This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a McGill University directory, so their courses may be missing. Find their university profile.
Research
Latest papers
Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.
Clinical genetics · 2026
Characterisation of Urine-Derived Cells for the Molecular Diagnosis of Rare Disorders.
International journal of molecular sciences · 2026
Tall Stature and Scoliosis Associated With a Novel Homozygous Loss-of-Function Missense Variant in NPR3.
American journal of medical genetics. Part A · 2025 · first author
Latest funding
- $990,675
A precision medicine approach for treatment of low bone mass in Klinefelter Syndrome
CIHR · 2025 · Co-investigator
- $669,375
The Role of BRIL in the Pathogenesis of Osteogenesis Imperfecta.
CIHR · 2020 · Nominated PI
- $549,170
The role of BRIL in the pathogenesis of osteogenesis imperfecta type V.
CIHR · 2014 · Nominated PI
37 publications.
Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.
Kerr L, Moffatt P, Hyer L, Nossov S, Dahan-Oliel N, Rauch F
Characterisation of Urine-Derived Cells for the Molecular Diagnosis of Rare Disorders.
Ludwig K, Wu Z, Bardai G, Marulanda J, Munns CF, Moffatt P, Rauch F
Tall Stature and Scoliosis Associated With a Novel Homozygous Loss-of-Function Missense Variant in NPR3.
Moffatt P, Janelle C, Miranda V, Bardai G, Rauch F
RNA Sequencing of Urine-Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta.
Ludwig K, Wu Z, Bardai G, Mason P, Ward LM, Moffatt P, Rauch F
Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.
Ludwig K, Ward LM, Khan N, Robinson ME, Miranda V, Bardai G, Moffatt P, Rauch F
The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts.
Maranda V, Gaumond MH, Moffatt P
Effect of human secretory calcium-binding phosphoprotein proline-glutamine rich 1 protein on Porphyromonas gingivalis and identification of its active portions.
Mary C, Fouillen A, Moffatt P, Guadarrama Bello D, Wazen RM, Grenier D, Nanci A
Muscle transcriptome in mouse models of osteogenesis imperfecta.
Moffatt P, Boraschi-Diaz I, Bardai G, Rauch F
Calvaria Bone Transcriptome in Mouse Models of Osteogenesis Imperfecta.
Moffatt P, Boraschi-Diaz I, Marulanda J, Bardai G, Rauch F
A proline rich protein from the gingival seal around teeth exhibits antimicrobial properties against Porphyromonas gingivalis.
Fouillen A, Mary C, Ponce KJ, Moffatt P, Nanci A
A precision medicine approach for treatment of low bone mass in Klinefelter Syndrome
Principal investigators: St-Arnaud, René
Keywords: Bone; Cell Differentiation; Drug Development; Klinefelter Syndrome; Medicinal Chemistry; Metabolic Bone Disease; Osteoblasts; Preclinical Testing
The Role of BRIL in the Pathogenesis of Osteogenesis Imperfecta.
Principal investigators: Moffatt, Pierre
Keywords: Bone Development; Bone Mineralization; Osteoblast; Osteogenesis Imperfecta; Rare Disease; Transgenic Mouse Models
The role of BRIL in the pathogenesis of osteogenesis imperfecta type V.
Principal investigators: Moffatt, Pierre
Keywords: Bone Physiology/Pathology; Cell Biology; Cell Culture; Micro Computed Tomography; Molecular Biology; Osteogenesis Imperfecta; Pcr; Transgenic/Knockin Mouse Models; Western Blotting
The role of BRIL in the pathogenesis of osteogenesis imperfecta type V.
Principal investigators: Moffatt, Pierre
Keywords: Bone Physiology/Pathology; Cell Biology; Cell Culture; Micro Computed Tomography; Molecular Biology; Osteogenesis Imperfecta; Pcr; Transgenic/Knockin Mouse Models; Western Blotting
The role of hyaluronan in the growth and function of the skeletal system.
Principal investigators: Roughley, Peter J
Keywords: Arthritis; Bone; Cartilage; Chondrodysplasia; Development; Growth; Hyaluronan; Knockout Mice
The effect of a hybrid and injectible Nanoparticle BMP Delivery System on Bone Regeneration during Distraction Osteogenesis
Principal investigators: Hamdy, Reggie C
Keywords: Bone Consolidation; Bone Morphogenetic Proteins; Distraction Osteogenesis; External Fixator; Gene Silencing; Immunohistochemistry; Microct; Mouse Model; Nanoparticle Delivery System; Quantum Dots
The role of hyaluronan in the growth and function of the skeletal system.
Principal investigators: Roughley, Peter J
Keywords: Arthritis; Bone; Cartilage; Chondrodysplasia; Development; Growth; Hyaluronan; Knockout Mice
The Role of Pigment Epithelium Derived Factor During Skeletal Development
Principal investigators: Rauch, Frank
Keywords: Biomineralization; Bone Development; Bone Histomorphometry; Bone Remodeling; Knock-Out Mouse
Functional and Molecular Characterization of the Novel Chondrocyte-Specific Gene Smpec
Principal investigators: Moffatt, Pierre
Keywords: Chondrocyte; Growth Plate; Membrane Protein; Molecular And Cellular Biology; Proteoglycan; Skeletal Biology; Transgenesis And Knockout
From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.
Frequent collaborators
- Human Genetics
- Stomatology
- Medicine
- Other
Co-authors at McGill University, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
Frank Rauch
Faculty
19 shared papers, latest 2026
Antonio Nanci
Stomatology
6 shared papers, latest 2021
Peter Roughley
Faculty
5 shared papers, latest 2015
Jacek Majewski
Human Genetics
4 shared papers, latest 2015
Monzur Murshed
Medicine
2 shared papers, latest 2019
Yojiro Yamanaka
Faculty
1 shared papers, latest 2018
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