My research has focused on the study of the genetic bases and the pathogenesis of different genetic diseases, including inherited metabolic disorders (isolated cytochrome c oxidase defect, primary coenzyme Q deficiency) and urea cycle defects.
I set up different systems to validate pathogenic mutations and to establish genotype-phenotype correlations, using different approaches in both yeast and mammalian cells. To unravel the function of different genes involved in mitochondrial respiratory chain, I also employ multicellular organisms, including C.elegans and Zebrafish.
I am now involved in cancer genetics research, particularly on the study of the mechanisms driving pediatric cancers associated with a genetic predisposition. I am employing the same organisms to model germline mutations in oncosuppressors/oncogenes identified in rare tumor predisposing syndromes in order to deeply analyze cancerogenesis and to set up simple models for drug screening.
Concerning Clinical Genetics, my
EDUCATION
PhD program in Developmental Medicine and Health Planning Sciences, Department of Paediatrics, University of Padova. Research Line: rare diseases. Mention of Doctor Europaeus
Medical School, University of Padova, degree magna cum laude
Characterization of STRC Gene Conversions by Nanopore Sequencing Chiara Rigon, Ugo Sorrentino, Sara Volta, Francesco Prevedello, Eva Trevisson, Leonardo Salviati, Carlo Viscomi, Matteo Cassina Clinical Chemistry, 2026 Background Biallelic loss-of-function variants of STRC are a frequent cause of mild to moderate nonsyndromic hearing loss. The high (>98%) sequence homology between STRC and its pseudogene STRCP1 poses a significant challenge for accurate interpretation of STRC variants using standard methods. Although STRC–STRCP1 gene conversions have frequently been inferred from next-generation sequencing and copy number variant analysis data, their structure remains poorly delineated. We employed long-read sequencing to characterize the breakpoints of STRC–STRCP1 gene conversions. Methods Three specimens with suspected STRC–STRCP1 gene conversions were analyzed by Nanopore sequencing. Long-range PCR was employed to selectively amplify the rearranged alleles, using 2 different primer pairs based on the predicted gene-conversion structures. Results Nanopore sequencing data confirmed that segments of the wild-type STRC gene were replaced by the corresponding STRCP1 regions in the amplified alleles, consistent with a gene-conversion mechanism in all 3 specimens. Detailed analysis of mismatch patterns, obtained by aligning long reads to reference sequences, further clarified the extent of these conversions. One specimen showed replacement of STRC exons 12 to 23 by STRCP1 sequences, while the other 2 revealed gene conversions involving the terminal STRC exons extending into the adjacent CKMT1B gene. Breakpoints were mapped with variable resolution depending on the rearrangement characteristics. Conclusions Our approach successfully overcomes the resolution limitations of conventional techniques, providing the molecular characterization of STRC–STRCP1 gene conversions. These findings underscore the clinical relevance of such events and highlight the diagnostic potential of Nanopore sequencing in genetic testing.
Impact of genetic variants on hippocampal volume among individuals with schizophrenia and bipolar disorders Tommaso Toffanin, Giulia Ida Perini, Halima Follador, Filippo Zonta, Giovanni Ferri, Giorgio Pigato, Mario Angelo Pagano, Nadia Scupola, Claudia Pinato, Davide Calosci, Maria Ferrara, Angela Muscettola, Giovanni Antonio De Bellis, Chiara Montemitro, Luigi Zerbinati, Maria Giulia Nanni, Rosangela Caruso, Andrea Escelsior, Alessandra Baratto, Nicola Martino, Eva Trevisson, Daniele Olivo, Fabio Sambataro, Luigi Grassi, Martino Belvederi Murri Psychiatry Research Neuroimaging, 2026
ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis) Said C. Farschtschi, Candy Kumps, Tamara Hussong Milagre, Periklis Makrythanasis, Ariane Van Tongerloo, Ellen Denayer, Mariëtte van Kouwen, Estela Carrasco López, Anna Sophie Berghoff, Salvo Testa, Claudia Cesaretti, Eva Trevisson, Renata d’ Oliveira, Francesca Fianchi, Claas Röhl, Diana Salinas-Chaparro, Ileen Slegers, Marianne Geilswijk, Manon Suerink, Irene Spinelli, Sandra Janssens, Sarah Pugh, Laura Kirstine Sønderberg Roos European Journal of Human Genetics, 2026 Cancer predisposition syndromes (CPSs), including genetic tumour risk syndromes (genturis), are a heterogeneous group of genetic disorders characterised by an increased risk of developing tumours compared to the general population. CPSs raise reproductive issues for affected individuals because of the risk of passing the disease-causing genetic alterations on to offspring. The demand for reproductive counselling is often unmet due to the lack of sufficient healthcare professionals with the specialised knowledge, experience and skill. Based on a comprehensive literature review of 851 publications and expert consensus (multidisciplinary medical experts and patient representatives), the European Reference Network on genetic tumour risk syndromes (ERN GENTURIS) developed a guideline providing 16 recommendations for reproductive counselling in CPSs. The central recommendation is to offer reproductive counselling proactively to all individuals with a CPS and their relevant family members, together with psychological support and in multidisciplinary collaborations. This guideline aims to standardize the offer of reproductive counselling for individuals with a CPS across Europe, empowers healthcare professionals for their specific tasks, and helps patients dealing with their own challenges.
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome Andrea Gazzin, Marta Calvo, Federico Rondot, Giuseppe Reynolds, Chiara Leoni, Marcello Niceta, Maria Lisa Dentici, Maria Cristina Digilio, Francesca Lepri, Emanuele Monda, Ilaria Carelli, Eva Trevisson, Iris Scala, Giorgia Mancano, Elena Andreucci, Franco Stanzial, Francesco Brancati, Giuseppe Zampino, Luigi Tarani, Roberto Paparella, Diana Carli, Anna Maria Villar, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Paola Daniele, Elena Airulo, Chiara Riggi, Giulio Calcagni, Giovanni Battista Ferrero, Giuseppe Limongelli, Alessandro De Luca, Marco Tartaglia, Alessandro Mussa European Journal of Human Genetics, 2026
Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson American Journal of Medical Genetics Part A, 2026 Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare. We describe the case of a 53‐year‐old female presenting a severe NS phenotype—including short stature, facial dysmorphism, congenital heart defect, and developmental delay—and concurrent acute myeloid leukemia (AML). Targeted NGS analysis of a RASopathy‐specific gene panel identified a constitutional heterozygous PTPN11 variant (c.1472C>T, p.(Pro491Leu)) and a mosaic RIT1 variant (c.229G>C, p.(Ala77Pro), 16.45% VAF), both meeting criteria for pathogenicity. The RIT1 variant was validated via PCR‐RFLP across multiple tissues, excluding leukemia‐driven clonal expansion, and further quantified by high‐depth amplicon‐based sequencing. To our knowledge, this case represents a unique example of NS associated with pathogenic variants in two distinct RASopathy genes. Our findings underscore that comprehensive molecular characterization and multi‐tissue validation are essential for accurate diagnosis, genetic counseling, and personalized management, while also revealing that combinatorial RAS/MAPK alterations may influence disease severity and clinical outcomes.
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.
A novel germline NF1 splicing variant drives the onset of an anorectal mucosal melanoma in a patient with a stable and durable nivolumab response Enrico Berrino, Sara Erika Bellomo, Luca Mastorino, Valeria Morbidoni, Nicola Crosetto, Anna Sapino, Ivana Sarotto, Anita Chesta, Avallone Gianluca, Pietro Quaglino, Daniela Zampieri, Rebecca Senetta, Eva Trevisson, Caterina Marchiò, Simone Ribero Pathologica, 2025 Objective. Neurofibromatosis type-1 (NF1) patients rarely develop mucosal melanomas. We report a rare form of anorectal mucosal melanoma (ARMM) in an NF1 syndromic patient profiled for genomics and transcriptomics to assess the determinants of the response to nivolumab. Methods. Primary melanoma and metastases were analyzed with targeted sequencing and gene expression profile (tGEP). We applied in silico (cBioPortal and predictor tools) and in vitro (hybrid minigene) approaches to confirm the variant pathogenicity. Results. We detected the novel c.4269+2_4269+3delTG germline splicing variant in NF1, which proved to be pathogenic by the minigene assay showing an aberrant splicing. The tumor showed a copy-number (CN) neutral loss of heterozygosity for the WT allele, and both ARMM and metastases carried several CN gains associated with NF1-driven carcinogenesis and very low mutation burden. The tGEP analysis unveiled a macrophagic infiltration, with a pro-inflammatory M1-type polarization, in the context of lack of PD-L1 expression. Conclusions. The response to nivolumab in a germline NF1-driven ARMM case seems independent from levels of TMB and PD-L1 expression and may be mediated by inflammatory response induced by M1-polarized macrophages.
Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency María Alcázar-Fabra, Elsebet Østergaard, Daniel J.M. Fernández-Ayala, María Andrea Desbats, Valeria Morbidoni, Laura Tomás-Gallado, Laura García-Corzo, María del Mar Blanquer-Roselló, Abigail K. Bartlett, Ana Sánchez-Cuesta, Lucía Sena, Ana Cortés-Rodríguez, María Victoria Cascajo-Almenara, David J. Pagliarini, Eva Trevisson, Sabine W. Gronborg, Gloria Brea-Calvo Molecular Genetics and Metabolism Reports, 2025 Primary Coenzyme Q (CoQ) deficiency caused by COQ4 defects is a clinically heterogeneous mitochondrial condition characterized by reduced levels of CoQ 10 in tissues. Next-generation sequencing has lately boosted the genetic diagnosis of an increasing number of patients. Still, functional validation of new variants of uncertain significance is essential for an adequate diagnosis, proper clinical management, treatment, and genetic counseling. Both fibroblasts from a proband with COQ4 deficiency and a COQ4 knockout cell model have been characterized by a combination of biochemical and genetic analysis (HPLC lipid analysis, Oxygen consumption, minigene analysis, RNAseq, among others). Here, we report the case of a subject harboring a new variant of the COQ4 gene in compound heterozygosis, which shows severe clinical manifestations. We present the molecular characterization of this new pathogenic variant affecting the splicing of COQ4 . Our results highlight the importance of expanding the genetic analysis beyond the coding sequence to reduce the misdiagnosis of primary CoQ deficiency patients. • Defects in COQ4 cause the accumulation of the 3-decaprenyl-4-hydroxybenzoate. • The combination of COQ4 c.532 + 6 T > A and c.23_33del variants is disease-causing. • The combination of these variants causes defects in CoQ biosynthesis. • These variants cause a reduced ability to respond to increased energetic demand. • The COQ4 variant c.532 + 6 T > A is spliceogenic.
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
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline Katherine A. Wood, R Spencer Tong, Marialetizia Motta, Viviana Cordeddu, Eleanor R. Scimone, Stephen J. Bush, Dale W. Maxwell, Eleni Giannoulatou, Viviana Caputo, Alice Traversa, Cecilia Mancini, Giovanni B. Ferrero, Francesco Benedicenti, Paola Grammatico, Daniela Melis, Katharina Steindl, Nicola Brunetti-Pierri, Eva Trevisson, Andrew OM. Wilkie, Angela E. Lin, Valerie Cormier-Daire, Stephen RF. Twigg, Marco Tartaglia, Anne Goriely American Journal of Human Genetics, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Helene Cavé, Maria Cristina Digilio, Marco Tartaglia European Journal of Human Genetics, 2024
C16ORF70/Mytho promotes healthy ageing in C. elegans and prevents cellular senescence in mammals. Anais Franco-Romero, Valeria Morbidoni, Giulia Milan, Roberta Sartori, Jesper Wulff, Vanina Romanello, Andrea Armani, Leonardo Salviati, Maria Conte, Stefano Salvioli, Claudio Franceschi, Viviana Buonomo, Casey O. Swoboda, Paolo Grumati, Luca Pannone, Simone Martinelli, Harold B.J. Jefferies, Ivan Dikic, Jennifer van der Laan, Filipe Cabreiro, Douglas P. Millay, Sharon A. Tooze, Eva Trevisson, Marco Sandri Journal of Clinical Investigation, 2024
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells Ludovic Pelosi, Laura Morbiato, Arthur Burgardt, Fiorella Tonello, Abigail K. Bartlett, Rachel M. Guerra, Katayoun Kazemzadeh Ferizhendi, Maria Andrea Desbats, Bérengère Rascalou, Marco Marchi, Luis Vázquez-Fonseca, Caterina Agosto, Giuseppe Zanotti, Morgane Roger-Margueritat, María Alcázar-Fabra, Laura García-Corzo, Ana Sánchez-Cuesta, Plácido Navas, Gloria Brea-Calvo, Eva Trevisson, Volker F. Wendisch, David J. Pagliarini, Leonardo Salviati, Fabien Pierrel Molecular Cell, 2024
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, Pascal Joly, Justin T. Jordan, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh Genetics in Medicine, 2022
Ambra1 deficiency impairs mitophagy in skeletal muscle Lisa Gambarotto, Samuele Metti, Martina Chrisam, Cristina Cerqua, Patrizia Sabatelli, Andrea Armani, Carlo Zanon, Marianna Spizzotin, Silvia Castagnaro, Flavie Strappazzon, Paolo Grumati, Matilde Cescon, Paola Braghetta, Eva Trevisson, Francesco Cecconi, Paolo Bonaldo Journal of Cachexia Sarcopenia and Muscle, 2022
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy Valeria Morbidoni, Emanuele Agolini, Kevin C Slep, Luca Pannone, Daniela Zuccarello, Matteo Cassina, Enrico Grosso, Giorgia Gai, Leonardo Salviati, Bruno Dallapiccola, Antonio Novelli, Simone Martinelli, Eva Trevisson Journal of Medical Genetics, 2021
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation Eric Legius, Ludwine Messiaen, Pierre Wolkenstein, Patrice Pancza, Robert A. Avery, Yemima Berman, Jaishri Blakeley, Dusica Babovic-Vuksanovic, Karin Soares Cunha, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, David H. Gutmann, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Sirkku Peltonen, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Anat Stemmer-Rachamimov, David A. Stevenson, Gianluca Tadini, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Alicia Gomes, Justin T. Jordan, Victor Mautner, Vanessa L. Merker, Miriam J. Smith, David Stevenson, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Marco Giovannini, Dorothy Halliday, Chris Hammond, C.O. Hanemann, Helen Hanson, Arvid Heiberg, Pascal Joly, Michel Kalamarides, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Mia MacCollin, Conor Mallucci, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Laura Papi, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh, Susan M. Huson, D. Gareth Evans, Scott R. Plotkin Genetics in Medicine, 2021
Coenzyme Q biosynthesis disorders G. Brea-Calvo, María Alcázar-Fabra, E. Trevisson, Plácido Navas Mitochondrial Diseases Theory Diagnosis and Therapy, 2021
Wilms tumor in patients with osteopathia striata with cranial sclerosis Alicia Bach, Jingyi Mi, Matthew Hunter, Benjamin J. Halliday, Sixto García-Miñaúr, Francesca Sperotto, Eva Trevisson, David Markie, Ian M. Morison, Marwan Shinawi, Daniel N. Willis, Stephen P. Robertson European Journal of Human Genetics, 2021
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine Armstrong Bosanko, Dusica Babovic‐Vuksanovic, Laura Baker, Donald G. Basel, Mario Bengala, James T. Bennett, Chelsea Chambers, Lola K. Clarkson, Maurizio Clementi, Fanny M. Cortés, Mitch Cunningham, M. Daniela D'Agostino, Martin B. Delatycki, Maria C. Digilio, Laura Dosa, Silvia Esposito, Stephanie Fox, Mary‐Louise Freckmann, Christine Fauth, Teresa Giugliano, Sandra Giustini, Allison Goetsch, Yael Goldberg, Robert S. Greenwood, Cristin Griffis, Karen W. Gripp, Punita Gupta, Eric Haan, Rachel K. Hachen, Tamara L. Haygarth, Concepción Hernández‐Chico, Katelyn Hodge, Robert J. Hopkin, Louanne Hudgins, Sandra Janssens, Kory Keller, Geraldine Kelly‐Mancuso, Aaina Kochhar, Bruce R. Korf, Andrea M. Lewis, Jan Liebelt, Angie Lichty, Robert H. Listernick, Michael J. Lyons, Isabelle Maystadt, Mayra Martinez Ojeda, Carey McDougall, Lesley K. McGregor, Daniela Melis, Nancy Mendelsohn, Malgorzata J.M. Nowaczyk, June Ortenberg, Karin Panzer, John G. Pappas, Mary Ella Pierpont, Giulio Piluso, Valentina Pinna, Eniko K. Pivnick, Dinel A. Pond, Cynthia M. Powell, Caleb Rogers, Noa Ruhrman Shahar, S. Lane Rutledge, Veronica Saletti, Sarah A. Sandaradura, Claudia Santoro, Ulrich A. Schatz, Allison Schreiber, Daryl A. Scott, Elizabeth A. Sellars, Ruth Sheffer, Elizabeth Siqveland, John M. Slopis, Rosemarie Smith, Alberto Spalice, David W. Stockton, Haley Streff, Amy Theos, Gail E. Tomlinson, Grace Tran, Pamela L. Trapane, Eva Trevisson, Nicole J. Ullrich, Jenneke Van den Ende, Samantha A. Schrier Vergano, Stephanie E. Wallace, Michael F. Wangler, David D. Weaver, Kaleb H. Yohay, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen B. M. Claes, Marica Eoli, Yolanda Martin, Katharina Wimmer, Alessandro De Luca, Eric Legius, Ludwine M. Messiaen Human Mutation, 2020
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6 Manuel J. Acosta Lopez, Eva Trevisson, Marcella Canton, Luis Vazquez-Fonseca, Valeria Morbidoni, Elisa Baschiera, Chiara Frasson, Ludovic Pelosi, Bérengère Rascalou, Maria Andrea Desbats, María Alcázar-Fabra, José Julián Ríos, Alicia Sánchez-García, Giuseppe Basso, Placido Navas, Fabien Pierrel, Gloria Brea-Calvo, Leonardo Salviati Oxidative Medicine and Cellular Longevity, 2019
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 Sophia R. Cameron-Christie, Constance F. Wells, Marleen Simon, Marja Wessels, Candy Z.N. Tang, Wenhua Wei, Riku Takei, Coranne Aarts-Tesselaar, Sarah Sandaradura, David O. Sillence, Marie-Pierre Cordier, Hermine E. Veenstra-Knol, Matteo Cassina, Kathrin Ludwig, Eva Trevisson, Melanie Bahlo, David M. Markie, Zandra A. Jenkins, Stephen P. Robertson American Journal of Human Genetics, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P. Barnett, Troy A. Becker, Shay Ben-Shachar, Debora R. Bertola, Jaishri O. Blakeley, Emma M.M. Burkitt-Wright, Alison Callaway, Melissa Crenshaw, Karin S. Cunha, Mitch Cunningham, Maria D. D’Agostino, Karin Dahan, Alessandro De Luca, Anne Destrée, Radhika Dhamija, Marica Eoli, D. Gareth R. Evans, Patricia Galvin-Parton, Jaya K. George-Abraham, Karen W. Gripp, Jose Guevara-Campos, Neil A. Hanchard, Concepcion Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi J. Jones, Beth A. Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J. Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy Mendelsohn, David T. Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R. Plotkin, Dinel Pond, Kenneth Rosenbaum, Karol Rubin, Laura Russell, Lane S. Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W. Stockton, Eva Trevisson, Nicole J. Ullrich, Meena Upadhyaya, Rick van Minkelen, Helene Verhelst, Margaret R. Wallace, Yoon-Sim Yap, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martin, Bruce R. Korf, Eric Legius, Ludwine M. Messiaen American Journal of Human Genetics, 2018
Alport syndrome: impact of digenic inheritance in patients management C. Fallerini, M. Baldassarri, E. Trevisson, V. Morbidoni, A. La Manna, R. Lazzarin, A. Pasini, G. Barbano, A.R. Pinciaroli, G. Garosi, E. Frullanti, A.M. Pinto, M.A. Mencarelli, F. Mari, A. Renieri, F. Ariani Clinical Genetics, 2017
The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency Maria Andrea Desbats, Valeria Morbidoni, Micol Silic-Benussi, Mara Doimo, Vincenzo Ciminale, Matteo Cassina, Sabrina Sacconi, Michio Hirano, Giuseppe Basso, Fabien Pierrel, Placido Navas, Leonardo Salviati, Eva Trevisson Human Molecular Genetics, 2016
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders Delia Yubero, Raquel Montero, Miguel A. Martín, Julio Montoya, Antonia Ribes, Manuela Grazina, Eva Trevisson, Juan Carlos Rodriguez-Aguilera, Iain P. Hargreaves, Leonardo Salviati, Plácido Navas, Rafael Artuch, Cristina Jou, Cecilia Jimenez-Mallebrera, Andres Nascimento, Belén Pérez-Dueñas, Carlos Ortez, Federico Ramos, Jaume Colomer, Mar O’Callaghan, Mercè Pineda, Angels García-Cazorla, Carmina Espinós, Angels Ruiz, Alfons Macaya, Anna Marcé-Grau, Judit Garcia-Villoria, Angela Arias, Sonia Emperador, Eduardo Ruiz-Pesini, Ester Lopez-Gallardo, Viruna Neergheen, Marta Simões, Luisa Diogo, Alberto Blázquez, Adrián González-Quintana, Aitor Delmiro, Cristina Domínguez-González, Joaquín Arenas, Mª Teresa García-Silva, Elena Martín, Pilar Quijada, Aurelio Hernández-Laín, María Morán, Eloy Rivas Infante, Rainiero Ávila Polo, Carmen Paradas Lópe, Juan Bautista Lorite, Eva M. Martínez Fernández, Ana B. Cortés, Ana Sánchez-Cuesta, Maria V. Cascajo, María Alcázar, Gloria Brea-Calvo Mitochondrion, 2016
Coenzyme Q biosynthesis in health and disease Manuel Jesús Acosta, Luis Vazquez Fonseca, Maria Andrea Desbats, Cristina Cerqua, Roberta Zordan, Eva Trevisson, Leonardo Salviati Biochimica Et Biophysica Acta Bioenergetics, 2016
Primary coenzyme Q 10 deficiency presenting as fatal neonatal multiorgan failure Maria Andrea Desbats, Annalisa Vetro, Ivan Limongelli, Giada Lunardi, Alberto Casarin, Mara Doimo, Marco Spinazzi, Corrado Angelini, Giovanna Cenacchi, Alberto Burlina, Maria Angeles Rodriguez Hernandez, Lino Chiandetti, Maurizio Clementi, Eva Trevisson, Placido Navas, Orsetta Zuffardi, Leonardo Salviati European Journal of Human Genetics, 2015
P.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas Valentina Pinna, Valentina Lanari, Paola Daniele, Federica Consoli, Emanuele Agolini, Katia Margiotti, Irene Bottillo, Isabella Torrente, Alessandro Bruselles, Caterina Fusilli, Anna Ficcadenti, Sara Bargiacchi, Eva Trevisson, Monica Forzan, Sandra Giustini, Chiara Leoni, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Maurizio Clementi, Marco Tartaglia, Alessandro De Luca European Journal of Human Genetics, 2015
Expanding the mutational spectrum of LZTR1 in schwannomatosis Irene Paganini, Vivian Y Chang, Gabriele L Capone, Jeremie Vitte, Matteo Benelli, Lorenzo Barbetti, Roberta Sestini, Eva Trevisson, Theo JM Hulsebos, Marco Giovannini, Stanley F Nelson, Laura Papi European Journal of Human Genetics, 2015
Genetics of coenzyme Q10 deficiency Mara Doimo, Maria A. Desbats, Cristina Cerqua, Matteo Cassina, Eva Trevisson, Leonardo Salviati Molecular Syndromology, 2014
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency Leonardo Salviati, Eva Trevisson, Maria Angeles Rodriguez Hernandez, Alberto Casarin, Vanessa Pertegato, Mara Doimo, Matteo Cassina, Caterina Agosto, Maria Andrea Desbats, Geppo Sartori, Sabrina Sacconi, Luigi Memo, Orsetta Zuffardi, Rafael Artuch, Catarina Quinzii, Salvatore DiMauro, Michio Hirano, Carlos Santos-Ocaña, Plácido Navas Journal of Medical Genetics, 2012
Coenzyme Q deficiency in muscle Eva Trevisson, Salvatore DiMauro, Placido Navas, Leonardo Salviati Current Opinion in Neurology, 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness Saskia F. Heeringa, Gil Chernin, Moumita Chaki, Weibin Zhou, Alexis J. Sloan, Ziming Ji, Letian X. Xie, Leonardo Salviati, Toby W. Hurd, Virginia Vega-Warner, Paul D. Killen, Yehoash Raphael, Shazia Ashraf, Bugsu Ovunc, Dominik S. Schoeb, Heather M. McLaughlin, Rannar Airik, Christopher N. Vlangos, Rasheed Gbadegesin, Bernward Hinkes, Pawaree Saisawat, Eva Trevisson, Mara Doimo, Alberto Casarin, Vanessa Pertegato, Gianpietro Giorgi, Holger Prokisch, Agnès Rötig, Gudrun Nürnberg, Christian Becker, Su Wang, Fatih Ozaltin, Rezan Topaloglu, Aysin Bakkaloglu, Sevcan A. Bakkaloglu, Dominik Müller, Antje Beissert, Sevgi Mir, Afig Berdeli, Seza ϖzen, Martin Zenker, Verena Matejas, Carlos Santos-Ocaña, Placido Navas, Takehiro Kusakabe, Andreas Kispert, Sema Akman, Neveen A. Soliman, Stefanie Krick, Peter Mundel, Jochen Reiser, Peter Nürnberg, Catherine F. Clarke, Roger C. Wiggins, Christian Faul, Friedhelm Hildebrandt Journal of Clinical Investigation, 2011
Is CFTR 621+3 A>G a cystic fibrosis causing mutation? Monica Forzan, Leonardo Salviati, Vanessa Pertegato, Alberto Casarin, Alice Bruson, Eva Trevisson, Elena Di Gianantonio, Maurizio Clementi Journal of Human Genetics, 2010
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis Alberto Casarin, Jose Carlos Jimenez-Ortega, Eva Trevisson, Vanessa Pertegato, Mara Doimo, Maria Lara Ferrero-Gomez, Sara Abbadi, Rafael Artuch, Catarina Quinzii, Michio Hirano, Giuseppe Basso, Carlos Santos Ocaña, Placido Navas, Leonardo Salviati Biochemical and Biophysical Research Communications, 2008
A functionally dominant mitochondrial DNA mutation S. Sacconi, L. Salviati, Y. Nishigaki, W. F. Walker, E. Hernandez-Rosa, E. Trevisson, S. Delplace, C. Desnuelle, S. Shanske, M. Hirano, E. A. Schon, E. Bonilla, D. C. De Vivo, S. DiMauro, M. M. Davidson Human Molecular Genetics, 2008
hCOX18 and hCOX19: Two human genes involved in cytochrome c oxidase assembly Sabrina Sacconi, Eva Trevisson, Francesca Pistollato, Maria Cristina Baldoin, Roger Rezzonico, Isabelle Bourget, Claude Desnuelle, Romano Tenconi, Giuseppe Basso, Salvatore DiMauro, Leonardo Salviati Biochemical and Biophysical Research Communications, 2005
