Roberto Mendoza-Londono

22PUBLICATIONS
244CO-AUTHORS
Medical mycologyGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsInfant and child healthImmunogenetics (incl. genetic immunology)
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Publications (22)

|Jul 07, 2026
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

|May 05, 2026
Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.

|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer

|Jan 10, 2026
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing.

Michael P Mackley, Megan A Dickson, Anna Szuto

|Nov 11, 2024
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.

Sina Ghasempour, Neil Warner, Rei Guan

|Oct 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Karim Karimi, Denisa Weis, Ingvild Aukrust

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Frequent Collaborators

8 joint publications

Lucie Dupuis

3 joint publications

Konrad Platzer

3 joint publications

Tugce Balci

2 joint publications

Patrick R Blackburn