Chiara Leoni (C Leoni)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 70

Top Venues

Genes

American journal of medical genetics. Part A

European journal of human genetics : EJHG

American journal of medical genetics. Part C, Seminars in medical genetics

Fondazione Policlinico Universitario A. Gemelli, IRCCS

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Fondazione Policlinico Universitario A. Gemelli, IRCCS Aug 18 2014

Italy

MD, PhD :: Department of Woman and Child Health and Public Health

Publications

Francesco Proli, Elisabetta Sforza, A Faragalli, Valentina Giorgio, Chiara Leoni, Donato Rigante, Eliza Maria Kuczynska, C Veredice, D Limongelli, A Zappalà, J Rosati, M Pennuto, Valentina Trevisan, Giuseppe Zampino, Roberta Onesimo
Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome. European journal of pediatrics (2024)
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
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
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
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment. Orphanet journal of rare diseases 19 (1) (2024)
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
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (2024)
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
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment. Orphanet journal of rare diseases 19 (1) (2024)
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
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
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, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
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
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG (2024)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (2024)
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
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (2024)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (2024)
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
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
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, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
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
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
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, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
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, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG (2024)
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
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature. Genes 15 (3) (2024)
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, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
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
Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review. Children (Basel, Switzerland) 10 (9) (2023)
Andrea Gazzin, Chiara Leoni, Germana Viscogliosi, Federica Borgini, Lucrezia Perri, Matteo Iacoviello, Marilidia Piglionica, Maurizio De Pellegrin, Giovanni Battista Ferrero, Andrea Bartuli, Giuseppe Zampino, Paola Sabrina Buonuomo, Nicoletta Resta, Alessandro Mussa, null null
Work-Up and Treatment Strategies for Individuals with PIK3CA -Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association. Genes 14 (12) (2023)
Andrea Gazzin, Chiara Leoni, Germana Viscogliosi, Federica Borgini, Lucrezia Perri, Matteo Iacoviello, Marilidia Piglionica, Maurizio De Pellegrin, Giovanni Battista Ferrero, Andrea Bartuli, Giuseppe Zampino, Paola Sabrina Buonuomo, Nicoletta Resta, Alessandro Mussa, null null
Work-Up and Treatment Strategies for Individuals with PIK3CA -Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association. Genes 14 (12) (2023)
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, Tartaglia Marco, Giuseppe Zampino
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome. Genes 14 (10) (2023)
Giovanna Scorrano, Emanuele David, Elisa Cali, Roberto Chimenz, Saverio La Bella, Armando Di Ludovico, Gabriella Di Rosa, Eloisa Gitto, Kshitij Mankad, Rosaria Nardello, Giuseppe Donato Mangano, Chiara Leoni, Giorgia Ceravolo
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications. Genes 14 (12) (2023)
Roberta Onesimo, Elisabetta Sforza, Valentina Giorgio, Donato Rigante, Eliza Maria Kuczynska, Chiara Leoni, Francesco Proli, Cristiana Agazzi, D Limongelli, A Cerchiari, Tartaglia Marco, Giuseppe Zampino
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome. European journal of pediatrics (2023)
Elizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, Beth Stronach, April Anschutz, Sarah C Borrie, Benjamin Briggs, Emma Burkitt-Wright, Pau Castel, Ion C Cirstea, Fieke Draaisma, Michelle Ellis, Vanessa S Fear, Megan N Frone, Elisabetta Flex, Bruce D Gelb, Tamar Green, Karen W Gripp, Sattar Khoshkhoo, Mark W Kieran, Karolin Kleemann, Bonita P Klein-Tasman, Maria I Kontaridis, Paul S Kruszka, Chiara Leoni, Clifford Z Liu, Nadia Merchant, Pilar L Magoulas, Christopher Moertel, Carlos E Prada, Katherine A Rauen, Renée Roelofs, Rodrigue Rossignol, Christine Sevilla, Gigi Sevilla, Ryan Sheedy, Elliot Stieglitz, Daochun Sun, Dagmar Tiemens, Forest White, Ellen Wingbermühle, Cordula Wolf, Martin Zenker, Gregor Andelfinger
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy. American journal of medical genetics. Part A (2023)
Giovanna Scorrano, Emanuele David, Elisa Cali, Roberto Chimenz, Saverio La Bella, Armando Di Ludovico, Gabriella Di Rosa, Eloisa Gitto, Kshitij Mankad, Rosaria Nardello, Giuseppe Donato Mangano, Chiara Leoni, Giorgia Ceravolo
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications. Genes 14 (12) (2023)
Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Tommaso Verdolotti, Tommaso Biagini, Tommaso Mazza, Alessandro De Luca, Lucrezia Perri, Valentina Trevisan, Elisabetta Flex, Tartaglia Marco, Giuseppe Zampino
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome. Clinical genetics (2023)
Giovanna Scorrano, Emanuele David, Elisa Cali, Roberto Chimenz, Saverio La Bella, Armando Di Ludovico, Gabriella Di Rosa, Eloisa Gitto, Kshitij Mankad, Rosaria Nardello, Giuseppe Donato Mangano, Chiara Leoni, Giorgia Ceravolo
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications. Genes 14 (12) (2023)
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 C Belafsky, Giuseppe Zampino
Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes. International journal of language & communication disorders (2023)
Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Tommaso Verdolotti, Tommaso Biagini, Tommaso Mazza, Alessandro De Luca, Perri Lucrezia, Valentina Trevisan, Elisabetta Flex, Tartaglia Marco, Giuseppe Zampino
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome. Clinical genetics (2023)
Maria Luca, Diana Carli, Simona Cardaropoli, Donatella Milani, Guido Cocchi, Chiara Leoni, Marina Macchiaiolo, Andrea Bartuli, Luigi Tarani, Daniela Melis, Piera Bontempo, Gemma D'Elia, Elisabetta Prada, Raffaele Vitale, Angelina Grammegna, Pierpaola Tannorella, Angela Sparago, Laura Pignata, Andrea Riccio, Silvia Russo, Giovanni Battista Ferrero, Alessandro Mussa
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development. Cancers 15 (3) (2023)
Maria Luca, Diana Carli, Simona Cardaropoli, Donatella Milani, Guido Cocchi, Chiara Leoni, Marina Macchiaiolo, Andrea Bartuli, Luigi Tarani, Daniela Melis, Piera Bontempo, Gemma D'Elia, Elisabetta Prada, Raffaele Vitale, Angelina Grammegna, Pierpaola Tannorella, Angela Sparago, Laura Pignata, Andrea Riccio, Silvia Russo, Giovanni Battista Ferrero, Alessandro Mussa
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development. Cancers 15 (3) (2023)
Andrea Gazzin, Chiara Leoni, Germana Viscogliosi, Federica Borgini, Lucrezia Perri, Matteo Iacoviello, Marilidia Piglionica, Maurizio De Pellegrin, Giovanni Battista Ferrero, Andrea Bartuli, Giuseppe Zampino, Paola Sabrina Buonuomo, Nicoletta Resta, Alessandro Mussa, null null
Work-Up and Treatment Strategies for Individuals with PIK3CA -Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association. Genes 14 (12) (2023)
Emanuele Crincoli, Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Roberta Mattei, Marco Tartaglia, Fiammetta Catania, Stanislao Rizzo, Giuseppe Zampino, Annabella Salerni
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation. American journal of medical genetics. Part A (2023)
Roberta Onesimo, Elisabetta Sforza, Valentina Giorgio, Germana Viscogliosi, Eliza Maria Kuczynska, Gaia Margiotta, Lucrezia Perri, Domenico Limongelli, Francesco Proli, Cristina De Rose, Donato Rigante, Antonella Cerchiari, Tartaglia Marco, Chiara Leoni, Giuseppe Zampino
The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome. Genes 14 (7) (2023)
Chiara Leoni, Filomena Valentina Paradiso, Nazario Foschi, Marta Tedesco, Francesco Pierconti, Sara Silvaroli, Mario Di Diego, Lisa Birritella, Francesca Pantaleoni, Claudia Rendeli, Roberta Onesimo, Germana Viscogliosi, Pierfrancesco Bassi, Lorenzo Nanni, Maurizio Genuardi, Tartaglia Marco, Giuseppe Zampino
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making. Clinical genetics 101 (4) (2022)
Manuela Priolo, Valentina Palermo, Francesca Aiello, Andrea Ciolfi, Luca Pannone, Valentina Muto, Marialetizia Motta, Cecilia Mancini, Francesca Clementina Radio, Marcello Niceta, Chiara Leoni, Letizia Pintomalli, Rosalba Carrozzo, Giuseppe Rajola, Corrado Mammì, Giuseppe Zampino, Simone Martinelli, Bruno Dallapiccola, Pietro Pichierri, Tartaglia Marco
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction. Clinical genetics 102 (1) (2022)
Roberta Onesimo, Valentina Giorgio, Germana Viscogliosi, Elisabetta Sforza, Eliza Kuczynska, Gaia Margiotta, Mariella Iademarco, Francesco Proli, Donato Rigante, Giuseppe Zampino, Chiara Leoni
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review. American journal of medical genetics. Part C, Seminars in medical genetics 190 (4) (2022)
Diana Carli, Matteo Operti, Silvia Russo, Guido Cocchi, Donatella Milani, Chiara Leoni, Elisabetta Prada, Daniela Melis, Mariateresa Falco, Jennifer Spina, Vera Uliana, Osimani Sara, Fabio Sirchia, Luigi Tarani, Marina Macchiaiolo, Flavia Cerrato, Angela Sparago, Laura Pignata, Pierpaola Tannorella, Simona Cardaropoli, Andrea Bartuli, Andrea Riccio, Giovanni Battista Ferrero, Alessandro Mussa
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques. Clinical genetics 102 (4) (2022)
Roberta Onesimo, Angelica Bibiana Delogu, Rita Blandino, Chiara Leoni, Jessica Rosati, Marcella Zollino, Giuseppe Zampino
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation. American journal of medical genetics. Part A 188 (7) (2022)
Roberta Onesimo, Valentina Giorgio, Germana Viscogliosi, Elisabetta Sforza, Eliza Kuczynska, Gaia Margiotta, Mariella Iademarco, Francesco Proli, Donato Rigante, Giuseppe Zampino, Chiara Leoni
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review. American journal of medical genetics. Part C, Seminars in medical genetics 190 (4) (2022)
Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun Helen Chen, Kathryn J Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti-Pierri, Bénédicte Gérard, Emmanuelle Ginglinger, Julie Richer, Hugh J Mcmillan, Alexandre White-Brown, Kendra Hoekzema, Raphael A Bernier, Evangeline C Kurtz-Nelson, Rachel K Earl, Claartje Meddens, Marielle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G Monaghan, Michelle M Morrow, Evan E Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders. Science advances 8 (33) (2022)
Roberta Onesimo, Valentina Giorgio, Germana Viscogliosi, Elisabetta Sforza, Eliza Kuczynska, Gaia Margiotta, Mariella Iademarco, Francesco Proli, Donato Rigante, Giuseppe Zampino, Chiara Leoni
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Maria Ines Kavamura, Chiara Leoni, Giovanni Neri
Dermatological manifestations, management, and care in RASopathies. American journal of medical genetics. Part C, Seminars in medical genetics 190 (4) (2022)
Maria Ines Kavamura, Chiara Leoni, Giovanni Neri
Dermatological manifestations, management, and care in rasopathies. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Maria Ines Kavamura, Chiara Leoni, Giovanni Neri
Dermatological manifestations, management, and care in RASopathies. American journal of medical genetics. Part C, Seminars in medical genetics 190 (4) (2022)
Chiara Leoni, Germana Viscogliosi, Marco Tartaglia, Yoko Aoki, Giuseppe Zampino
Multidisciplinary Management of Costello Syndrome: Current Perspectives. Journal of multidisciplinary healthcare 15 (2022)
Daniel L Kenney-Jung, Dante J Rogers, Samuel J Kroening, Abigail L Zatkalik, Ashley E Whitmarsh, Amy E Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Tartaglia Marco, Domenica I Battaglia, Elizabeth I Pierpont
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Maria Ines Kavamura, Chiara Leoni, Giovanni Neri
Dermatological manifestations, management, and care in RASopathies. American journal of medical genetics. Part C, Seminars in medical genetics 190 (4) (2022)
Chiara Leoni, Valentina Giorgio, Giuseppe Stella, Roberta Onesimo, Elizabeth K A Triumbari, Maria Podagrosi, Eliza Kuczynska, Catello Vollono, Keith J Lindley, Giuseppe Zampino
Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity? American journal of medical genetics. Part A 188 (11) (2022)
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D Irvine, Nicoletta Resta
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. Journal of medical genetics (2022)
Roberta Onesimo, Valentina Giorgio, Germana Viscogliosi, Elisabetta Sforza, Eliza Kuczynska, Gaia Margiotta, Mariella Iademarco, Francesco Proli, Donato Rigante, Giuseppe Zampino, Chiara Leoni
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review. American journal of medical genetics. Part C, Seminars in medical genetics 190 (4) (2022)
David A Stevenson, Germana Viscogliosi, Chiara Leoni
Bone health in RASopathies. American journal of medical genetics. Part C, Seminars in medical genetics (2022)
Chiara Leoni, Cristian Bisanti, Germana Viscogliosi, Roberta Onesimo, Miriam Massese, Valentina Giorgio, Fabio Corbo, Anna Acampora, Clelia Cipolla, Elisabetta Flex, Claudia Dell'Atti, Donato Rigante, Tartaglia Marco, Giuseppe Zampino
Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4-year follow-up study. American journal of medical genetics. Part A 188 (2) (2021)
Roberta Onesimo, Paolo Versacci, Angelica Bibiana Delogu, Gabriella De Rosa, Flaminia Pugnaloni, Rita Blandino, Chiara Leoni, Giulio Calcagni, Maria C Digilio, Marcella Zollino, Bruno Marino, Giuseppe Zampino
Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature. American journal of medical genetics. Part A 185 (7) (2021)
Chiara Leoni, Rita Blandino, Angelica Bibiana Delogu, Gabriella De Rosa, Roberta Onesimo, Valeria Verusio, Maria Vittoria Marino, Gaetano Antonio Lanza, Donato Rigante, Tartaglia Marco, Giuseppe Zampino
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature review. American journal of medical genetics. Part A (2021)
Chiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, Mariangela Di Già, Roberta Onesimo, Valentina Giorgio, Elisabetta Flex, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina, Giuseppe Zampino
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status. Orphanet journal of rare diseases 16 (1) (2021)
Maria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, Carla Cesarano, Maria Cristina Digilio, Monia Magliozzi, Daniela Rogaia, Amedea Mencarelli, Chiara Leoni, Carmelo Piscopo, Valentina Imperatore, Maria Teresa Falco, Paolo Fontana, Anna Maria Nardone, Antonio Novelli, Stefania Troiani, Marco Seri, Paolo Prontera
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype. American journal of medical genetics. Part A 185 (4) (2021)
Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Cristian Bisanti, Miriam Massese, Valentina Giorgio, Fabio Corbo, Marta Tedesco, Anna Acampora, Clelia Cipolla, Claudia Dell'Atti, Elisabetta Flex, Jacopo Gervasoni, Aniello Primiano, Donato Rigante, Tartaglia Marco, Giuseppe Zampino
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome. American journal of medical genetics. Part A (2021)
Ilaria Parenti, Mark B Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Emanuele Agolini, Beate Albrecht, Carolina Baquero-Montoya, Axel Bohring, Nuria C Bramswig, Andreas Busche, Andreas Dalski, Yiran Guo, Britta Hanker, Yorck Hellenbroich, Denise Horn, A Micheil Innes, Chiara Leoni, Yun R Li, Sally-Ann Lynch, Milena Mariani, Livija Medne, Barbara Mikat, Donatella Milani, Roberta Onesimo, Xilma R Ortiz-González, Eva Christina Prott, Heiko Martin Reutter, Eva Rossier, Angelo Selicorni, Peter Wieacker, Alisha Wilkens, Dagmar Wieczorek, Elaine H Zackai, Giuseppe Zampino, Birgit Zirn, Hakon H Hakonarson, Matthew A Deardorff, Gabriele Gillessen-Kaesbach, Frank J Kaiser
ANKRD11 variants: KBG syndrome and beyond. Clinical genetics 100 (2) (2021)
Chiara Leoni, Valentina Giorgio, Roberta Onesimo, Luigi Tarani, Mauro Celli, Angelo Selicorni, Giuseppe Zampino
The dark side of COVID-19: The need of integrated medicine for children with special care needs. American journal of medical genetics. Part A 182 (8) (2020)
Chiara Leoni, C Guerriero, R Onesimo, V Coco, C Di Ruscio, A Acampora, I Esposito, A Romano, M Tartaglia, M Genuardi, G Zampino
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles. Journal of the European Academy of Dermatology and Venereology : JEADV 35 (1) (2020)
Chiara Leoni, Valentina Giorgio, Roberta Onesimo, Eliza Kuczynska, Giuseppe Zampino
Impact of Costello syndrome on growth patterns. American journal of medical genetics. Part A 182 (11) (2020)
Chiara Leoni, Giuseppe Gullo, Nicoletta Resta, Anna Fagotti, Roberta Onesimo, Brian Schwartz, Julia Kazakin, Giovanni Abbadessa, John Crown, Conor D Collins, Carlotta Ranieri, Giovanni Scambia, Giuseppe Zampino
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma. American journal of medical genetics. Part A 179 (7) (2019)
Marcello Niceta, Domenico Barbuti, Neerja Gupta, Carlos Ruggiero, Eduardo F Tizzano, Luitgard Graul-Neumann, Sabina Barresi, Gen Nishimura, Maria Irene Valenzuela Palafoll, Fermina López-Grondona, Paula Fernandez-Alvarez, Chiara Leoni, Christiane Zweier, Andreas Tzschach, Emilia Stellacci, Andrea Del Fattore, Bruno Dallapiccola, Giuseppe Zampino, Marco Tartaglia
Skeletal abnormalities are common features in Aymé-Gripp syndrome. Clinical genetics 97 (2) (2019)
Chiara Leoni, Elizabeth Katherine Anna Triumbari, Catello Vollono, Roberta Onesimo, Maria Podagrosi, Valentina Giorgio, Eliza Kuczynska, Stefania Veltri, Marco Tartaglia, Giuseppe Zampino
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients. American journal of medical genetics. Part A 179 (6) (2019)
Chiara Leoni, Roberta Onesimo, Nicoletta Resta, Maria L Patti, Rita De Santis, Rosanna Bagnulo, Luca Russo, Riccardo Manfredi, Maurizio Genuardi, Giuseppe Zampino
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. Clinical genetics 96 (1) (2019)

Chiara Leoni.css-eqlu8i{font-size:small;padding-left:4px;} (C Leoni)

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Chiara Leoni (C Leoni)