Bragança J, Pinto R, Silva B, Marques N, Leitão HS, Fernandes MT – Charting the path: navigating embryonic development to potentially safeguard against congenital heart defects – J. Pers. Med. (2023), 13, 1263.

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Pinto RLC, Viaggi S, Canale E, Popple MM , CapraV, Conteduca G, Testa B, Coviello D and Covone AE -  Exome analysis reveals novel missense and deletion variants in the CC2D2A gene as causative of Joubert Syndrome - Genes (2023) 14, 810.

 

Conteduca G, Cangelosi D, Coco S, Malacarne M, Baldo C, Arado A, Pinto R, Testa B, Coviello DA - NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint – Life (Basel)  (2022), 12, 988.

 

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