Philippe M Campeau, M.D.
Affiliations: | 2013- | Pediatrics | Université de Montréal, Montréal, Canada |
Area:
Human GeneticsWebsite:
https://www.pcampeaulab.org/Google:
"https://scholar.google.com/citations?hl=en&user=gJ5hItoAAAAJ&sortby=pubdate&view_op=list_works&pagesize=100"Bio:
We study epilepsy, epigenetic diseases and skeletal dysplasias. We identify disease-causing genes, decipher the pathophysiology, and improve the management of children affected by these conditions.
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Publications
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| Parenti I, Lehalle D, Nava C, et al. (2021) Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human Genetics |
| Latypova X, Vincent M, Mollé A, et al. (2021) Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. American Journal of Human Genetics |
| Wakeling E, McEntagart M, Bruccoleri M, et al. (2021) Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. Hgg Advances. 2: 100015 |
| Efthymiou S, Dutra-Clarke M, Maroofian R, et al. (2021) Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. Epilepsia |
| Salian S, Benkerroum H, Nguyen TTM, et al. (2021) PIGF deficiency causes a phenotype overlapping with DOORS syndrome. Human Genetics |
| Tremblay-Laganière C, Kaiyrzhanov R, Maroofian R, et al. (2020) PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Clinical Genetics |
| Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, et al. (2020) DOORS syndrome and a recurrent truncating ATP6V1B2 variant. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Zádori D, Szalárdy L, Reisz Z, et al. (2020) Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the Gene. Frontiers in Neurology. 11: 767 |
| Collins M, Miranda V, Rousseau J, et al. (2020) A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly. Bone. 115601 |
| Humbert J, Salian S, Makrythanasis P, et al. (2020) De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. American Journal of Human Genetics |