Marco SALVATORE

@iss.it

National center for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit
Istituto Superiore di Sanità, Rome

Marco SALVATORE


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https://researchid.co/marco.salvatore
63

Scopus Publications

Scopus Publications

  • Real-World Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis: A 24-Month Italian National Registry Study
    Donatello Salvatore, Giuseppe Campagna, Rita Padoan, Angela Pepe, Annalisa Amato, Marco Salvatore
    Journal of Clinical Medicine, 2026
    Background: The CFTR modulator elexacaftor/tezacaftor/ivacaftor (ETI) has transformed cystic fibrosis (CF) care, but national-level real-world data on long-term effectiveness, durability of response, and treatment de-escalation remain limited. Methods: We conducted a nationwide longitudinal study using the Italian Cystic Fibrosis Registry. People with CF aged ≥6 years who initiated ETI between October 2019 and December 2022 and received ≥3 months of continuous therapy were included. Lung function (percent predicted FEV1, ppFEV1), nutritional status (BMI or BMI z-score), hospital days, complications, microbiology, and chronic treatments were assessed during the two years before and up to two years after ETI initiation. Longitudinal changes were analyzed using generalized estimating equations with multiple imputation for missing data. Results: The cohort included 2276 individuals (mean age 27.9 ± 13.3 years; 49% female). Mean ppFEV1 declined during the pre-ETI period but increased by 9.9 percentage points at 12 months after ETI initiation (p < 0.001) and remained 6.8 percentage points above baseline at 24 months. A decline between 12 and 24 months was observed overall, except in individuals with severe baseline lung disease (ppFEV1 < 40%), who maintained stable improvements. Mean annual hospital days decreased by approximately 65% and remained low throughout follow-up. Nutritional status improved, with a mean BMI increase of approximately 1.05 kg/m2 compared with immediate pre-treatment in adults and a BMI z-score increase of 0.2 SD compared with pre-treatment timepoints in children. Use of most standard CF therapies declined substantially, particularly among individuals with ppFEV1 ≥ 40%. The prevalence of allergic bronchopulmonary aspergillosis decreased, while liver disease prevalence increased modestly, largely reflecting transient elevations in liver enzymes. Conclusions: In this nationwide real-world cohort, ETI was associated with sustained improvements in lung function, nutritional status, and hospitalization burden. The attenuation of lung function gains after the first year, particularly in less severe disease, supports the need for individualized monitoring and cautious treatment de-escalation in the ETI era.
  • Pregnancies in women with cystic fibrosis in the era of CFTR modulators: Current challenges and future perspectives. Insights from the Italian cystic fibrosis registry
    Marco Salvatore, Giuseppe Campagna, Annalisa Amato, Daniela Pierannunzio, Pietro Ripani, Giovanni Taccetti, Benedetta Fabrizzi, Fabio Majo, Rita Padoan
    Journal of Cystic Fibrosis, 2026
  • The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis
    Giorgia Buoncuore, Marco Salvatore, Adele Rocchetti, Lorenzo Facciaroni, Edvige Veneselli, Maurizio Elia, Silvia Russo, Michelina Armando, Michele Germano, Tommaso Prisco, Stefano Sartori, Gemma Marinella, Roberta Battini, Giuseppe Gobbi, Paola Torreri
    European Journal of Medical Genetics, 2026
    BACKGROUND: Angelman syndrome (AS) is a rare and heterogeneous genetic disorder characterized by intellectual and psychomotor delay, speech deficits, seizures and behavioural issues. To evaluate the feasibility of collecting data by many Italian centers involved in pathology management, and to investigate the relationship between various symptoms and genotypes, a dedicated AS registry was developed. This study aims to present preliminary findings from the Italian AS registry (IReAS), with a specific focus on exploring genotype-phenotype correlations. MATERIALS AND METHODS: The IReAS, established in 2020, aims to collect information from 14 different Italian referral. It includes demography, diagnosis and genetic, patient status, therapeutic interventions and mortality data collection. RESULTS: 213 patients (55.4 % female vs 44.6 % male) were included in the IReAS during the 2020-24 period. Average age at genetic diagnosis was 3.8 years; 63 % of patients was paediatric; 70.4 % of subjects had maternal deletion. Most patients exhibited global developmental delay (100 %), movement disorders (94.8 %), behavioral abnormalities (96.2 %), and a total lack of language development (95.8 %). Epilepsy is also highly prevalent (80.3 %), with a significantly higher incidence in patients with maternal deletion compared to non-deletion groups (88 % vs 61.9 %). CONCLUSIONS: The IReAS provides comprehensive data on the diagnosis, genetic subtypes and clinical features of AS patients. It can facilitate genotype-phenotype correlation analyses, offering insights into the AS natural history and potential implications for research on targeted therapies.
  • Cardiological Manifestations in Males and Females Affected by NAA10-Related Disease
    Irene Bottillo, Chiara De Luca, Angela Cordella, Marina Passeri, Marco Salvatore, Paola Fortugno, Silvia Leonardi, Alessandro Dofcaci, Luigi Sciarra, Silvio Romano, Maria Beatrice Musumeci, Camillo Autore, Paola Grammatico, Francesco Brancati
    American Journal of Medical Genetics Part A, 2025
    We report a family with two affected brothers presenting hypertrophic cardiomyopathy, prolonged QT interval, and intellectual disability who, after a dozen years of inconclusive genetic testing, were found to share a previously undescribed variant c.549delA (p.Gly184Alafs*67) in the X‐linked NAA10 gene. Their mother was heterozygous for the variant and had a long history of unexplained cardiac arrhythmia. NAA10 (N‐alpha‐acetyltransferase 10) is a component of the N‐terminal acetyltransferase A complex (also called the NatA complex) necessary for N‐alpha‐acetylation, among the most common post‐translational protein modifications in eukaryotic cells. Deleterious variants in the X‐linked NAA10 gene cause a wide spectrum of clinical features, recently merged under the umbrella term of NAA10‐related disease, mainly featuring intellectual disability, seizures, visual and cardiac abnormalities. Congenital heart defects and cardiac dysfunction/arrhythmias emerged as a very common manifestations of the disease both in males and females described in the medical literature. While atrial and ventricular septal defects dominated at pediatric age in both sexes, hypertrophic cardiomyopathy, and prolonged QT were observed in adult males and females, respectively. Our observations may help in the early recognition of NAA10‐related disease based on previously underrecognized cardiac features, especially in females with unexplained arrhythmias and/or prolonged QT, and guide personalized management of this neglected condition.
  • Sinus of Valsalva Aneurysm Is a Major Feature of FLNA (Filamin A) Loss-of-Function Variants
    Chiara De Luca, Arianna Di Daniele, Simone Marziali, Simonetta Picone, Marco Salvatore, Giulio Folino, Paola Fortugno, Ruggero De Paulis, Francesco Brancati
    Jacc Case Reports, 2025
    A 23-year-old woman underwent valve-sparing root replacement for an asymmetric aneurysm affecting the sinuses of Valsalva (SVA). Genetic analysis revealed a novel variant in the FLNA gene leading to frameshift and a premature stop codon in Filamin A. SVA, typically multiple and affecting the coronary sinus, is a cardinal feature and a handle for diagnosis of FLNA deficiency.
  • A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions
    Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L. Cellai, Gianluca Ferrari, Aimé Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Karaman Pagava, Ratna Dua Puri, Vaness I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio
    Frontiers in Public Health, 2025
    BackgroundUndiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not universally accepted, it is widely recognized.MethodsWe surveyed UDNI members and participants from other countries to explore the challenges posed by URDs and identify possible solutions. Participation in the survey was completely voluntary.ResultsThe survey revealed a need for more consensus on a universally accepted definition for URDs. Still, the UDNI definition gained widespread recognition and serves as a valuable framework for understanding and addressing the challenges of URDs. In addition to national or international networks, fostering a more substantial engagement and resource-sharing ethos among member countries is critical. Despite advances in genomics and diagnostic tools, the diagnostic journey for people living with URDs (PLURDs) remains arduous and often inconclusive. The availability of specialized centers and the utilization of whole exome sequencing (WES) and whole genome sequencing (WGS) vary across countries, with disparities due to healthcare systems, economic status, and government policies. Advocacy groups play a crucial role in supporting PLURDs.ConclusionA unified commitment to prioritizing URDs on the global health agenda, paired with targeted funding, stipulated national strategies, and aligned international cooperation, is imperative to leveling the playing field for the diagnosis and management of URDs and capitalizing on the potential of Advocacy Groups as allies in this endeavor.
  • Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study
    Julie Semenchuk, Yumi Naito, Susan C. Charman, Siobhán B Carr, Stephanie Y. Cheng, Bruce C. Marshall, Albert Faro, Alexander Elbert, Hector H. Gutierrez, Christopher H. Goss, Bulent Karadag, Pierre-Régis Burgel, Carla Colombo, Marco Salvatore, Rita Padoan, Géraldine Daneau, Satenik Harutyunyan, Nataliya Kashirskaya, Laura Kirwan, Peter G Middleton, Rasa Ruseckaite, Isabelle de Monestrol, Lutz Naehrlich, Pedro Mondejar-Lopez, Andreas Jung, Jacqui van Rens, Egil Bakkeheim, Annalisa Orenti, Domenique Zomer-van Ommen, Luiz Vicente RF da Silva-Filho, Flavia Fonseca Fernandes, Marco Zampoli, Anne L. Stephenson, Irena Kasmi, Ouardia Drali, Sabine Burghart, Andrea Lakatos-Krepcik, Johannes Eder, Peter Jaksch, Katharina Kainz, Margit Kallinger, Alexander Leitner, Marta Mozdzen, Andreas Pfleger, Sabine Renner, Martin Stadlinger, Christina Thir, Emil Nuriyev, Hedwige Boboli, Elke De Wachter, Lieven Dupont, Sophie Gohy, Laurence Hanssens, Christiane Knoop, Elise Lammertyn, Vicky Nowé, Jessica Pirson, Matthieu Thimmesch, Eva Van Braeckel, Kim Van Hoorenbeeck, Eef Vanderhelst, Eduardo Piacentini Filho, Rodrigo Abensur Athanazio, Valéria de Carvalho Martins, Marta Cristina Duarte, Luciana de Freitas Velloso Monte, Marcelo Bicalho de Fuccio, Adriana de Siqueira Carvalho Knabben, Roberta Melloti, Daniela Gois Meneses, Guergana Petrova, Duška Tješić-Drinković, Andrea Vukić Dugac, Ivan Bambir, Panayiotis Yiallouros, Alena Bilkova, Pavel Drevinek, Milan Macek, Hanne Vebert Olesen, Tania Pressler, Eman Mahmoud Fouda, Samya Nasr, Abate Yeshidinber Weldetsadik, Montaha Al-iede, Olzhas Abdrakhmanov, Harriet Corvol, Lydie Lemonnier-Videau, Michel Abely, Carole Bailly Piccini, Chantal Belleguic, Tiphaine Bihouee, Yves Billon, Stéphanie Bui, Boubou Camara, Marie-Christine Cheraud, Raphael Chiron, Emmanuelle Coirier Duet, Laure Cosson, Marie-Laure Dalphin, Isabelle Danner Boucher, Sandra De Miranda, Eric Deneuville, Jean-Christophe Dubus, Isabelle Durieu, Ralph Epaud, Michèle Gerardin, Dominique Grenet, Véronique Houdouin, Frédéric Huet, Kanaan Reem, Romain Kessler, Jeanne Languepin, Muriel Laurans, Sylvie Leroy, Cathie Llerena, Julie Macey, Julie Mankikian, Christophe Marguet, Clémence Martin, Laurent Mely, Marie Mittaine, Marlène Murris-Espin, Caroline Perisson, Anne Prevotat, Sophie Ramel, Cinthia Rames, Philippe Reix, Marine Revillon, Martine Reynaud-Gaubert, Bénédicte Richaud-Thiriez, Jean-Luc Rittie, Manuëla Scalbert-Dujardin, Isabelle Sermet-Gaudelus, Véronique Storni, Aurélie Tatopoulos, Guillaume Thouvenin, Françoise Troussier, Laurence Weiss, Nathalie Wizla, Eva-Susanne Behl, Folke Brinkmann, Martin Claßen, Ute Graepler-Mainka, Matthias Griese, Armin Grübl, Jutta Hammermann, Helge Hebestreit, Andrea Heinzmann, Alexander Herz, Alexander Kiefer, Birte Kinder, Holger Köster, Stefan Kuhnert, Jochen Mainz, Angelika Mayer, Susanne Naehrig, Tim Niehues, Thomas Nüßlein, Krystyna Poplawska, Felix Ringshausen, Markus Rose, Josef Rosenecker, Renate Ruppel, Anette Scharschinger, Christian Schropp, Carsten Schwarz, Christina Smaczny, Olaf Sommerburg, Sivagurunathan Sutharsan, Simone Stolz, Wolfgang Thomas, Sabine Wege, Britta Welzenbach, Bettina Wollschläger, Filia Diamantea, Elpis Hatziagorou, Katerina Manika, Des Cox, Basil Elnazir, Godfrey Fletcher, Cedric Gunaratnam, Edward F. McKone, Barry J. Plant, Malena Cohen-Cymberknoh, Michal Gur, Galit Livnat, Meir Mei-Zahav, Annalisa Amato, Gianluca Ferrari, Raffaele Badolato, Piercarlo Poli, Fiorella Battistini, Valentina Donati, Elisabetta Bignamini, Anna Folino, Vincenzo Carnovale, Carlo Castellani, Rosaria Casciaro, Giuseppe Cimino, Marco Cipolli, Francesca Lucca, Mirella Collura, Francesca Ficili, Valeria Daccò, Vanessa Gagliano, Giovanna Pizzamiglio, Valeria Mencarini, Nicola Palladino, Salvatore Leonardi, Novella Rotolo, Maria Cristina Lucanto, Ester Quattromano, Vincenzina Lucidi, Fabio Majo, Federico Alghisi, Fabiana Ciciriello, Antonio Manca, Giuseppina Leonetti, Massimo Maschio, Barbara Messore, Stefano Pantano, Giovanna Pisi, Cinzia Spaggiari, Valeria Raia, Caterina Laezza, Mirco Ros, Donatello Salvatore, Giovanni Taccetti, Michela Francalanci, Pamela Vitullo, Anna Zolin, Elina Aleksejeva, Kestutis Malakauskas, Valdone Misevičiene, Anna-Maria Charatsi, Hélène De la Barrière, Josje Altenburg, Michiel Bannier, Harry Heijerman, Hettie Janssens, Gerard Koppelman, Renske van der Meer, Peter Merkus, Marianne Nuijsink, Suzanne Terheggen, Hester van der Vaart, Geert-Jan Wesseling, Karin de Winter, Ivana Arnaudova Danevska, Tatjana Jakovska Maretti, Stojka Fustik, Daria Dziecichowicz-Latała, Irena Wojsyk-Banaszak, Lukasz Wozniacki, Adelina Amorim, Ana Sofia Araújo Santos, Susana Castanhinha, Fernanda Gamboa, Teresa Reis Silva, Fabienne Gonçalves, Luísa Pereira, Ioana Ciuca, Sónia Silva, Szabo Csilla-Enikö, Iustina Stan, Elena Amelina, Evgeniya Boitсova, Anastasia Chernyavskaya, Yuliya Gorinova, Stanislav Krasovskiy, Maria Mukhina, Victoria Sherman, Olga Simonova, Elena Kondratyeva, Eva Bérešová, Nina Bližnáková, Hana Kayserová, Barbara Salobir, Julij Šelb, Uroš Krivec, Antonio José Aguilar Fernandez, Antonio Alvarez Fernàndez, Félix Baranda García, Marina Blanco Aparicio, Silvia Castillo Corullón, Isidoro Cortell-Aznar, Inés Pérez, Jordi Costa i Colomer, María Cols Roig, Isabel Delgado Pecellín, Layla Diab Cáceres, Carmen Luna Paredes, Silvia Gartner, José Ramón Gutiérrez Martínez, Inés Herrero Labarga, Rosa Maria Girón-Moreno, Esperanza Jiménez Nogueira, Adelaida Lamas Ferreiro, Alejandro López Neyra, Enrique Blitz Castro, Laura Moreno Galarraga, Carlos Martin de Vincente, Silvia Merlos Navarro, Rosa Nieto-Royo, Casilda Olveira Fuster, Maria Dolores Pastor, Estela Pérez-Ruiz, Concepción Prados-Sánchez, Isabel Ramos Cancelo, Marta Ruiz de Valbuena, José R. Villa Asensi, Veronica Sanz Santiago, Patricia Fernández García, Reem Mustafa Tawfeeq, Adrienn Banki, Marita Gilljam, Christina Krantz, Ulrika Lindberg, Anders Lindblad, Christian Clarenbach, Carolin Steinack, René Hage, Macé Schuurmans, Reta Fischer, Rachel Kusche, Isabelle Rochat, Macé Schuurmans, Anna-Lena Walter, Harutai Kamalaporn, Samia Hamouda, Dilber Ademhan Tural, Ugur Ozcelik, Pelin Asfuroğlu, Tuğba Şişmanlar Eyüboğlu, Ayse Tana Aslan, Ayşen Bingöl, Nazan Çobanoğlu, Gizem Ozcan, Deniz Dogru, Yasemin Gökdemir, Mehmet KÖSE, Sevgi Pekcan, Rebecca Cosgriff
    Journal of Cystic Fibrosis, 2024
    <h2>Abstract</h2><h3>Background</h3> Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF). <h3>Methods</h3> This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021. Forced expiratory volume in one second percent predicted (ppFEV<sub>1</sub>) and body mass index (BMI) twelve months prior to and following a diagnosis of COVID-19 were recorded. Change in mean ppFEV<sub>1</sub> and BMI were compared using a <i>t</i>-test. A linear mixed-effects model was used to estimate change over time and to compare the rate of change before and after infection. <h3>Results</h3> A total of 6,500 cases of COVID-19 in pwCF from 33 countries were included for analysis. The mean difference in ppFEV<sub>1</sub> pre- and post-infection was 1.4 %, (95 % CI 1.1, 1.7). In those not on modulators, the difference in rate of change pre- and post-infection was 1.34 %, (95 % CI -0.88, 3.56) per year (<i>p</i> = 0.24) and -0.74 % (-1.89, 0.41) per year (<i>p</i> = 0.21) for those on elexacaftor/tezacaftor/ivacaftor. No clinically significant change was noted in BMI or BMI percentile before and after COVID-19 infection. <h3>Conclusions</h3> No clinically meaningful impact on lung function and BMI trajectory in the year following infection with COVID-19 was identified. This work highlights the ability of the global CF community to unify and address critical issues facing pwCF.
  • Nutritional Trends in Cystic Fibrosis: Insights from the Italian Cystic Fibrosis Patient Registry
    Donatello Salvatore, Rita Padoan, Annalisa Amato, Marco Salvatore, Giuseppe Campagna, and
    Journal of Clinical Medicine, 2024
    Background: Over the past decades, efforts have been made to improve the nutritional well-being of people with cystic fibrosis (pwCF). Due to the correlation observed between nutritional indices and lung function, prevailing recommendations consistently advocate for BMI percentile goals at or above the 50th percentile in pwCF. Recent global trends show a notable increase in overweight and obese statuses among pwCF. This study aims to explore the nutritional status of Italian pwCF. Methods: Data from the Italian CF Patient’s Registry were analysed to assess the proportion of individuals categorized as underweight, target weight, overweight, and obese from 2010 to 2021. Patient-level comparison data from 2021 were also examined to identify the potential determinants of overweight and obesity. Results: Analysis spanning 2010 to 2021 reveals a decrease of approximately 40% in underweight status among adults, while the proportion of malnourished patients younger than 18 years remained stable. Conversely, there was a substantial increase of over 70% in overweight status and over 85% in obesity among adults, with minor fluctuations observed among children and adolescents. Patient factors associated with increased obesity incidence included age older than 45 years, male gender, pancreatic sufficiency, possession of at least one CFTR variant conferring residual function, ppFEV1 &gt; 90, and lower prevalence of Pseudomonas aeruginosa colonization. Conclusions: Our study confirms the evolving nutritional status landscape among Italian adult pwCF, with a significant shift towards overweight and obesity over the past decade. These trends highlight the need for proactive measures within CF standards of care to adapt and address the changing needs of patients.
  • The Italian external quality assessment program for Cystic Fibrosis sweat chloride test: CFTR modulators and the impact of a new sweat test report form
    Natalia Cirilli, Giovanna Floridia, Annalisa Amato, Rita Padoan, Federica Censi, Gianluca Ferrari, Valeria Raia, Giuseppe Castaldo, Ettore Capoluongo, Domenica Taruscio, Marco Salvatore
    Practical Laboratory Medicine, 2024
    Background: The advent of CFTR modulators highlighted that the sweat test (ST) for CF can be used also as an outcome measure for the basic defect of CFTR. Despite the technological advances, ST still remains operator-dependent and its execution should be strongly paired with guidelines. In 2022, due to the advent of CFTR modulators, the Italian CF Society introduced a specific ST report. The aim of the present paper is to discuss the impact of this new report in the 2022-23 round of the Italian External Quality Assessment program for ST (I-EQA-SCT). Methods: The scheme of the I-EQA-SCT is prospective, enrolment is voluntary, the payment of a fee is required and results are shared through a web-facility. Assessment covers analysis, interpretation, and reporting of results. In the 2022-23 round, 2 out of the 3 mock clinical information referred to patients who started modulators. Results: Fourteen laboratories completed the 2022-23 I-EQA-SCT round. Three of them failed in the interpretation of results from these two mock cases and/or used a wrong report not consistent with the more recent Italian Sweat Test Recommendations. Conclusions: The overall results obtained from the laboratories involved in the I-EQA-SCT program clearly showed that the laboratories' qualitative and quantitative performance improved significantly. Results emerged from this round highlighted an issue in the report form used for monitoring patients on CFTR modulator therapy thus stressing the importance of these programs in improving both the performance of lab services and ameliorating the sweat test recommendations.
  • Italian Cystic Fibrosis Registry (ICFR). Report 2021-2022
    Giuseppe Campagna, A. Amato, Fabio Majo, G. Ferrari, S. Quattrucci, R. Padoan, G. Floridia, D. Salvatore, V. Carnovale, Gianna Puppo Fornaro, D. Taruscio, M. Salvatore
    Epidemiologia E Prevenzione, 2024
    INTRODUCTION Italian Cystic Fibrosis Registry (ICFR) collects data of patients with cystic fibrosis (CF) through the collaboration with Italian CF referral and support Centres (Italian law 548/93). It aims at analysing medium and long-term clinical and epidemiological trends, identifying healthcare needs at regional and national levels, contributing to healthcare programmes, and resource allocation. Italian data are also compared at international level through the collaboration with the European CF Registry for sharing epidemiological data on general aspects like CF epidemiology and specific topics such as the use of CFTR modulators. OBJECTIVES The purpose of this Report is to provide updated demographic and clinical data of the Italian FC population for the years 2021 and 2022, to contribute essential information for the implementation of projects aimed at improving the management of patients affected by this disease. DESIGN Analyses and results presented in this Report pertain to patients currently under care at Italian National Referral and Support Centres for Cystic Fibrosis and Paediatric Hospital 'Bambino Gesù' in the 2021-2022 period. Data were submitted by clinical Centres through a dedicated web-based software and underwent dual quality control (QC) measures: automated quantitative QC within the software and secondary QC at the European level before the integration into the European Cystic Fibrosis Registry. These measures ensure data completeness, accuracy, and longitudinal consistency with European core data. SETTING AND PARTICIPANTS A total of 27 CF Centres, including referral and support centres, as well as 'Bambino Gesù' Children's Hospital CF centre, submitted their data to ICFR for the years 2021-2022. Althourgh CF Centres in Verona and Messina do not use the ICFR software, their data are centrally collected and subsequently forwarded to the European Registry. Data from service centres in Treviso and Rovereto are transmitted via the Verona CF Centre. Data from Sardinia Centre are currently unavailable. RESULTS The results section provides a comprehensive overview of various aspects of CF epidemiology and patient characteristics. 1.Demography: in 2021 and 2022, 5,977 and 6,077 CF patients were respectively included in the ICFR, with median ages of 23.3 and 23.7 years. The prevalence rates were 10.1 and 10.3 per 100,000 residents in Italy for the respective years, with males comprising 51.6% on average. The distribution by age showed a higher frequency among patients aged 7 to 35 years; adult patients constituted 63.5% on average in both years. 2. Diagnosis: most CF patients were diagnosed before the age of two (mean value 57.9%), with a significant percentage diagnosed in adult age (35.4% in 2021 and 25.6% in 2022). 3.New diagnoses: there were 113 new diagnoses in 2021 and 121 in 2022, with estimated incidences of 1 in 9,097 living births in 2021 and 1 in 6,232 in 2022. 4. Genetics: genetic analyses were conducted on 99.9% of patients, revealing CFTR gene mutations in over 98% of cases. The F508del mutation was the most common (44% of alleles in 2021), with 18% of patients having at least one "residual function" mutation. Gating mutations were present in 3.4% of Italian patients, while 20% had at least one-stop codon mutation. 5.Lung function: lung function, measured by percent predicted (pp)FEV1 (Forced Expiratory Volume in the first second) progressively declined before adulthood, with the majority of paediatric patients (92.8% in 2021 and 93.8% in 2022) maintaining a ppFEV1≥70%. 6.Nutrition: critical periods for nutrition were identified as the first 6 months of life and adolescence, with higher prevalence of malnourished male adolescents compared to females. Suboptimal BMI values were more common in adult females (28.7% in 2021 and 26.9% in 2022) compared to males (14.2% in 2021 and 12.6% in 2022). 7. Complications: CF-related liver disease without cirrhosis was prevalent in patients under 18 years (21.9% in 2021 and 21.2 in 2022), while CF-related diabetes was most frequent in adults (24.2%). 8.Transplantation: over the two-year period, 28 patients underwent double-lung transplantation, with median ages of 29.1 in 2021 and 35.3 in 2022, respectively. Median waiting times ranged from 9.4 to 11.6 months. 9.Microbiology: chronic Pseudomonas aeruginosa infection affected 37.2% of adult patients in 2021 and 36.0% in 2022, compared to 7.4% and 6.5% in paediatric patients. Staphylococcus aureus infection rates were 34.6% and 42.2% in 2021 among adults and 34.4% and 36.7% in 2022 among paediatric patients. 10. Mortality: a total of 34 patients died during the 2021-22 period (19 females, 15 males), with median ages at death of 43.7 years in 2021 and 46 years in 2022 (excluding transplanted patients). CONCLUSIONS The present Report is an update of the data published in the past years and summarizes the main epidemiological and clinical data regarding Italian CF subjects in the years 2021 and 2022. The number of patients registered in 2021 was 5,977, while in 2022 was 6,077. The population coverage estimates for 2022 to be around 97%. In 2020, 60.5% of patients were older than 18 years, in 2022 adult patients account for 63.5% of the Italian CF population. Over the years, therefore, an increase in the median age of Italian CF patients has been observed, reaching 23.7 years in 2022. The absolute number of new diagnoses per year remains substantially unchanged over the years (a total of 234 in the period under review). The median age at diagnosis in 2022 was 2.5 months, 62.6% of subjects are really diagnosed within the first year of life and almost 90% of them are diagnosed through neonatal screening. In 2022, almost all patients underwent genetic analysis (99.9%). Data collected confirm the great variability among Italian CF patients. As regards respiratory function, what is reported in previous reports is here confirmed, with an ever-increasing percentage of subjects under the age of 18 having normal respiratory function, moreover, less than 1% of paediatric patients has a severe lung function (ppFEV1<40). The marked improvement in this indicator in the adult population seems to be mainly due to the introduction from 2021 in Italy of therapy with highly effective CFTR modulators. At the same time, the close positive correlation between nutritional status and respiratory function is confirmed for the adult population. As regards chronic infection by Pseudomonas aeruginosa, in 2022, a reduction in the percentage of chronic infection is observed both among adults (36% vs 38.8% in 2020) and in paediatric patients (6.5% vs 7.6% in 2020). The most frequent complication in both paediatric and adult populations is liver disease (respectively, in 24.2% and 41.3% of subjects). In the two-year period, 34 patients died; their median age at death was between 43 and 46 years (transplant patients excluded); only two patients under the age of 18 died in the period 2021 and 2022, confirming once again that mortality in paediatric age is a rare event. The data presented in this Report shows how the register can be a national and international point of reference for CF patients and the scientific community, a tool for describing the Italian CF population over the years, and a starting point for planning epidemiological studies and clinical studies.
  • The Italian registry for patients with Prader–Willi syndrome
    Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crinò, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato, Emanuela Scarano, Concetta Schiavariello, Gianluca Tornese, Danilo Fintini, Sarah Bocchini, Sara Osimani, Luisa De Sanctis, Michele Sacco, Irene Rutigliano, Maurizio Delvecchio, Maria Felicia Faienza, Malgorzata Wasniewska, Domenico Corica, Stefano Stagi, Laura Guazzarotti, Pietro Maffei, Francesca Dassie, Domenica Taruscio
    Orphanet Journal of Rare Diseases, 2023
  • Hidden CFSPID in CF patient registries? The Italian CF Registry experience
    V Terlizzi, R Padoan, A Amato, G Campagna, C Castellani, M Salvatore
    Journal of Cystic Fibrosis, 2023
  • Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
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    Frontiers in Public Health, 2023
  • Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators
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    Frontiers in Public Health, 2023
  • RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis
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    Human Molecular Genetics, 2022
  • Factors associated with clinical progression to severe COVID-19 in people with cystic fibrosis: A global observational study
    Siobhán B Carr, Elliot McClenaghan, Alexander Elbert, Albert Faro, Rebecca Cosgriff, Olzhas Abdrakhmanov, Keith Brownlee, Pierre-Régis Burgel, Catherine A Byrnes, Stephanie Y Cheng, Carla Colombo, Harriet Corvol, Géraldine Daneau, Christopher H Goss, Vincent Gulmans, Hector Gutierrez, Satenik Harutyunyan, Meagan Helmick, Andreas Jung, Nataliya Kashirskaya, Edward McKone, Joel Melo, Peter G Middleton, Pedro Mondejar-Lopez, Isabelle de Monestrol, Lutz Nährlich, Rita Padoan, Megan Parker, M Dolores Pastor-Vivero, Samar Rizvi, Rasa Ruseckaite, Marco Salvatore, Luiz Vicente R F da Silva-Filho, Nick Versmessen, Marco Zampoli, Bruce C Marshall, Anne L Stephenson, Scott C Bell, David Reid, Peter Wark, Eva Van Braeckel, Sophie Gohy, Christiane Knoop, Jessica Pirson, Elke De Wachter, Lieven Dupont, Laurence Hanssens, Vicky Nowé, Monique Lequesne, Rodrigo A Athanazio, Daniela G Meneses, Véronique Boussaud, Graziella Brinchault, Emmanuelle Coirier-Duet, Jean-Christophe Dubus, Dominique Grenet, Sandra de Miranda, Laurence Beaumont, Reem Kanaan, Muriel Lauraens, Clémence Martin, Marie Mittaine, Anne Prévotat, Martine Reynaud-Gaubert, Isabelle Sermet-Gaudelus, Aurelie Tatopoulos, Raphael Chiron, Marie-Laure Dalphin, Michele Gerardin, Laurence Weiss, Nathalie Wizla, Sophie Ramel, Barry Plant, Cedric Gunaratnam, Abaigeal Jackson, Karin de Winter- de Groot, Bart Luijk, Geertjan Wesseling, Elena Kondratyeva, Elena Zhekayte, Elena Amelina, Mariya Mukhina, Olga Simonova, Antonio Alvarez-Fernandez, Amparo Sole-Jover, Isidoro Cortell-Aznar, Rosa Girón-Moreno, Alejandro López-Neyra, Isabel Ramos-Cancelo, Maite Lázaro-Carrasco, Dolores Pastor Vivero, Marta Ruiz de Valbuena, Concepción Prados-Sanchez, Jordi Costa-Colomer, Silvia Gartner, Layla Diab-Caceres, Marita Gilljam, Ulrika Lindberg, Stefanie Diemer, Mark Allenby, Stephen J Bourke, Susan C Charman, Janet Collinson, Owen Dempsey, Sarah Denniston, Maya Desai, Jamie Duckers, Christine Etherington, Elaine Gunn, Alex Higton, Timothy Ho, Jeremy Hull, Andrew Jones, Robert Ian Ketchell, Susan L. Madge, Anirban Maitra, Ghulam Mujtaba, Edward Nash, Dilip Nazareth, Christopher O'Brien, Claire Onyon, Christopher Orchard, Daniel Peckham, Helen Rodgers, Nadia Shafi, Nicholas Simmonds, Kevin Southern, Martin Walshaw, Danie Watson, Joanna L. Whitehouse
    Journal of Cystic Fibrosis, 2022
  • Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?
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    Journal of Cystic Fibrosis, 2022
  • Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation
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    Respiratory Medicine, 2022
  • Italian Cystic Fibrosis Registry (ICFR) Report 2019-2020
    G. Campagna, A. Amato, F. Majo, G. Ferrari, S. Quattrucci, R. Padoan, G. Floridia, D. Salvatore, V. Carnovale, Gianna Puppo Fornaro, D. Taruscio, M. Salvatore
    Epidemiologia E Prevenzione, 2022
  • Disease characterization of people with cystic fibrosis and a minimal function mutation: Data from the Italian registry
    Donatello Salvatore, Vincenzo Carnovale, Fabio Majo, Rita Padoan, Serena Quattrucci, Marco Salvatore, Domenica Taruscio, Annalisa Amato, Gianluca Ferrari, Giuseppe Campagna
    Pediatric Pulmonology, 2021
  • Perinatal outcomes in women with cystic fibrosis: Data from the Italian Cystic Fibrosis Registry
    Rita F. Padoan, Serena Quattrucci, Annalisa Amato, Marco Salvatore, Donatello Salvatore, Giuseppe Campagna
    Acta Obstetricia Et Gynecologica Scandinavica, 2021
  • COVID-19 vaccine prioritisation for people with cystic fibrosis
    Siobhán B Carr, Rebecca Cosgriff, Satenik Harutyunyan, Peter G Middleton, Rasa Ruseckaite, Susannah Ahern, Géraldine Daneau, Luiz Vicente R F da Silva Filho, Anne L Stephenson, Stephanie Y Cheng, Joel Melo, Harriet Corvol, Pierre-Régis Burgel, Lutz Nährlich, Edward McKone, Carla Colombo, Marco Salvatore, Rita Padoan, Olzhas Abdrakhmanov, Vincent Gulmans, Catherine A Byrnes, Elena Amelina, Elena Kondratyeva, Elena Zhekayte, Nataliya Kashirskaya, Marco Zampoli, M Dolores Pastor-Vivero, Pedro Mondejar-Lopez, Isabelle de Monestrol, Andeas Jung, Elliot McClenaghan, Keith Brownlee, Samar Rizvi, Christopher H Goss, Alexander Elbert, Albert Faro, Hector Gutierrez, Bruce C Marshall
    Journal of Cystic Fibrosis, 2021
  • Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020
    Lutz Naehrlich, Annalisa Orenti, Fiona Dunlevy, Irena Kasmi, Satenik Harutyunyan, Andreas Pfleger, Svetlana Keegan, Géraldine Daneau, Guergana Petrova, Duška Tješić-Drinković, Panayiotis Yiallouros, Alena Bilkova, Hanne Vebert Olesen, Pierre-Régis Burgel, Tsitsino Parulava, Filia Diamantea, Andrea Párniczky, Edward F McKone, Meir Mei-Zahav, Marco Salvatore, Carla Colombo, Elina Aleksejeva, Kestutis Malakauskas, Marc Schlesser, Stojka Fustik, Oxana Turcu, Domenique Zomer-van Ommen, Anita Senstad Wathne, Łukasz Woźniacki, Luísa Pereira, Liviu Pop, Nataliya Kashirskaya, Milan Rodić, Hana Kayserova, Uro Krivecs, Pedro Mondejar-Lopez, Isabelle de Monestrol, Deniz Dogru, Halyna Makukh, Rebecca Cosgriff, Silke van Koningsbruggen-Rietschel, Andreas Jung, Vladimir Bobrovnichy, Ivan Bambir, Andrea Dugac Vukic, Pavel Drevinek, Milan Macek Jr, Harriet Corvol, Lydie Lemonnier-Videau, Elpis Hatziagorou, Godfrey Fletcher, Rita Padoan, Vincent Gulmans, Egil Bakkeheim, Elena Kondratyeva, Elena Amelina, Elena Zhekaite, Olga Simonova, Maria Dolores Pastor-Vivero, Anders Lindblad, Yasemin Gökdemir, Sevgi Pekcan, Keith Brownlee, Elliott McClenaghan, Siobhán Carr, Elise Lammertyn, Anna Zolin, Alice Fox, Marko Krasnyk, Jacqui Van Rens
    Journal of Cystic Fibrosis, 2021
  • First and second wave of SARS-CoV2 in Italian Cystic Fibrosis patients: Data from Italian Cystic Fibrosis Registry
    Rita Padoan, V Carnovale, D Salvatore, S Quattrucci, D Taruscio, G Floridia, A Amato, Gianluca Ferrari, Giuseppe Campagna, Marco Salvatore
    Journal of Cystic Fibrosis, 2021
  • The diagnosis of cystic fibrosis in adult age. Data from the italian registry
    Rita Padoan, Serena Quattrucci, Annalisa Amato, Vincenzo Carnovale, Donatello Salvatore, Marco Salvatore, Giuseppe Campagna
    Diagnostics, 2021
  • Cystic fibrosis with non-G551D gating mutations in Italy: Epidemiology and clinical characteristics
    Donatello Salvatore, Vincenzo Carnovale, Fabio Majo, Rita Padoan, Marco Salvatore, Domenica Taruscio, Annalisa Amato, Gianluca Ferrari, Giuseppe Campagna
    Pediatric Pulmonology, 2021
  • Clinical characteristics of SARS-CoV-2 infection in children with cystic fibrosis: An international observational study
    Robert Bain, Rebecca Cosgriff, Marco Zampoli, Alexander Elbert, Pierre-Régis Burgel, Siobhán B Carr, Claudio Castaños, Carla Colombo, Harriet Corvol, Albert Faro, Christopher H Goss, Hector Gutierrez, Andreas Jung, Nataliya Kashirskaya, Bruce C Marshall, Joel Melo, Pedro Mondejar-Lopez, Isabelle de Monestrol, Lutz Naehrlich, Rita Padoan, Maria Dolores Pastor-Vivero, Samar Rizvi, Marco Salvatore, Luiz Vicente Ribeiro Ferreira da Silva Filho, Keith G Brownlee, Iram J Haq, Malcolm Brodlie
    Journal of Cystic Fibrosis, 2021
  • Italian cystic fibrosis registry (ICFR): Report 2017-2018
    G. Campagna, A. Amato, F. Majo, G. Ferrari, S. Quattrucci, R. Padoan, G. Floridia, D. Salvatore, V. Carnovale, Gianna Puppo Fornaro, D. Taruscio, M. Salvatore
    Epidemiologia E Prevenzione, 2021
  • The global impact of SARS-CoV-2 in 181 people with cystic fibrosis
    Elliot McClenaghan, Rebecca Cosgriff, Keith Brownlee, Susannah Ahern, Pierre-Régis Burgel, Catherine A Byrnes, Carla Colombo, Harriet Corvol, Stephanie Y Cheng, Géraldine Daneau, Alexander Elbert, Albert Faro, Christopher H Goss, Vincent Gulmans, Hector Gutierrez, Isabelle de Monestrol, Andreas Jung, Lutz Nährlich Justus, Nataliya Kashirskaya, Bruce C Marshall, Edward McKone, Peter G Middleton, Pedro Mondejar-Lopez, M Dolores Pastor-Vivero, Rita Padoan, Samar Rizvi, Rasa Ruseckaite, Marco Salvatore, Anne L. Stephenson, Luiz Vicente R da Silva Filho, Joel Melo, Marco Zampoli, Siobhán B Carr
    Journal of Cystic Fibrosis, 2020
  • Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis
    Lucia Micale, Samantha Cialfi, Carmela Fusco, Luigia Cinque, Stefano Castellana, Tommaso Biagini, Claudio Talora, Angelantonio Notarangelo, Luigi Bisceglia, Domenica Taruscio, Marco Salvatore, Marco Castori
    Human Molecular Genetics, 2020
  • Improving diagnosis for rare diseases: The experience of the Italian undiagnosed Rare diseases network
    Marco Salvatore, Agata Polizzi, Maria Chiara De Stefano, Giovanna Floridia, Simone Baldovino, Dario Roccatello, Savino Sciascia, Elisa Menegatti, Giuseppe Remuzzi, Erica Daina, Paraskevas Iatropoulos, Bruno Bembi, Rosalia Maria Da Riol, Alessandra Ferlini, Marcella Neri, Giuseppe Novelli, Federica Sangiuolo, Francesco Brancati, Domenica Taruscio
    Italian Journal of Pediatrics, 2020
  • The Italian external quality assessment program for cystic fibrosis sweat chloride test: Does active participation improve the quality?
    Marco Salvatore, Annalisa Amato, Giovanna Floridia, Federica Censi, Gianluca Ferrari, Fabrizio Tosto, Rita Padoan, Valeria Raia, Natalia Cirilli, Giuseppe Castaldo, Ettore Capoluongo, Ubaldo Caruso, Carlo Corbetta, Domenica Taruscio
    International Journal of Environmental Research and Public Health, 2020
  • The Undiagnosed Diseases Network International: Five years and more!
    D. Taruscio, G. Baynam, H. Cederroth, S.C. Groft, E.W. Klee, K. Kosaki, P. Lasko, B. Melegh, O. Riess, M. Salvatore, W.A. Gahl
    Molecular Genetics and Metabolism, 2020
  • Homozygous recessive versican missense variation is associated with early teeth loss in a pakistani family
    Stefania Bigoni, Marcella Neri, Chiara Scotton, Roberto Farina, Patrizia Sabatelli, Chongyi Jiang, Jianguo Zhang, Maria Sofia Falzarano, Rachele Rossi, Davide Ognibene, Rita Selvatici, Francesca Gualandi, Dieter Bosshardt, Paolo Perri, Claudio Campa, Francesco Brancati, Marco Salvatore, Maria Chiara De Stefano, Domenica Taruscio, Leonardo Trombelli, Mingyan Fang, Alessandra Ferlini
    Frontiers in Genetics, 2019
  • Italian cystic fibrosis registry (ICFR): Report 2015-2016
    Barbara Giordani, Annalisa Amato, Fabio Majo, Gianluca Ferrari, Serena Quattrucci, et al.
    Epidemiologia E Prevenzione, 2019
  • A case-control study on pregnancy in Italian Cystic Fibrosis women. Data from the Italian Registry
    B. Giordani, S. Quattrucci, A. Amato, M. Salvatore, R. Padoan
    Respiratory Medicine, 2018
  • Meeting patients’ right to the correct diagnosis: Ongoing international initiatives on undiagnosed rare diseases and ethical and social issues
    Sabina Gainotti, Deborah Mascalzoni, Virginie Bros-Facer, Carlo Petrini, Giovanna Floridia, Marco Roos, Marco Salvatore, Domenica Taruscio
    International Journal of Environmental Research and Public Health, 2018
  • Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
    Undiagnosed Disease Network Italy, Francesco Brancati, Letizia Camerota, Emma Colao, Virginia Vega-Warner, Xiangzhong Zhao, Ruixiao Zhang, Irene Bottillo, Marco Castori, Alfredo Caglioti, Federica Sangiuolo, Giuseppe Novelli, Nicola Perrotti, Edgar A. Otto
    European Journal of Human Genetics, 2018
  • The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria
    Maria Chiara de Stefano, Giovanna Floridia, Federica Censi, Fabrizio Tosto, Marco Salvatore, et al.
    Annali Dell Istituto Superiore Di Sanita, 2018
  • Italian cystic fibrosis registry report 2011-2014
    Epidemiologia E Prevenzione, 2018
  • Undiagnosed diseases: Italy-US collaboration and international efforts to tackle rare and common diseases lacking a diagnosis
    Domenica Taruscio, Giovanna Floridia, Marco Salvatore, Stephen C. Groft, William A. Gahl
    Advances in Experimental Medicine and Biology, 2017
  • Italian external quality assessment program for cystic fibrosis sweat chloride test: A 2015 and 2016 results comparison
    Marco Salvatore, Giovanna Floridia, Annalisa Amato, Federica Censi, Maria Chiara de Stefano, et al.
    Annali Dell Istituto Superiore Di Sanita, 2017
  • The Italian pilot external quality assessment program for cystic fibrosis sweat test
    Marco Salvatore, Giovanna Floridia, Annalisa Amato, Federica Censi, Claudio Carta, Maria Chiara de Stefano, Gianluca Ferrari, Fabrizio Tosto, Ettore Capoluongo, Ubaldo Caruso, Giuseppe Castaldo, Natalia Cirilli, Carlo Corbetta, Rita Padoan, Valeria Raia, Domenica Taruscio
    Clinical Biochemistry, 2016
  • Italian cystic fibrosis register report 2010
    Epidemiologia E Prevenzione, 2016
  • The Italian National Centre for rare diseases: Where research and public health translate into action
    Domenica Taruscio, Linda Agresta, Annalisa Amato, Giuseppe De Bernardo, Luana de Morais Bernardo, et al.
    Blood Transfusion, 2014
  • The Italian national external quality assessment program in molecular genetic testing: Results of the VII round (2010-2011)
    F. Censi, F. Tosto, G. Floridia, M. Marra, M. Salvatore, A. M. Baffico, M. Grasso, M. A. Melis, E. Pelo, P. Radice, A. Ravani, C. Rosatelli, N. Resta, S. Russo, M. Seia, L. Varesco, V. Falbo, D. Taruscio
    Biomed Research International, 2013
  • Predictive medicine and biomarkers: The case of rare diseases
    Domenica Taruscio, Marco Salvatore, Armando Magrelli, Rosella Tomanin
    Personalized Medicine, 2012
  • Oxidative stress activation of miR-125b is part of the molecular switch for Hailey-Hailey disease manifestation
    Sonia Manca, Armando Magrelli, Samantha Cialfi, Karine Lefort, Roberto Ambra, Maurizio Alimandi, Gianfranco Biolcati, Daniela Uccelletti, Claudio Palleschi, Isabella Screpanti, Eleonora Candi, Gerry Melino, Marco Salvatore, Domenica Taruscio, Claudio Talora
    Experimental Dermatology, 2011
  • The role of microRNAs in the biology of rare diseases
    Marco Salvatore, Armando Magrelli, Domenica Taruscio
    International Journal of Molecular Sciences, 2011
  • MicroRNA profiling of multiple osteochondromas: Identification of disease-specific and normal cartilage signatures
    M Zuntini, M Salvatore, E Pedrini, A Parra, F Sgariglia, A Magrelli, D Taruscio, L Sangiorgi
    Clinical Genetics, 2010
  • Characterization of HUH6, HEP3B, HEPG2 and HLE liver cancer cell lines by WNT/Q- catenin pathway, microrna expression and protein expression profile
    DI MASI A, VIGANOTTI M, ANTOCCIA A, MAGRELLI A, SALVATORE M, et al.
    Cellular and Molecular Biology, 2010
  • In utero exposure to di-(2-ethylhexyl) phthalate affects liver morphology and metabolism in post-natal CD-1 mice
    Francesca Maranghi, Stefano Lorenzetti, Roberta Tassinari, Gabriele Moracci, Valentina Tassinari, Daniele Marcoccia, Antonio Di Virgilio, Agostino Eusepi, Antonella Romeo, Armando Magrelli, Marco Salvatore, Fabrizio Tosto, Mara Viganotti, Antonio Antoccia, Alessandra Di Masi, Gianluca Azzalin, Caterina Tanzarella, Giuseppe Macino, Domenica Taruscio, Alberto Mantovani
    Reproductive Toxicology, 2010
  • The Italian external quality control program for familial adenomatous polyposis of the colon: Five years of experience
    Federica Censi, Vincenzo Falbo, Giovanna Floridia, Marco Salvatore, Fabrizio Tosto, Marina De Rosa, Nicoletta Resta, Paola Izzo, Ginevra Guanti, Domenica Taruscio
    Genetic Testing and Molecular Biomarkers, 2010
  • Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease
    S. Cialfi, C. Oliviero, S. Ceccarelli, C. Marchese, L. Barbieri, G. Biolcati, D. Uccelletti, C. Palleschi, L. Barboni, C. De Bernardo, P. Grammatico, A. Magrelli, M. Salvatore, D. Taruscio, L. Frati, A. Gulino, I. Screpanti, C. Talora
    British Journal of Dermatology, 2010
  • The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey.
    Fabrizio Tosto, Marco Salvatore, Vincenzo Falbo, Giovanna Floridia, Federica Censi, Cristina Bombieri, Maria Cristina Rosatelli, Domenica Taruscio
    Genetic Testing and Molecular Biomarkers, 2009
  • Altered microRNA expression patterns in hepatoblastoma patients
    Armando Magrelli, Gianluca Azzalin, Marco Salvatore, Mara Viganotti, Fabrizio Tosto, Teresa Colombo, Rita Devito, Alessandra Di Masi, Antonio Antoccia, Stefano Lorenzetti, Francesca Maranghi, Alberto Mantovani, Caterina Tanzarella, Giuseppe Macino, Domenica Taruscio
    Translational Oncology, 2009
  • The Italian External Quality Assessment scheme for fragile X syndrome: The results of a 5-year survey
    Vincenzo Falbo, Giovanna Floridia, Fabrizio Tosto, Federica Censi, Marco Salvatore, Anna Ravani, Alessandra Ferlini, Maria Antonietta Melis, Marina Grasso, Franca Dagna Bricarelli, Domenica Taruscio
    Genetic Testing, 2008
  • The Italian external quality assessment scheme in classical cytogenetics: Four years of activity
    G. Floridia, V. Falbo, F. Censi, F. Tosto, M. Salvatore, A. Baroncini, P. Battaglia, A. Conti, E. Donti, R. La Starza, L. Nitsch, M. Pierluigi, G. Piombo, F. Susca, M. Mancini, C. Mecucci, E. Calzolari, F. Dagna Bricarelli, G. Guanti, D. Taruscio
    Community Genetics, 2008
  • Molecular link(s) between hepatoblastoma pathogenesis and exposure to di-(2-ethylhexyl)phthalate: a hypothesis.
    Folia Medica, 2008
  • A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype
    F. Berardinelli, A. di Masi, M. Salvatore, S. Banerjee, K. Myung, J.P. De Villartay, P. Revy, A. Plebani, A. Soresina, D. Taruscio, C. Tanzarella, A. Antoccia
    European Journal of Medical Genetics, 2007
  • The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 Years of activity
    Marco Salvatore, Vincenzo Falbo, Giovanna Floridia, Federica Censi, Fabrizio Tosto, Cristina Bombieri, Giuseppe Castaldo, Pier Franco Pignatti, Maria Cristina Rosatelli, Domenica Taruscio
    Clinical Chemistry and Laboratory Medicine, 2007
  • Chromosomal alterations detected by comparative genomic hybridization in nonfunctioning endocrine pancreatic tumors
    Giovanna Floridia, Giulia Grilli, Marco Salvatore, Chiara Pescucci, Patrick S. Moore, Aldo Scarpa, Domenica Taruscio
    Cancer Genetics and Cytogenetics, 2005
  • Quality assessment in cytogenetic and molecular genetic testing: The experience of the Italian Project on Standardisation and Quality Assurance
    Domenica Taruscio, Vincenzo Falbo, Giovanna Floridia, Marco Salvatore, Chiara Pescucci, Alfredo Cantafora, Cesarina Marongiu, Anna Baroncini, Elisa Calzolari, Antonio Cao, Giuseppe Castaldo, Franca Dagna Bricarelli, Ginevra Guanti, Lucio Nitsch, Pier Franco Pignatti, Cristina Rosatelli, Francesco Salvatore, Orsetta Zuffardi
    Clinical Chemistry and Laboratory Medicine, 2004