Filippo Vairo

26PUBLICATIONS
128CO-AUTHORS
Genome structure and regulationMedical biochemistry - inorganic elements and compoundsDevelopmental genetics (incl. sex determination)Pharmaceutical delivery technologiesPredictive and prognostic markers
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Publications (26)

|Sep 09, 2026
A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

|Apr 13, 2026
Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype.

Graeme Preston, Ibrahim Shammas, Filippo Pinto E Vairo

|Sep 13, 2025
Clinical and Genetic Predictors of Non-Alcoholic Steatotic Liver Disease and Fibrosis in Lean Individuals.

Karina Sato-Espinoza, Robert A Vierkant, Perapa Chotiprasidhi

|Aug 13, 2025
Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.

Matheus Vernet Machado Bressan Wilke, Deepak Panwar, Johannes M Verheijen

|May 19, 2025
Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.

Susan M McAnallen, Elhussein A E Elhassan, Sinead Stoneman

|Feb 05, 2025
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.

Bruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg

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Frequent Collaborators

4 joint publications

Fabiano Poswar

4 joint publications

Francyne Kubaski

3 joint publications

Guilherme Baldo

2 joint publications

Eric W Klee