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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 22, 2024
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndromeFrancesca Cogliati, Letizia Straniero, Valeria Rimoldi, et al.
American Journal of Medical Genetics. Part A|February 27, 2023
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?Beatrice Conti, Berardo Rinaldi, Martina Rimoldi, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|November 30, 2023
Optical coherence tomography angiography findings in Williams-Beuren syndromeMarco Nassisi, Claudia Mainetti, Andrea Sperti, et al.
Prenatal Diagnosis|July 5, 2022
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findingsLuisa Ronzoni, Simona Boito, Camilla Meossi, et al.
American Journal of Medical Genetics. Part A|November 23, 2022
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two casesMartina Rimoldi, Berardo Rinaldi, Roberta Villa, et al.
Prenatal Diagnosis|May 18, 2022
Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus SyndromeBerardo Rinaldi, Claudia Cesaretti, Simona Boito, et al.
Orphanet Journal of Rare Diseases|April 13, 2017
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task forceBerardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, et al.
Italian Journal of Pediatrics|August 25, 2024
Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literatureIrene Picciolli, Angelo Ratti, Berardo Rinaldi, et al.
Neurogenetics|November 3, 2021
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 geneBerardo Rinaldi, Yu-Han Ge, Elena Freri, et al.
European Journal of Medical Genetics|February 15, 2020
Next-generation sequencing in prenatal setting: Some examples of unexpected variant associationBerardo Rinaldi, Valerie Race, Anniek Corveleyn, et al.
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