Berardo Rinaldi
9PUBLICATIONS
39CO-AUTHORS
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Publications (9)
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|Jan 28, 2026
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?Alessia Carrer, Francesco Maria Crupano, Berardo Rinaldi
|Jun 27, 2024
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene.Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta
|Feb 22, 2024
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.Francesca Cogliati, Letizia Straniero, Valeria Rimoldi
|Dec 01, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.Berardo Rinaldi, Allan Bayat, Linda G Zachariassen
|Apr 10, 2023
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi
|Feb 27, 2023
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?Beatrice Conti, Berardo Rinaldi, Martina Rimoldi
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Frequent Collaborators
5 joint publications
Maria Francesca Bedeschi
2 joint publications
Allan Bayat
2 joint publications
Yun Stone Shi
2 joint publications
Laura Pezzoli
2 joint publications
Donatella Milani
2 joint publications
Maria Iascone
1 joint publications
Carolyn Brown
1 joint publications
Diane Masser-Frye
1 joint publications
Dan Wu
1 joint publications
Benedicte Gerard
