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European Journal of Medical Genetics|May 10, 2023
SMARCE1-related meningiomas: A clear example of cancer predisposing syndromeErika Fiorentini, Laura Giunti, Andrea Di Rita, et al.
Plos Genetics|June 23, 2021
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3Jia-Hui Sun, Jiang Chen, Fernando Eduardo Ayala Valenzuela, et al.
Genes & Genomics|December 1, 2022
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiologyGiada Moresco, Ornella Rondinone, Alessia Mauri, et al.
Clinical Genetics|April 10, 2023
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, et al.
Human Genetics|January 15, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variantKohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, et al.
Orphanet Journal of Rare Diseases|July 17, 2025
Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiencesAnna Elsa Maria Allegri, Maria Francesca Bedeschi, Maria Beatrice Bocchi, et al.
Genes|January 28, 2026
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?Alessia Carrer, Francesco Maria Crupano, Berardo Rinaldi, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
Molecular Psychiatry|June 13, 2022
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in humanShi-Xiao Peng, Jingwen Pei, Berardo Rinaldi, et al.
Brain : a Journal of Neurology|December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesBerardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
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