Jorge Diogo Cruz Ramos da Silva
AuthID: R-00K-YAA
1
TITLE: Medical and ethical challenges in low penetrance copy number variants management: state-of-the-art in the Portuguese Clinical Genetics community
AUTHORS: Ana Soares; Jorge Diogo Da Silva; Alberto Afonso; Ana Carvalho;
PUBLISHED: 2025
AUTHORS: Ana Soares; Jorge Diogo Da Silva; Alberto Afonso; Ana Carvalho;
PUBLISHED: 2025
2
TITLE: Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating
AUTHORS: Da Silva, Jorge Diogo; Maia, Nuno; Jorge, Paula; Sousa, Vanessa; Tkachenko, Nataliya; Soares, Ana Rita;
PUBLISHED: 2025, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 62, ISSUE: 4
AUTHORS: Da Silva, Jorge Diogo; Maia, Nuno; Jorge, Paula; Sousa, Vanessa; Tkachenko, Nataliya; Soares, Ana Rita;
PUBLISHED: 2025, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 62, ISSUE: 4
INDEXED IN: 
WOS
WOS3
TITLE: A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)
AUTHORS: Da Silva, Jorge Diogo; Oliva Teles, Natalia ; Tkachenko, Nataliya; Fino, Joana; Marques, Mariana; Fortuna, Ana Maria; David, Dezso ;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 1
AUTHORS: Da Silva, Jorge Diogo; Oliva Teles, Natalia ; Tkachenko, Nataliya; Fino, Joana; Marques, Mariana; Fortuna, Ana Maria; David, Dezso ;
PUBLISHED: 2023, SOURCE: BIOMEDICINES, VOLUME: 11, ISSUE: 1
