Valancy Miranda

Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.

F. Rauch, P. Moffatt, L. Ward, 2022, Bone.

Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case

Philippe M. Campeau, N. Alos, M. Miron, 2021, BMC Pediatrics.

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.

Philippe M. Campeau, J. Rousseau, L. Kratz, 2020, Bone.

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

L. Vissers, N. Brown, B. D. de Vries, 2021, medRxiv.

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

L. Vissers, N. Brown, B. D. de Vries, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature

O. Mäkitie, R. Drouin, Philippe M. Campeau, 2021, Bone reports.

The Quebec Dental Anomalies Registry: Identifying genes for rare disorders

M. Schmittbuhl, Philippe M. Campeau, F. Moldovan, 2023, PNAS nexus.