Berardo Rinaldi

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 11

Top Topics

Autism Spectrum Disorder

Ejection Fraction

Top Venues

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

American journal of medical genetics. Part A

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

Publications

Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene. Genes 15 (6) (2024)
Francesca Cogliati, Letizia Straniero, Valeria Rimoldi, Maura Masciadri, Sara Perego, Berardo Rinaldi, Donatella Milani, Davide Gentilini, Lidia Larizza, Rosanna Asselta, Silvia Russo, Maria Francesca Bedeschi
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (2024)
Francesca Cogliati, Letizia Straniero, Valeria Rimoldi, Maura Masciadri, Sara Perego, Berardo Rinaldi, Donatella Milani, Davide Gentilini, Lidia Larizza, Rosanna Asselta, Silvia Russo, Maria Francesca Bedeschi
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 195 (6) (2024)
Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene. Genes 15 (6) (2024)
Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene. Genes 15 (6) (2024)
Beatrice Conti, Berardo Rinaldi, Martina Rimoldi, Roberta Villa, Maria Iascone, Silvana Gangi, Matteo Porro, Paola Francesca Ajmone, Anna Maria Colli, Fabio Mosca, Maria Francesca Bedeschi
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies? American journal of medical genetics. Part A (2023)
Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, Chiara Dordoni, Berardo Rinaldi, Francesca Peluso, Stefano Giuseppe Caraffi, Federico Prefumo, Marino Signorelli, Matteo Zanzucchi, Silvia Bione, Claudia Ghigna, Silvia Sassi, Antonio Novelli, Enza Maria Valente, Andrea Superti-Furga, Livia Garavelli, Edoardo Errichiello
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3. Clinical genetics (2023)
Beatrice Conti, Berardo Rinaldi, Martina Rimoldi, Roberta Villa, Maria Iascone, Silvana Gangi, Matteo Porro, Paola Francesca Ajmone, Anna Maria Colli, Fabio Mosca, Maria Francesca Bedeschi
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies? American journal of medical genetics. Part A (2023)
Berardo Rinaldi, Claudia Cesaretti, Simona Boito, Roberta Villa, Silvana Guerneri, Irene Borzani, Tommaso Rizzuti, Daniela Marchetti, Giorgio Conte, Claudia Cinnante, Fabio Triulzi, Nicola Persico, Maria Iascone, Federica Natacci
Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome. Prenatal diagnosis 42 (7) (2022)
Berardo Rinaldi, Roberta Villa, Alessandra Sironi, Livia Garavelli, Palma Finelli, Maria Francesca Bedeschi
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders. Genes 13 (2) (2022)
Jia-Hui Sun, Jiang Chen, Fernando Eduardo Ayala Valenzuela, Carolyn M Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Berardo Rinaldi, Wenhui Laura Li, Qing-Qing Li, Dan Wu, Bénédicte Gérard, Erin Thorpe, Carolina Alvarez, Yun Stone Shi
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3. PLoS genetics 17 (6) (2021)