Jorge Diogo Da Silva

9PUBLICATIONS
37CO-AUTHORS
Immunogenetics (incl. genetic immunology)Epigenetics (incl. genome methylation and epigenomics)Computational neuroscience (incl. mathematical neuroscience and theoretical neuroscience)Infant and child healthMedical biochemistry - amino acids and metabolites
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Publications (9)

|Sep 24, 2026
Defining the Genetic and Phenotypic Landscape of Primary Immune Regulatory Disorders Using the ClinGen Validation Framework.

|Oct 14, 2025
FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition.

Isabel Serra Nunes, Maria Abreu, Jorge Diogo Da Silva

|Feb 16, 2025
Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating.

Jorge Diogo Da Silva, Nuno Maia, Paula Jorge

|Dec 05, 2023
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.

Jorge Diogo Da Silva, Ângela Pereira, Ana Rita Soares

|Sep 15, 2023
Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients.

Jorge Diogo Da Silva, Isaura Ribeiro, Carla Caseiro

|Jan 21, 2023
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).

Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko

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Frequent Collaborators

2 joint publications

Ana Rita Soares

1 joint publications

Cláudia Antunes

1 joint publications

Sónia Guerra-Gomes

1 joint publications

Nuno D Alves