Philippe M. Campeau
Université de Montréal
Exome sequencingMutationGeneticsMedicineBiology
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Publications 136
#1Gabrielle Lemire (UdeM: Université de Montréal)H-Index: 1
#2Eliane Beauregard-Lacroix (UdeM: Université de Montréal)H-Index: 2
Last. M. Delrue (UdeM: Université de Montréal)H-Index: 1
view all 11 authors...
Our objectives were to describe fetal cases of vertebral defects (VD), assess the diagnostic yield of fetal chromosomal analysis for VD and determine which investigations should be performed when evaluating fetal VD. We performed a retrospective chart review for fetuses with VD seen between 2006 and 2015. Cases were identified from CHU Sainte-Justine's prenatal clinic visits, postmortem fetal skeletal surveys, and medical records. Cases with neural tube defects were excluded. Sixty-six fetuses w...
#2Smrithi Salian (UdeM: Université de Montréal)H-Index: 1
Last. Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
view all 12 authors...
Neonatal progeroid syndrome, also known as Wiedemann–Rautenstrauch syndrome, is a rare condition characterized by severe growth retardation, apparent macrocephaly with prominent scalp veins, and lipodystrophy. It is caused by biallelic variants in POLR3A, a gene encoding for a subunit of the RNA polymerase III. All variants reported in the literature lead to at least a partial loss-of-function (when considering both alleles together). Here, we describe an individual with several clinical feature...
1 CitationsSource
#1Kym M. Boycott (U of O: University of Ottawa)H-Index: 37
#2Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
Last. Howard D. Lipshitz (U of T: University of Toronto)H-Index: 42
view all 32 authors...
Advances in genomics have transformed our ability to identify the genetic causes of rare diseases (RDs), yet we have a limited understanding of the mechanistic roles of most genes in health and disease. When a novel RD gene is first discovered, there is minimal insight into its biological function, the pathogenic mechanisms of disease-causing variants, and how therapy might be approached. To address this gap, the Canadian Rare Diseases Models and Mechanisms (RDMM) Network was established to conn...
#1Lin LiH-Index: 4
#2Mohammad GhorbaniH-Index: 5
Last. Xiang-Jiao YangH-Index: 31
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Epigenetic integrity is critical for many eukaryotic cellular processes. An important question is how different epigenetic regulators control development and influence disease. Lysine acetyltransferase 8 (KAT8) is critical for acetylation of histone H4 at lysine 16 (H4K16), an evolutionarily conserved epigenetic mark. It is unclear what roles KAT8 plays in cerebral development and human disease. Here, we report that cerebrum-specific knockout mice displayed cerebral hypoplasia in the neocortex a...
#1Shan Chen (BCM: Baylor College of Medicine)H-Index: 10
#2Mahim Jain (BCM: Baylor College of Medicine)H-Index: 16
Last. Brendan Lee (BCM: Baylor College of Medicine)H-Index: 64
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Worldwide, one in five men aged over 50 years will experience osteoporosis or a clinical bone fracture, with a greater fracture-related mortality rate than women. However, the genetic etiology of osteoporosis in men is still poorly understood. We aimed to identify the genetic variants and candidate genes associated with extremely low or high BMD for a better understanding of the biology underlying low bone density that may point to potential therapeutic targets for increasing bone mass. Subjects...
#1Steven Mumm (WashU: Washington University in St. Louis)H-Index: 32
#2Gary S. Gottesman (Shriners Hospitals for Children)H-Index: 7
Last. Michael P. Whyte (WashU: Washington University in St. Louis)H-Index: 65
view all 14 authors...
Abstract Bruck syndrome (BRKS) is the rare disorder that features congenital joint contractures often with pterygia and subsequent fractures, early on called osteogenesis imperfecta (OI) type XI (OMIM # 610968 ). Its two forms, BRKS1 (OMIM # 259450 ) and BRKS2 (OMIM # 609220 ), reflect autosomal recessive (AR) inheritance of FKBP10 and PLOD2 loss-of-function mutations, respectively. A 10-year-old girl was referred with blue sclera, osteopenia, poorly-healing fragility fractures, Wormian skull bo...
#1Julia Wang (BCM: Baylor College of Medicine)H-Index: 5
#2Justine RousseauH-Index: 8
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We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in Oxidative Resistance 1 (OXR1) in five individuals from three families; these individuals presented with a history of severe global developmental delay, current intellectual disability, language delay, cerebellar atrophy, and seizures. While OXR1 is known to play a role in oxidative stress resistance, its molecular functio...
#1Miles D. Thompson (UCSD: University of California, San Diego)H-Index: 20
#1Miles D. Thompson (UCSD: University of California, San Diego)H-Index: 2
Last. C. Charlton Mabry (UK: University of Kentucky)H-Index: 9
view all 14 authors...
#1Lot Snijders Blok (Radboud University Nijmegen)H-Index: 4
#3Justine RousseauH-Index: 8
Last. Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
view all 79 authors...
The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.
#1Marjolaine Champagne (UdeM: Université de Montréal)
#2Patricia Olivier (UdeM: Université de Montréal)H-Index: 2
Last. Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
view all 7 authors...
Abstract Multiple epiphyseal dysplasia (MED) is a genetically and clinically heterogeneous disease with both dominant and recessive inheritance. Eight different genes are known to cause the disease but in 15% of cases of MED, no mutation is found. Fibroblast growth factor receptor 1 (FGFR1) is a crucial regulator of bone formation and when mutated, can cause diseases with skeletal manifestations; nevertheless, MED has not been described in individuals with FGFR1 mutations. In this report, we des...