Philippe M Campeau

68PUBLICATIONS
422CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Medical mycologyNeurogeneticsNeurology and neuromuscular diseasesGene and molecular therapy
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Publications (68)

|Jul 16, 2026
The minor spliceosome component U4atac regulates JAK/STAT signaling to modulate hematopoiesis and immune responses in Drosophila melanogaster.

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

|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

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Sep 22, 2025
Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2-related osteoporosis.

Sandra Pihlström, Ali Oghabian, Kirsi Määttä

|Sep 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probands.

Allan Bayat, Maria Carla Borroto, Smrithi Salian

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Frequent Collaborators

4 joint publications

Paul A Wade

4 joint publications

Fowzan S Alkuraya

4 joint publications

Simon E Fisher

4 joint publications

Valancy Miranda