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Publications by Philippe M. Campeau

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

American Journal of Human Genetics
Genetics
2019English

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

American Journal of Human Genetics
Genetics
2019English

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics
Genetics
2019English

MicroRNA miR-23a Cluster Promotes Osteocyte Differentiation by Regulating TGF-β Signalling in Osteoblasts

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2017English

Clinical and Molecular Characterization of a Severe Form of Partial Lipodystrophy Expanding the Phenotype of PPARγ Deficiency

Journal of Lipid Research
BiochemistryEndocrinologyCell Biology
2012English

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