Valentina Trevisan

@policlinicogemelli.it

Physician in Medical Genetics 1. Center for Rare Disease and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy.
Fondazione Policlinico Gemelli IRCCS

Valentina Trevisan


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https://researchid.co/valentina.trevisan
Since young age I have been driven by a deep curiosity in human health and a strong desire to make a difference in people’s life that led me to pursue a career in Medicine. During my last year of medical training, the clinical experience at the hematopoietic transplant unit at Ospedale Pediatrico Bambino Gesù allowed me to realize firsthand that the limitations in current treatments and gaps in scientific knowledge are overcome only through research. I have therefore started a research fellowship in clinical immunology at Great Ormond Street Hospital in London focusing on a gene therapy trial and complete a board certification in Medical Genetics in Italy afterwards. My latest study focused on solid tumours in a large monocentric cohort of RASopathy individuals was selected for oral presentation in two different conferences (RASopathy meeting in Berlin and SIGU 2024), where I had the honor of presenting our findings and received an award in recognition of our work (Premio Mia Neri)

EDUCATION

INSTITUTION AND LOCATION: Università Cattolica del Sacro Cuore – Campus di Roma
DEGREE: PhD candidate in Genetics Biomedical Sciences and Public Health
YEAR(s): 3 years, 2023- ongoing
FIELD OF STUDY: Human Genetics

INSTITUTION AND LOCATION: Università Cattolica del Sacro Cuore – Campus di Roma
DEGREE: Board certification in Medical Genetics
YEAR(s): 4 years, 2018-2022
FIELD OF STUDY: Human Genetics

INSTITUTION AND LOCATION: Università degli Studi di Pavia
DEGREE: Master’s degree in Medicine and Surgery – Harvey Course
YEAR(s): 6 years 2009-2015
FIELD OF STUDY: Medicine

RESEARCH, TEACHING, or OTHER INTERESTS

Genetics (clinical), Multidisciplinary, Molecular Medicine, Pediatrics, Perinatology and Child Health
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Scopus Publications

Scopus Publications

  • 9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
    Alessandro De Falco, Marie Vincent, Gaëlle Vieville, Marjolaine Gauthier, Klaus Dieterich, Charles Coutton, Sara Loddo, Antonio Novelli, Bruno Dallapiccola, Maria Cristina Digilio, Silvana Briuglia, Laura Bernardini, Paolo Fontana, Agnieszka Madej‐Pilarczyk, Marlena Młynek, Luigia De Falco, Fabio Acquaviva, Daniele De Brasi, Laurence Faivre, Lucie Dauver, Nouf Alnuaimi, Patrick Callier, Valentina Trevisan, Roberta Onesimo, Chiara Leoni, Giuseppe Zampino, Giovanni Neri, Geoffroy Delplancq, Laurence Perrin, Susan M. White, Renzo Guerrini, Davide Mei, Ilaria Sani, Marilena Pantaleo, Angela Peron, Nicola Brunetti‐Pierri
    American Journal of Medical Genetics Part A, 2026
    Copy number variants (CNV) are a major cause of neurodevelopmental disorders. Novel CNV syndromes may still be unrecognized. We report a 9q34.11 microduplication syndrome characterized by neurodevelopmental impairment and recurrent facial anomalies. Following the identification of a de novo 9q34.11 microduplication involving the SET and SPTAN1 genes in an 11‐year‐old girl with speech delay, intellectual disability, and behavioral abnormalities, we identified 13 additional patients with overlapping duplications. Besides the neurodevelopmental disorder, clinical features observed among affected individuals included recurrent dysmorphic features, such as midface hypoplasia and thin lips. The minimal region of overlap among these cases contained the SET gene, suggesting that its triplosensitivity may play a role in the observed phenotypes.
  • Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
    Niccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, Chiara Iacovino, Chiara Canciani, Maria Luisa Garau, Claudia Santoro, Valentina Trevisan, Arianna Panfili, Stefania Cavone, Valentina Guida, Maria Cecilia D'Asdia, Laura Bernardini, Silvia Majore, Alessandro Ferraris, Michele Valiante, Francesca Gensini, Francesca Clementina Radio, Giada Tortora, Matteo Cassina, Giuseppina Miele, Manuela Priolo, Fabio Sirchia, Ludovica Piccinno, Elisabetta Flex, Giuseppe Zampino, Maurizio Genuardi, Vincenzo Nigro, Leonardo Salviati, Laura Papi, Paola Grammatico, Chiara Leoni, Giulio Piluso, Sandra Giustini, Tommaso Mazza, Meena Upadhyaya, Marco Tartaglia, Eva Trevisson, Alessandro De Luca
    Breast, 2025
    AIM: To investigate clinical and molecular features of neurofibromatosis type 1 (NF1)-associated breast cancer (BC) in a large multicenter cohort. METHODS: Clinical and histopathological data from 86 NF1 patients with BC (69 with molecular data) were collected, and 111 published cases were reviewed. NF1 variants were assessed in silico, and their distribution across neurofibromin domains was compared with the general NF1 population. RESULTS: NF1 patients developed BC earlier than the general population (mean 49 years), with missense variant heterozygotes showing the earliest onset (43.9 vs. 49.5 years for truncating variants, p = 0.014). Tumors were frequently high-grade (49 %), HER2-enriched (31 %) or luminal B subtypes (31 %), with reduced luminal A (28 %) frequency. NF1+BC patients had more subcutaneous (p = 0.006) and plexiform neurofibromas (p < 0.00001). Compared with the general NF1 population, they lacked large deletions (0 % vs. 3 %, p = 0.0148), showed enrichment for N-HEAT missense variants (70 % vs. 42 %; p = 0.0078), and carried recurrent variants significantly enriched in NF1+BC. Structural modeling predicted deleterious effects for >70 % of variants, with proline/arginine substitutions accounting for 83 % of missense variants (vs. 44 % in the general NF1 population, p = 0.0012). CONCLUSIONS: NF1-associated BC is characterized by earlier onset, aggressive tumor features, and distinct mutational patterns.
  • Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype
    Iacopo Bellani, Valentina Trevisan, Germana Viscogliosi, Maria Grazia Pomponi, Pietro Chiurazzi, et al.
    Clinical Genetics, 2025
    Accurately diagnosing Beckwith-Wiedemann syndrome (BWS) in twins with discordant phenotypes is essential for personalized oncological monitoring and management. It is advisable to test both twins, even without phenotypic expression, and incorporate prenatal factors like assisted reproduction technologies and twin pregnancies into the diagnostic BWS scoring system.
  • Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen
    Sofia Peschiaroli, Germana Viscogliosi, Annabella Salerni, Emanuele Crincoli, Roberta Mattei, Tommaso Verdolotti, Serafina Antonella Loprete, Valentina Trevisan, Giovanni Antonio Marrocco, Alessia Cherubino, Lucrezia Perri, Roberta Onesimo, Giuseppe Zampino, Chiara Leoni
    American Journal of Medical Genetics Part A, 2025
    Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available. In this article, we describe the main ophthalmic anomalies and MRI findings in a large cohort of CS patients and compare our data with theliterature. 21 individuals with CS were enrolled and performedvisual acuity and refractive error assessment, intraocular pressure (IOP) evaluation, ocular motility examination, anterior segment inspection, fundus examination, macular optical coherence and corneal tomography, and brain MRI with the measurement of optic nerve thickness. A high prevalence of refractive errors was observed (90%), amblyopia, with best‐corrected visual acuity below 20/40 in at least one eye in all assessed cases. Strabismus was also described in the present cohort (95%), with exotropia, esotropia, and hypertropia equally present. Moreover, 66.7% of our patients presented nystagmus. OCT was normal in all cases performed (6). Eighteen individuals underwent brain MRI, and 63% of them showed an altered optic nerve thickness. We described for the first time to date bilateral optic nerve thickness reduction assessed through MRI in CS. Moreover, in our cohort, we detect a high prevalence of amblyopia, refractive errors, and nystagmus across all ages. These findings support the implementation of an early ophthalmologic assessment and management in patients with CS to prevent deterioration of visual functions; therefore, improving overall quality of life.
  • Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy
    Federica Francesca L’Erario, Annalisa Gazzellone, Ilaria Contaldo, Chiara Veredice, Marina Carapelle, Anna Gloria Renzi, Clarissa Modafferi, Marta Palucci, Pino D’Ambrosio, Elena Sonnini, Lorenzo Loberti, Arianna Panfili, Emanuela Lucci Cordisco, Pietro Chiurazzi, Valentina Trevisan, Chiara Leoni, Giuseppe Zampino, Maria Grazia Pomponi, Daniela Orteschi, Marcella Zollino, Giuseppe Marangi
    Genes, 2025
    Background: Macrocephaly can be a component manifestation of several monogenic conditions, in association with intellectual disability/developmental delay (ID/DD) behaviour abnormalities, including autism spectrum disorders (ASD), and variable additional features. On the other hand, idiopathic ASD can present with developmental delay and macrocephaly. Methods: We carried out a retrospective analysis of a cohort of 78 patients who were tested from February 2017 to December 2024 by high-throughput sequencing of a panel of 27 genes (ABCC9, AKT1, AKT2, AKT3, BRWD3, DIS3L2, DNMT3A, EZH2, GPC3, GPC4, HERC1, MED12, MTOR, NFIA, NFIX, NSD1, PDGFRB, PIK3CA, PIK3R1, PIK3R2, PPP2R1A, PPP2R5D, PTEN, RAB39B, RNF135, SETD2, and TBC1D7) because of neurodevelopmental impairment, including ID/DD, ASD/behaviour abnormalities associated with macrocephaly, mimicking to a large extent idiopathic ASD. Results: Pathogenic variants leading to the diagnosis of monogenic conditions were detected in 22 patients (28%), including NSD1 (2), PTEN (16), and PPP2R5D (4). Distinctive of the PTEN-associated phenotype were true macrocephaly (100%), ASD or behaviour abnormalities (92%), mild/borderline ID (79%), and no facial dysmorphisms. Typical of the PPP2R5D-associated phenotype were relative macrocephaly (75%), a few unspecific peculiar facial characteristics (50%), and a more variable presentation of the neurodevelopmental phenotype. Conclusions: Pathogenic variants in PTEN and PPP2R5D are the most recurrent gene mutations in a patient-oriented procedure for the genetic diagnosis of apparently idiopathic ASD and behaviour abnormalities associated with macrocephaly. The clinical applicability of the presented diagnostic strategy is discussed.
  • Parenting Stress Index in Caregivers of Individuals With Noonan Syndrome
    Lucrezia Perri, Germana Viscogliosi, Valentina Trevisan, Claudia Brogna, Daniela Pia Rosaria Chieffo, Ilaria Contaldo, Paolo Alfieri, Nicolo’ Lentini, Roberta Pastorino, Giuseppe Zampino, Chiara Leoni
    American Journal of Medical Genetics Part B Neuropsychiatric Genetics, 2025
    Medical professionals frequently underestimate stress level of parents/caregivers of patients with rare disorders as RASopathies, the latter might experience elevated stress levels, with their own health frequently overlooked despite significant responsibilities and hurdles encountered. The aim of this study is to assess the stress experienced by parents of individuals with Noonan syndrome and related conditions. Forty‐eight parents (20 fathers; 28 mothers), among the 31 recruited families, completed the Italian version of the Parenting Stress Index–Short Form. Our study shows abnormally elevated scores (≥ 85° percentile) in 35.4% of parents. Data retrieved from subscales reveal a perception of a difficult child in 25% of cases, a dysfunctional parental‐child interaction in 20.8%, a general parental distress in 10.4% of cases, and an elevated overall stress in 18.8% of parents. Questionnaires as the Parenting Stress Index–Short Form are valuable tools to evaluate stress in parents/caregivers of children with RASopathies. Evaluation by professionals is fundamental to support parents and caregivers in managing stressors and to enhance their quality of life and relationships. To prevent stress escalation and parents' burnout, an early assessment to tailor a timely treatment should be introduced as soon as possible as good clinical practice.
  • Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort
    Benedetta Elena Di Majo, Chiara Leoni, Eleonora Cartisano, Chiara Fossati, Germana Viscogliosi, Valentina Trevisan, Lucia Pia Bruno, Francesca Conti, Mattia Moratti, Emilia Monaco, Donato Rigante, Beatrice Rivalta, Caterina Cancrini, Aleksandra Szczawińska-Popłonyk, Aleksander Jamsheer, Monika Obara-Moszyńska, Viktoria Zakharova, Anna Shcherbina, Julija Rodina, Beyhan Tüysüz, Saumya Shekhar Jamuar, Jiin Ying Lim, Jeannette Goh, Anna Cereda, Teresa Agovino, Ilaria Contaldo, Maria Luigia Gambardella, Adriana Cristina Balduzzi, Alessia Cherubino, Giovanni Antonio Marrocco, Silvia Bellesi, Valentina Carusi, Gabriele Rumi, Andrea Biondi, Giuseppe Zampino, Francesco Saettini
    Frontiers in Immunology, 2025
    IntroductionCardiofaciocutaneous syndrome (CFCS) is a rare syndromic disorder caused by germline mutations affecting the RAS/MAPK pathway. It is characterized by distinctive craniofacial dysmorphism, congenital heart defects, skin abnormalities, gastrointestinal dysfunction, neurocognitive impairment, and epilepsy. Emerging evidence suggests an association with hypogammaglobulinemia, but a comprehensive characterization of immunological abnormalities in CFCS is lacking.MethodsWe conducted a retrospective, multicenter observational study to investigate the immunological phenotype of CFCS. Clinical features, immune-related manifestations, and laboratory parameters were analyzed to delineate the immunological profile of affected individuals.ResultsA total of 56 patients with a confirmed clinical and molecular diagnosis of CFCS were included, with a median age at evaluation of 13 years (range: 1–39 years). Increased susceptibility to infections was reported in 18/56 patients (32%), while autoimmune manifestations were observed in 14/56 patients (25%). Common immunological findings included monocytosis (32%), lymphopenia (21%), and hypogammaglobulinemia, with decreased IgG, IgA, or IgM levels in 21%, 40%, and 35% of patients, respectively. Genotype-phenotype analysis revealed that BRAF mutations were predominantly associated with T-cell lymphopenia, whereas MAP2K1 mutations were linked to monocytosis, reduced naïve and switched-memory B cells, and hypogammaglobulinemia. Immunodeficiency-related treatments, including immunoglobulin replacement therapy, antibiotic prophylaxis, or immunosuppressive therapy, were administered to 6/56 patients (11%).ConclusionsCFCS is associated with recurrent yet heterogeneous immunological abnormalities, including lymphopenia, hypogammaglobulinemia, and increased infection susceptibility. Given these findings, routine immunological assessment should be considered in CFCS patients to facilitate early detection and appropriate management of immune dysfunction.
  • A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment
    Valentina Trevisan, Eugenio De Corso, Germana Viscogliosi, Roberta Onesimo, Alessandro Cina, Marco Panfili, Lucrezia Perri, Cristiana Agazzi, Valentina Giorgio, Donato Rigante, Giovanni Vento, Patrizia Papacci, Filomena Valentina Paradiso, Sara Silvaroli, Lorenzo Nanni, Nicoletta Resta, Marco Castori, Jacopo Galli, Gaetano Paludetti, Giuseppe Zampino, Chiara Leoni
    Orphanet Journal of Rare Diseases, 2024
    Background Lymphatic malformations are vascular developmental anomalies varying from local superficial masses to diffuse infiltrating lesions, resulting in disfigurement. Patients’ outcomes range from spontaneous regression to severe sequelae notwithstanding appropriate treatment. The current classification guides, in part, clinicians through the decision-making process, prognosis prediction and choice of therapeutic strategies. Even though the understanding of molecular basis of the disease has been recently improved, a standardized management algorithm has not been reached yet. Results Here, we report our experience on five children with different lymphatic anomalies of the head and neck region treated by applying a multidisciplinary approach reaching a consensus among specialists on problem-solving and setting priorities. Conclusions Although restitutio ad integrum was rarely achieved and the burden of care is challenging for patients, caregivers and healthcare providers, this study demonstrates how the referral to expert centres can significantly improve outcomes by alleviating parental stress and ameliorating patients’ quality of life. A flow-chart is proposed to guide the multidisciplinary care of children with LMs and to encourage multidisciplinary collaborative initiatives to implement dedicated patients’ pathways.
  • Relationship Between Loss of Y Chromosome and Urologic Cancers: New Future Perspectives
    Pierluigi Russo, Francesco Pio Bizzarri, Giovanni Battista Filomena, Filippo Marino, Roberto Iacovelli, Chiara Ciccarese, Luigi Boccuto, Mauro Ragonese, Filippo Gavi, Francesco Rossi, Cosimo Savoia, Paolo Pietro Suraci, Roberto Falabella, Savio Domenico Pandolfo, Luigi Napolitano, Chiara Leoni, Valentina Trevisan, Giuseppe Palermo, Marco Racioppi, Emilio Sacco, Stijn Muselaers, Nazario Foschi
    Cancers, 2024
    Background: The Y chromosome (ChrY) is essential for male sex determination and spermatogenesis. However, recent studies have revealed its broader role in various physiological processes and disease susceptibility, including cancer. Methods: A comprehensive literature review was conducted using databases like MEDLINE, Scopus, Web of Science, and Google Scholar. The review included clinical and preclinical studies in animals and humans focusing on the role of LoY in urological tumors. Data on the frequency of LoY, its clinical implications, and underlying mechanisms were extracted and analyzed. Results: The evidence suggests that LoY is associated with an increased risk of urologic neoplasms, potentially serving as an early marker of genomic instability. Studies reveal that LoY in urologic cancers correlates with worse survival outcomes and may contribute to tumor progression. LoY may interfere with chromatin structure and epigenetic regulation, suggesting its role as a contributor to early tumorigenesis. Conclusions: LoY appears to be a structural aberration with unique biological and clinical relevance in urologic cancers, possibly serving as a biomarker for genomic instability. Further research is necessary to identify specific Y-linked genes affected by LoY, potentially informing targeted therapies and early diagnostic strategies for these cancers.
  • Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
    Gioia Mastromoro, Claudia Santoro, Marialetizia Motta, Ugo Sorrentino, Paola Daniele, Cristina Peduto, Francesco Petrizzelli, Martina Tripodi, Valentina Pinna, Mariateresa Zanobio, Giovannina Rotundo, Emanuele Bellacchio, Francesca Lepri, Antonella Farina, Maria Cecilia D’Asdia, Francesca Piceci-Sparascio, Tommaso Biagini, Antonio Petracca, Marco Castori, Daniela Melis, Maria Accadia, Giovanna Traficante, Luigi Tarani, Paolo Fontana, Fabio Sirchia, Roberto Paparella, Aurora Currò, Francesco Benedicenti, Iris Scala, Maria Lisa Dentici, Chiara Leoni, Valentina Trevisan, Antonella Cecconi, Sandra Giustini, Antonio Pizzuti, Leonardo Salviati, Antonio Novelli, Giuseppe Zampino, Martin Zenker, Maurizio Genuardi, Maria Cristina Digilio, Laura Papi, Silverio Perrotta, Vincenzo Nigro, Elisabeth Castellanos, Tommaso Mazza, Eva Trevisson, Marco Tartaglia, Giulio Piluso, Alessandro De Luca
    Genetics in Medicine, 2024
  • Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome
    F. Proli, E. Sforza, A. Faragalli, V. Giorgio, C. Leoni, D. Rigante, E. Kuczynska, C. Veredice, D. Limongelli, A. Zappalà, J. Rosati, M. Pennuto, V. Trevisan, G. Zampino, R. Onesimo
    European Journal of Pediatrics, 2024
  • Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome
    Roberta Onesimo, Elisabetta Sforza, Federica Palermo, Valentina Giorgio, Chiara Leoni, Donato Rigante, Valentina Trevisan, Cristiana Agazzi, Domenico Limongelli, Francesco Proli, Eliza Maria Kuczynska, Laura Crisponi, Giangiorgio Crisponi, Giuseppe Zampino
    Genes, 2024
  • Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes
    Roberta Onesimo, Elisabetta Sforza, Elizabeth Katherine Anna Triumbari, Francesco Proli, Chiara Leoni, Valentina Giorgio, Donato Rigante, Valentina Trevisan, Cristina De Rose, Eliza Maria Kuczynska, Antonella Cerchiari, Marika Pane, Eugenio Mercuri, Peter Belafsky, Giuseppe Zampino
    International Journal of Language and Communication Disorders, 2024
  • Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature
    Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
    Genes, 2024
  • Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations
    Donato Rigante, Chiara Leoni, Roberta Onesimo, Valentina Giorgio, Valentina Trevisan, Giuseppe Zampino
    Autoimmunity Reviews, 2023
  • Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness
    Lorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, Giancarlo Iarossi, Laura Chioma, Marialisa Dentici, Giuseppe Merla, Emanuele Agolini, Alessia Micalizzi, Cecilia Mancini, Marcello Niceta, Marina Macchiaiolo, Daria Diodato, Roberta Onesimo, Rita Blandino, Angelica Bibiana Delogu, Gabriella De Rosa, Valentina Trevisan, Mariella Iademarco, Giuseppe Zampino, Marco Tartaglia, Antonio Novelli, Andrea Bartuli, Maria Cristina Digilio, Giulio Calcagni
    Clinical Genetics, 2023
  • From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome
    Roberta Onesimo, Elisabetta Sforza, Valentina Trevisan, Chiara Leoni, Valentina Giorgio, Donato Rigante, Eliza Maria Kuczynska, Francesco Proli, Cristiana Agazzi, Domenico Limongelli, Maria Cistina Digilio, Maria Lisa Dentici, Maria Macchiaiolo, Antonio Novelli, Andrea Bartuli, Lorenzo Sinibaldi, Marco Tartaglia, Giuseppe Zampino
    Genes, 2023
  • Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review
    Clelia Cipolla, Linda Sessa, Giulia Rotunno, Giorgio Sodero, Francesco Proli, Chiara Veredice, Valentina Giorgio, Chiara Leoni, Jessica Rosati, Domenico Limongelli, Eliza Kuczynska, Elisabetta Sforza, Valentina Trevisan, Donato Rigante, Giuseppe Zampino, Roberta Onesimo
    Children, 2023
  • Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome
    Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Tommaso Verdolotti, Tommaso Biagini, Tommaso Mazza, Alessandro De Luca, Lucrezia Perri, Valentina Trevisan, Elisabetta Flex, Marco Tartaglia, Giuseppe Zampino
    Clinical Genetics, 2023
  • Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review
    Flaminia Pugnaloni, Roberta Onesimo, Rita Blandino, Carolina Putotto, Paolo Versacci, Angelica Bibiana Delogu, Chiara Leoni, Valentina Trevisan, Ileana Croci, Federica Calì, Maria Cristina Digilio, Giuseppe Zampino, Bruno Marino, Giulio Calcagni
    Genes, 2023
  • What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review
    Elisabetta Sforza, Gaia Margiotta, Valentina Giorgio, Domenico Limongelli, Francesco Proli, Eliza Maria Kuczynska, Chiara Leoni, Cristina De Rose, Valentina Trevisan, Domenico Marco Romeo, Rosalinda Calandrelli, Eugenio De Corso, Luca Massimi, Osvaldo Palmacci, Donato Rigante, Giuseppe Zampino, Roberta Onesimo
    Genes, 2023
  • Case Report: Challenges of Non-Invasive Prenatal Testing (NIPT): A Case Report of Confined Placental Mosaicism and Clinical Considerations
    Giulia Bonanni, Valentina Trevisan, Marcella Zollino, Marco De Santis, Federica Romanzi, Antonio Lanzone, Elisa Bevilacqua
    Frontiers in Genetics, 2022
  • Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
    Roddy Walsh, Arnon Adler, Ahmad S Amin, Emanuela Abiusi, Melanie Care, Hennie Bikker, Simona Amenta, Harriet Feilotter, Eline A Nannenberg, Francesco Mazzarotto, Valentina Trevisan, John Garcia, Ray E Hershberger, Marco V Perez, Amy C Sturm, James S Ware, Wojciech Zareba, Valeria Novelli, Arthur A M Wilde, Michael H Gollob
    European Heart Journal, 2022
  • Autologous ex vivo lentiviral gene therapy for adenosine deaminase deficiency
    Donald B. Kohn, Claire Booth, Kit L. Shaw, Jinhua Xu-Bayford, Elizabeth Garabedian, Valentina Trevisan, Denise A. Carbonaro-Sarracino, Kajal Soni, Dayna Terrazas, Katie Snell, Alan Ikeda, Diego Leon-Rico, Theodore B. Moore, Karen F. Buckland, Ami J. Shah, Kimberly C. Gilmour, Satiro De Oliveira, Christine Rivat, Gay M. Crooks, Natalia Izotova, John Tse, Stuart Adams, Sally Shupien, Hilory Ricketts, Alejandra Davila, Chilenwa Uzowuru, Amalia Icreverzi, Provaboti Barman, Beatriz Campo Fernandez, Roger P. Hollis, Maritess Coronel, Allen Yu, Krista M. Chun, Christian E. Casas, Ruixue Zhang, Serena Arduini, Frances Lynn, Mahesh Kudari, Andrea Spezzi, Marco Zahn, Rene Heimke, Ivan Labik, Roberta Parrott, Rebecca H. Buckley, Lilith Reeves, Kenneth Cornetta, Robert Sokolic, Michael Hershfield, Manfred Schmidt, Fabio Candotti, Harry L. Malech, Adrian J. Thrasher, H. Bobby Gaspar
    New England Journal of Medicine, 2021
  • Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID
    Martijn V. Verhagen, Valentina Trevisan, John Adu, Catherine M. Owens, Claire Booth, Alistair Calder
    Journal of Clinical Immunology, 2020
  • The combination of bortezomib with chemotherapy to treat relapsed/refractory acute lymphoblastic leukaemia of childhood
    Alice Bertaina, Luciana Vinti, Luisa Strocchio, Stefania Gaspari, Roberta Caruso, Mattia Algeri, Valentina Coletti, Carmelo Gurnari, Mariateresa Romano, Maria Giuseppina Cefalo, Katia Girardi, Valentina Trevisan, Valentina Bertaina, Pietro Merli, Franco Locatelli
    British Journal of Haematology, 2017
  • Remestemcel-L for the treatment of graft versus host disease
    F. Locatelli, M. Algeri, V Trevisan, A. Bertaina
    Expert Review of Clinical Immunology, 2017

INDUSTRY EXPERIENCE

I have worked in a gene therapy trial with Orchad Therapeutics.