessandro \| Gaudioso, Federica \| Lodato, Valentina \| Savino, Emanuele \| Celletti, Claudia \| Camerota, Filippo \| Bargiacchi, Simone \| Laino, Luigi \| Majore, Silvia \| ... \| Grammatico, Paola Genes, volume 13, issue 12, pages 2358- (2022). 10.3390/genes13122358 Cited by (4) \| Cite \| Source
First Italian experience using the automated craniofacial gestalt analysis on a cohort of pediatric patients with multiple anomaly syndromes (journal article) Pascolini, Giulia \| Calvani, Mauro \| Grammatico, Paola Italian Journal of Pediatrics, volume 48, issue 1 (2022). 10.1186/s13052-022-01283-w Cited by (3) \| Cite \| Source
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations (journal article) Lintas, Carla \| Bottillo, Irene \| Sacco, Roberto \| Azzarà, Alessia \| Cassano, Ilaria \| Ciccone, Maria Pia \| Grammatico, Paola \| Gurrieri, Fiorella Genes, volume 13, issue 12, pages 2266- (2022). 10.3390/genes13122266 Cite \| Source
Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants (journal article) D'Angelantonio, D. \| Majore, S. \| Di Netta, T. \| Zotta, F. \| Parise, G. \| Savino, E. \| Rosignoli, S. \| Bizzarri, B. \| Signore, F. \| Grammatico, P. \| Bottillo, I. Archives de Pédiatrie, volume 29, issue 7, pages 530-533 (2022). 10.1016/j.arcped.2022.08.011 Cited by (1) \| Cite \| Source
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders (journal article) Lintas, Carla \| Sacco, Roberto \| Azzarà, Alessia \| Cassano, Ilaria \| Laino, Luigi \| Grammatico, Paola \| Gurrieri, Fiorella Genes, volume 13, issue 10, pages 1685- (2022). 10.3390/genes13101685 Cited by (1) \| Cite \| Source
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report (journal article) Di Giosaffatte, Niccolò \| Valiante, Michele \| Tricarico, Stefano \| Parise, Giulia \| De Negri, Anna Maria \| Ricciotti, Guido \| Florean, Lara \| Paiardini, Alessandro \| Bottillo, Irene \| Grammatico, Paola Genes, volume 13, issue 7, pages 1268- (2022). 10.3390/genes13071268 Cited by (5) \| Cite \| Source
Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman (journal article) Di Giosaffatte, Niccolò \| Bottillo, Irene \| Laino, Luigi \| Iaquinta, Giovanni \| Ferraris, Alessandro \| Garzia, Mariagrazia \| Bargiacchi, Simone \| Mulargia, Claudia \| Angelitti, Maria Rosaria \| Palumbo, Fabiana \| ... \| Grammatico, Paola Prenatal Diagnosis, volume 42, issue 8, pages 1000-1003 (2022). 10.1002/pd.6158 Cited by (2) \| Cite \| Source
Clinical refinement of the SETD5 ‐associated phenotype in a child displaying novel features and KBG syndrome‐like appearance (journal article) Pascolini, Giulia \| Gnazzo, Maria \| Novelli, Antonio \| Grammatico, Paola American Journal of Medical Genetics Part A, volume 188, issue 5, pages 1623-1625 (2022). 10.1002/ajmg.a.62679 Cited by (3) \| Cite \| Source
A Novel CHEK2 Variant Identified by Next-Generation Sequencing in an Italian Family with Li-Fraumeni Syndrome: Case Report (journal article) Valiante, Michele \| Rizzolo, Piera \| Rinelli, Martina \| Gabrielli, Ivan \| Pirelli, Federica \| Agolini, Emanuele \| Corsi, Domenico \| Grammatico, Paola \| Novelli, Antonio \| Rongioletti, Mauro Ciro Antonio \| Bizzoco, Domenico SN Comprehensive Clinical Medicine, volume 4, issue 1 (2022). 10.1007/s42399-022-01158-5 Cite \| Source
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB (journal article) Pascolini, Giulia \| Passarelli, Chiara \| Lipari, Martina \| Chandramouli, Balasubramanian \| Chillemi, Giovanni \| Di Giosaffatte, Niccolo’ \| Novelli, Antonio \| Grammatico, Paola Clinical Genetics, volume 101, issue 3, pages 377-378 (2022). 10.1111/cge.14101 Cited by (1) \| Cite \| Source
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement (journal article) Micale, Lucia \| Morlino, Silvia \| Carbone, Annalucia \| Carissimo, Annamaria \| Nardella, Grazia \| Fusco, Carmela \| Palumbo, Orazio \| Schirizzi, Annalisa \| Russo, Federica \| Mazzoccoli, Gianluigi \| ... \| Castori, Marco Genetics in Medicine, volume 24, issue 2, pages 439-453 (2022). 10.1016/j.gim.2021.10.009 Cited by (1) \| Cite \| Source
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation (journal article) Pascolini, Giulia \| Gaudioso, Federica \| Passarelli, Chiara \| Novelli, Antonio \| Di Giosaffatte, Niccolò \| Majore, Silvia \| Grammatico, Paola Journal of Molecular Neuroscience, volume 71, issue 12, pages 2474-2481 (2021). 10.1007/s12031-021-01868-w Cited by (3) \| Cite \| Source
Comparison of Two Blood-Based Genotyping Tests to Investigate the KRAS G12C Mutation in Patients with Non-Small-Cell Lung Cancer at Failure of First-Line Treatments (journal article) Nicolazzo, Chiara \| Gelibter, Alain \| Bottillo, Irene \| Belardinilli, Francesca \| Pisegna, Simona \| De Renzi, Gianluigi \| Marinelli, Daniele \| Grammatico, Paola \| Cortesi, Enrico \| Giannini, Giuseppe \| Gazzaniga, Paola Diagnostics, volume 11, issue 12, pages 2196- (2021). 10.3390/diagnostics11122196 Cited by (3) \| Cite \| Source
1252P Liquid biopsy to track KRAS G12C mutation at progressive disease in patients with advanced non-small cell lung cancer (NSCLC) (journal article) De Renzi, G. \| Nicolazzo, C. \| Pisegna, S. \| Belardinilli, F. \| Bottillo, I. \| Grammatico, P. \| Giannini, G. \| Gelibter, A.J. \| Gazzaniga, P. Annals of Oncology, volume 32 (2021). 10.1016/j.annonc.2021.08.1856 Cite \| Source