Alessandro Mussa (A Mussa)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 31

Top Topics

Systematic Review

Hypertrophic Cardiomyopathy

Top Venues

European journal of human genetics : EJHG

Clinical genetics

American journal of medical genetics. Part A

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

Publications

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)
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)
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)
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)
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 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)
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)
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)
Alessandro Mussa, Jennifer M Kalish
Introduction to the Beckwith-Wiedemann Syndrome and Cancer Special Issue. Cancers 15 (20) (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)
Giuseppe Reynolds, Simona Cardaropoli, Diana Carli, Maria Luca, Andrea Gazzin, Paola Coppo, Roberta La Selva, Marilidia Piglionica, Rosanna Bagnulo, Antonella Turchiano, Carlotta Ranieri, Nicoletta Resta, Alessandro Mussa
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros). European journal of human genetics : EJHG (2023)
Alessandro Mussa, Antonella Turchiano, Simona Cardaropoli, Paola Coppo, Antonino Pantaleo, Rosanna Bagnulo, Carlotta Ranieri, Matteo Iacoviello, Antonella Garganese, Alessandro Stella, Stefano Gabriele Vallero, Daniele Bertin, Federica Santoro, Diana Carli, Giovanni Battista Ferrero, Nicoletta Resta
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies. Genes, chromosomes & cancer 61 (11) (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)
Diana Carli, Nicoletta Resta, Giovanbattista Giovanni Battista Ferrero, Martino Ruggieri, Alessandro Mussa
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway. American journal of medical genetics. Part C, Seminars in medical genetics (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)
Diana Carli, Giovanbattista Giovanni Battista Ferrero, Anna Fusillo, Paola Coppo, Roberta La Selva, Federica Zinali, Simona Cardaropoli, Carlotta Ranieri, Matteo Iacoviello, Nicoletta Resta, Alessandro Mussa
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. Clinical genetics 99 (5) (2021)
Diana Carli, Silvia Kalantari, Rosaria Manicone, Paola Coppo, Paola Francia di Celle, Roberta La Selva, Federica Santoro, Carlotta Ranieri, Simona Cardaropoli, Franca Fagioli, Giovanni Battista Ferrero, Nicoletta Resta, Alessandro Mussa
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum. Clinical genetics 100 (5) (2021)
Diana Carli, Chiara Bertola, Simona Cardaropoli, Valentina Pia Ciuffreda, Marta Pieretto, Giovanni Battista Ferrero, Alessandro Mussa
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing. Journal of medical genetics 58 (12) (2020)
Diana Carli, Andrea Gazzin, Maria Roberta Bongioanni, Mauro Bergui, Alessandro Mussa, Giovanbattista Giovanni Battista Ferrero
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome. American journal of medical genetics. Part A 182 (12) (2020)
Alessandro Mussa, Kelly A Duffy, Diana Carli, Jessica R Griff, Riccardo Fagiano, Jonida Kupa, Garrett M Brodeur, Giovanbattista Giovanni Battista Ferrero, Jennifer M Kalish
The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum. Journal of cancer research and clinical oncology 145 (12) (2019)
Andrea Gazzin, Diana Carli, Fabio Sirchia, Cristina Molinatto, Simona Cardaropoli, Giuseppe Palumbo, Giuseppe Zampino, Giovanni Battista Ferrero, Alessandro Mussa
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome. American journal of medical genetics. Part A 179 (9) (2019)
Alessandro Mussa, Valentina Pia Ciuffreda, Pina Sauro, Veronica Pagliardini, Severo Pagliardini, Diana Carli, Jennifer M Kalish, Franca Fagioli, Enza Pavanello, Giovanni Battista Ferrero
Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome. Cancers 11 (1) (2019)
Diana Carli, Evelise Riberi, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Syndromic Disorders Caused by Disturbed Human Imprinting Journal of clinical research in pediatric endocrinology 12 (1) (2019)
Alessandro Mussa, Kelly A Duffy, Diana Carli, Giovanni Battista Ferrero, Jennifer M Kalish
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome. Pediatric blood & cancer 66 (1) (2018)
Alessandro Mussa, Diana Carli, Simona Cardaropoli, Cristina Molinatto, Giovanni Battista Ferrero
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele. Journal of assisted reproduction and genetics 35 (10) (2018)
Alessandro Mussa, S Russo, A de Crescenzo, A Freschi, L Calzari, S Maitz, M Macchiaiolo, C Molinatto, G Baldassarre, M Mariani, L Tarani, M F Bedeschi, D Milani, D Melis, A Bartuli, M V Cubellis, A Selicorni, M C Silengo, L Larizza, A Riccio, G B Ferrero
Fetal growth patterns in Beckwith-Wiedemann syndrome. Clinical genetics 90 (1) (2016)
Alessandro Mussa, S Russo, L Larizza, A Riccio, G B Ferrero
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine. Clinical genetics 89 (4) (2015)