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  1. Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome

    Article • Molecular Genetics and Metabolism Reports, March 2026, Elsevier

    Dr Philippe M Campeau

  2. De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

    Article • Nature Communications, January 2026, Springer Science + Business Media

    Dr Philippe M Campeau

  3. ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

    Article • January 2026, openRxiv

    Dr Philippe M Campeau

  4. Once-Weekly Navepegritide in Children With Achondroplasia

    Article • JAMA Pediatrics, January 2026, American Medical Association (AMA)

    Dr Philippe M Campeau

  5. Expanding the GEFS+ Spectrum: Functional Characterization Of A SCN1B Variant

    Article • December 2025, Springer Science + Business Media

    Dr Philippe M Campeau

  6. Real-world experience of switching to taliglucerase among patients with Gaucher disease in Québec: A case series

    Article • Molecular Genetics and Metabolism Reports, December 2025, Elsevier

    Dr Philippe M Campeau

  7. An Elevated Birth Prevalence of Fraser Syndrome in Quebec Linked To A Founder Pathogenic Variant

    Article • November 2025, openRxiv

    Dr Philippe M Campeau

  8. Assessing In Silico Tools for Accurate Pathogenicity Prediction in CHD Nucleosome Remodelers

    Article • Journal of Molecular Biology, November 2025, Elsevier

    Dr Philippe M Campeau

  9. Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature

    Article • Molecular Genetics and Metabolism, November 2025, Elsevier

    Dr Philippe M Campeau

  10. Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report

    Article • Molecular Genetics & Genomic Medicine, November 2025, Wiley

    Dr Philippe M Campeau

  11. Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)

    Article • Orphanet Journal of Rare Diseases, October 2025, Springer Science + Business Media

    Dr Philippe M Campeau

  12. New cases expand the genotype, phenotype and therapeutic landscape of H syndrome

    Article • British Journal of Haematology, October 2025, Wiley

    Dr Philippe M Campeau

  13. Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

    Article • Nature Genetics, October 2025, Springer Science + Business Media

    Dr Philippe M Campeau

  14. PIGC-related encephalopathy: Lessons learned from 18 new probands

    Article • European Journal of Human Genetics, September 2025, Springer Science + Business Media

    Dr Philippe M Campeau

  15. Early-onset systemic lupus erythematosus-ANCA-associated vasculitis overlap syndrome caused by DNASE1L3 deficiency

    Article • Rheumatology, August 2025, Oxford University Press (OUP)

    Dr Philippe M Campeau

  16. Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

    Article • Clinical Genetics, August 2025, Wiley

    Dr Philippe M Campeau

  17. The NuRD component CHD3 promotes BMP signalling during cranial neural crest cell specification

    Article • EMBO Reports, August 2025, Springer Science + Business Media

    Dr Philippe M Campeau

  18. A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia

    Article • Nature, August 2025, Springer Science + Business Media

    Dr Philippe M Campeau

  19. Neurobehavioral profile of individuals with pathogenic variants in CHD3

    Article • European Journal of Human Genetics, August 2025, Springer Science + Business Media

    Dr Philippe M Campeau

  20. Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2-related osteoporosis

    Article • JBMR Plus, August 2025, Oxford University Press (OUP)

    Dr Philippe M Campeau

  21. Pain experience and perception in individuals with Snijders Blok-Campeau syndrome

    Article • Frontiers in Pain Research, August 2025, Frontiers

    Dr Philippe M Campeau

  22. Variable expressivity of a transmitted pathogenic KAT6B variant

    Article • European Journal of Medical Genetics, August 2025, Elsevier

    Dr Philippe M Campeau

  23. Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)

    Article • Bone, August 2025, Elsevier

    Dr Philippe M Campeau

  24. Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches

    Article • European Journal of Human Genetics, July 2025, Springer Science + Business Media

    Dr Philippe M Campeau

  25. Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

    Article • Brain, July 2025, Oxford University Press (OUP)

    Dr Philippe M Campeau

  26. Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases

    Article • July 2025, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  27. PTPN11 mutation: Orthopedic outcomes in metachondromatosis

    Article • International Journal of Case Reports in Orthopaedics, July 2025, AkiNik Publications

    Dr Philippe M Campeau

  28. Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW

    Article • Pediatric Neurology, June 2025, Elsevier

    Dr Philippe M Campeau

  29. Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice

    Article • Clinical Genetics, May 2025, Wiley

    Dr Philippe M Campeau

  30. Clinical and Genetic Characterization of 8 Patients with Syndromic Patterned Cutaneous Hypopigmentation: A Descriptive Study

    Article • Journal of Cutaneous Medicine and Surgery, May 2025, SAGE Publications

    Dr Philippe M Campeau

  31. Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10‐Related Neurodevelopmental Disorder

    Article • Clinical Genetics, March 2025, Wiley

    Dr Philippe M Campeau

  32. CHD3 Regulates BMP Signalling Response During Cranial Neural Crest Cell Specification

    Article • February 2025, Qeios Ltd

    Dr Philippe M Campeau

  33. Neurobehavioral profile of individuals with pathogenic variants in CHD3

    Article • February 2025, Springer Science + Business Media

    Dr Philippe M Campeau

  34. CHD3 regulates BMP signalling response during cranial neural crest cell specification

    Article • February 2025, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  35. Congenital Bone Disorders Associated with ERI1-Mediated RNA Metabolism Dysfunction: Spondylo-Epi-Metaphyseal Dysplasia Guo-Campeau Type and Beyond

    Article • Current Osteoporosis Reports, February 2025, Springer Science + Business Media

    Dr Philippe M Campeau

  36. Expanding PIGM‐related disorders to coding mutations

    Article • Journal of the European Academy of Dermatology and Venereology, February 2025, Wiley

    Dr Philippe M Campeau

  37. Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome

    Article • The American Journal of Human Genetics, February 2025, Elsevier

    Dr Philippe M Campeau

  38. Long-term outcomes of MPS IVA patients treated with elosulfase alfa: Findings from the Morquio A Registry Study (MARS) after 10 years

    Article • Molecular Genetics and Metabolism, February 2025, Elsevier

    Dr Philippe M Campeau

  39. Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time

    Article • Genetics in Medicine Open, January 2025, Elsevier

    Dr Philippe M Campeau

  40. Real-World Experience of Switching to Taliglucerase Among Patients with Gaucher Disease in Québec: A Case Series

    Article • January 2025, Elsevier

    Dr Philippe M Campeau

  41. Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

    Article • The American Journal of Human Genetics, January 2025, Elsevier

    Dr Philippe M Campeau

  42. P094: Dimethylglycine dehydrogenase deficiency in siblings with skeletal and neurodevelopmental manifestations

    Article • Genetics in Medicine Open, January 2025, Elsevier

    Dr Philippe M Campeau

  43. Assessing in silico Tools for Accurate Pathogenicity Prediction in CHD Nucleosome Remodelers

    Article • January 2025, Elsevier

    Dr Philippe M Campeau

  44. A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature

    Article • Ophthalmic Genetics, December 2024, Taylor & Francis

    Dr Philippe M Campeau

  45. The integral role of fibronectin in skeletal morphogenesis and pathogenesis

    Article • Matrix Biology, December 2024, Elsevier

    Dr Philippe M Campeau

  46. Fibronectin isoforms promote postnatal skeletal development

    Article • Matrix Biology, November 2024, Elsevier

    Dr Philippe M Campeau

  47. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

    Article • Pediatric Neurology, November 2024, Elsevier

    Dr Philippe M Campeau

  48. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

    Article • European Journal of Human Genetics, October 2024, Springer Science + Business Media

    Dr Philippe M Campeau

  49. Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype

    Article • Annals of Neurology, October 2024, Wiley

    Dr Philippe M Campeau

  50. Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement

    Article • Orphanet Journal of Rare Diseases, October 2024, Springer Science + Business Media

    Dr Philippe M Campeau

  51. Mutations in fibronectin dysregulate chondrogenesis in skeletal dysplasia

    Article • Cellular and Molecular Life Sciences, October 2024, Springer Science + Business Media

    Dr Philippe M Campeau

  52. Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

    Article • Human Genetics and Genomics Advances, October 2024, Elsevier

    Dr Philippe M Campeau

  53. TBC1D24 regulates mitochondria and endoplasmic reticulum-mitochondria contact sites

    Article • September 2024, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  54. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

    Article • Genetics in Medicine, September 2024, Elsevier

    ozlem sezer, Dr Philippe M Campeau

  55. A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants

    Article • Genes, August 2024, MDPI AG

    Dr Philippe M Campeau

  56. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

    Article • The American Journal of Human Genetics, July 2024, Elsevier

    Dr Philippe M Campeau

  57. Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX

    Article • European Journal of Human Genetics, June 2024, Springer Science + Business Media

    Dr Philippe M Campeau

  58. Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)

    Article • Lab Animal, June 2024, Springer Science + Business Media

    Dr Philippe M Campeau

  59. 16p13.3 homologous sequences underlie microdeletions encompassing TBC1D24 and ATP6V0C

    Article • June 2024, Springer Science + Business Media

    Dr Philippe M Campeau

  60. Bi‐allelic variants in MYH3 cause recessively‐inherited arthrogryposis

    Article • Clinical Genetics, June 2024, Wiley

    Dr Philippe M Campeau

  61. Functional studies in yeast confirm the pathogenicity of a new GINS3Meier–Gorlin syndrome variant

    Article • Clinical Genetics, May 2024, Wiley

    Dr Philippe M Campeau

  62. Homozygous variant inTKFCabolishing triokinase activities is associated with isolated immunodeficiency

    Article • Journal of Medical Genetics, May 2024, BMJ

    Dr Philippe M Campeau

  63. Author response for "Functional studies in yeast confirm the pathogenicity of a new <i>GINS3</i><scp>Meier–Gorlin</scp> syndrome variant"

    Article • April 2024, Wiley

    Dr Philippe M Campeau

  64. Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

    Article • The American Journal of Human Genetics, April 2024, Elsevier

    Dr Philippe M Campeau

  65. The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

    Article • Brain, March 2024, Oxford University Press (OUP)

    Dr Philippe M Campeau, Nourelhoda Haridy

  66. Role of Fibronectin in Postnatal Skeletal Development

    Article • February 2024, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  67. Disease-relevant mutations in Kv2.2 have drastic effects on inactivation properties of the channel

    Article • Biophysical Journal, February 2024, Elsevier

    Dr Philippe M Campeau

  68. OXR1 maintains the retromer to delay brain aging under dietary restriction

    Article • Nature Communications, January 2024, Springer Science + Business Media

    Dr Philippe M Campeau

  69. Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome

    Article • Genetics in Medicine Open, January 2024, Elsevier

    Dr Philippe M Campeau

  70. Mutations in Fibronectin Dysregulate Chondrogenesis in Corner Fracture Type Spondylometaphyseal Dysplasia

    Article • December 2023, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  71. An adult patient with Tatton–Brown–Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy

    Article • American Journal of Medical Genetics Part A, December 2023, Wiley

    Dr Philippe M Campeau

  72. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

    Article • Genetics in Medicine, November 2023, Elsevier

    Dr Philippe M Campeau

  73. Gpr18 agonist dampens inflammation, enhances myogenesis, and restores muscle function in models of Duchenne muscular dystrophy

    Article • Frontiers in Cell and Developmental Biology, August 2023, Frontiers

    Dr Philippe M Campeau

  74. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

    Article • Nature Genetics, August 2023, Springer Science + Business Media

    Dr Philippe M Campeau

  75. The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice

    Article • Genes, July 2023, MDPI AG

    Dr Philippe M Campeau

  76. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

    Article • The American Journal of Human Genetics, July 2023, Elsevier

    Dr Philippe M Campeau, Andre Megarbane

  77. The <em>ATP6V1B2 </em>DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice

    Article • June 2023, MDPI AG

    Dr Philippe M Campeau

  78. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

    Article • The American Journal of Human Genetics, June 2023, Elsevier

    Dr Philippe M Campeau

  79. The Quebec Dental Anomalies Registry: Identifying genes for rare disorders

    Article • PNAS Nexus, May 2023, Oxford University Press (OUP)

    Dr Philippe M Campeau

  80. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

    Article • Epigenomics, May 2023, Future Medicine

    Dr Philippe M Campeau

  81. 899 Phenotypic and genomic characterization of eight patients with patterned cutaneous hypopigmentation associated with extracutaneous findings

    Article • Journal of Investigative Dermatology, May 2023, Elsevier

    Dr Philippe M Campeau

  82. Biallelic variants inDNA2cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome

    Article • Journal of Medical Genetics, April 2023, BMJ

    Dr Philippe M Campeau

  83. Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals

    Article • April 2023, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  84. Development of a core outcome set for mucopolysaccharidoses (MPS) in children: Results from Delphi surveys and a consensus workshop

    Article • Molecular Genetics and Metabolism, February 2023, Elsevier

    Dr Philippe M Campeau

  85. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

    Article • Human Genetics and Genomics Advances, January 2023, Elsevier

    Dr Philippe M Campeau

  86. Erratum

    Article • Journal of Inherited Metabolic Disease, January 2023, Wiley

    Dr Philippe M Campeau

  87. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

    Article • Molecular Psychiatry, November 2022, Springer Science + Business Media

    Dr Philippe M Campeau, Andre Megarbane

  88. A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous <i>SIX6</i> Variant

    Article • Case Reports in Ophthalmology, October 2022, Karger Publishers

    Dr Philippe M Campeau

  89. ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy

    Article • Brain, September 2022, Oxford University Press (OUP)

    Dr Philippe M Campeau

  90. Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa

    Article • Molecular Genetics and Metabolism, September 2022, Elsevier

    Dr Philippe M Campeau

  91. Fibronectin isoforms in skeletal development and associated disorders

    Article • AJP Cell Physiology, August 2022, American Physiological Society

    Dr Philippe M Campeau

  92. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

    Article • Human Mutation, July 2022, Wiley

    Dr Philippe M Campeau

  93. MED27 , SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

    Article • Movement Disorders, July 2022, Wiley

    Dr Philippe M Campeau

  94. DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

    Article • International Journal of Molecular Sciences, July 2022, MDPI AG

    Dr Philippe M Campeau

  95. Ethanolamine‐phosphate on the second mannose is a preferential bridge for some GPI‐anchored proteins

    Article • EMBO Reports, May 2022, EMBO

    Dr Philippe M Campeau

  96. Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome

    Article • JCI Insight, May 2022, American Society for Clinical Investigation

    Dr Philippe M Campeau

  97. OXR1 maintains the retromer to delay brain aging under dietary restriction

    Article • April 2022, Research Square

    Dr Philippe M Campeau

  98. A Discussion With Dr. Philippe Campeau, Medical Geneticist and Clinician-Scientist

    Article • Clinical & Investigative Medicine, March 2022, University of Toronto Libraries - UOTL

    Dr Philippe M Campeau

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

    Article • Genetics in Medicine, March 2022, Elsevier

    Dr Philippe M Campeau

  100. C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures

    Article • Human Genetics, February 2022, Springer Science + Business Media

    Dr Philippe M Campeau

  101. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Article • Human Genetics and Genomics Advances, January 2022, Elsevier

    Dr Philippe M Campeau

  102. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

    Article • Human Genetics, December 2021, Springer Science + Business Media

    Dr Philippe M Campeau

  103. Variable expressivity in a family with an aggrecanopathy

    Article • Molecular Genetics & Genomic Medicine, December 2021, Wiley

    Dr Philippe M Campeau

  104. Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis

    Article • Bone Reports, December 2021, Elsevier

    Dr Philippe M Campeau

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

    Article • Bone Reports, December 2021, Elsevier

    Dr Philippe M Campeau

  106. Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys

    Article • Trials, December 2021, Springer Science + Business Media

    Dr Philippe M Campeau

  107. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

    Article • Nature Reviews Endocrinology, November 2021, Springer Science + Business Media

    Dr Philippe M Campeau

  108. Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys

    Article • Trials, November 2021, Springer Science + Business Media

    Dr Philippe M Campeau

  109. A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

    Article • November 2021, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  110. An all-encompassing variant classification system proposed

    Article • European Journal of Human Genetics, October 2021, Springer Science + Business Media

    Dr Philippe M Campeau

  111. Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1

    Article • Neurology Genetics, October 2021, Wolters Kluwer Health

    Dr Philippe M Campeau

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

    Article • October 2021, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  113. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

    Article • September 2021, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  114. Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI ‐anchored proteins

    Article • Clinical Genetics, July 2021, Wiley

    Dr Philippe M Campeau

  115. PIGG variant pathogenicity assessment reveals characteristic features within 19 families

    Article • Genetics in Medicine, June 2021, Springer Science + Business Media

    Dr Philippe M Campeau

  116. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

    Article • The American Journal of Human Genetics, June 2021, Elsevier

    Dr Philippe M Campeau

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

    Article • BMC Pediatrics, May 2021, Springer Science + Business Media

    Dr Philippe M Campeau

  118. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

    Article • Human Genetics, May 2021, Springer Science + Business Media

    Dr Philippe M Campeau, Dr Jacob L McCauley

  119. Response to Gao et al.

    Article • Genetics in Medicine, May 2021, Springer Science + Business Media

    Dr Philippe M Campeau

  120. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

    Article • The American Journal of Human Genetics, May 2021, Elsevier

    Dr Philippe M Campeau

  121. Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability

    Article • Journal of Medical Genetics, April 2021, BMJ

    Dr Philippe M Campeau

  122. Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository

    Article • Journal of Medical Genetics, April 2021, BMJ

    Dr Philippe M Campeau

  123. Free GPI is the elusive Emm antigen

    Article • Blood, April 2021, American Society of Hematology

    Dr Philippe M Campeau

  124. Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns

    Article • Nucleic Acids Research, February 2021, Oxford University Press (OUP)

    Dr Philippe M Campeau

  125. Expanding the phenotype of PIGS ‐associated early onset epileptic developmental encephalopathy

    Article • Epilepsia, January 2021, Wiley

    Dr Philippe M Campeau

  126. PIGF deficiency causes a phenotype overlapping with DOORS syndrome

    Article • Human Genetics, January 2021, Springer Science + Business Media

    Dr Philippe M Campeau

  127. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism

    Article • The American Journal of Human Genetics, January 2021, Elsevier

    Dr Philippe M Campeau

  128. Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

    Article • Human Genetics and Genomics Advances, January 2021, Elsevier

    Dr Philippe M Campeau

  129. Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Article • Genetics in Medicine, January 2021, Elsevier

    Dr Philippe M Campeau

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

    Article • Bone, December 2020, Elsevier

    Dr Philippe M Campeau

  131. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

    Article • Clinical Genetics, November 2020, Wiley

    Dr Philippe M Campeau

  132. Ethanolamine phosphate on the second mannose as bridge in GPI anchored proteins: Towards understanding inherited PIGG deficiency

    Article • November 2020, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  133. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

    Article • Genetics in Medicine, October 2020, Springer Science + Business Media

    Dr Philippe M Campeau

  134. Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

    Article • Orphanet Journal of Rare Diseases, September 2020, Springer Science + Business Media

    Dr Philippe M Campeau

  135. Biallelic variants in GLE1 with survival beyond neonatal period

    Article • Clinical Genetics, September 2020, Wiley

    Dr Philippe M Campeau

  136. DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Article • Genetics in Medicine, September 2020, Springer Science + Business Media

    Dr Philippe M Campeau

  137. Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene

    Article • Frontiers in Neurology, August 2020, Frontiers

    Dr Philippe M Campeau

  138. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature

    Article • Journal of Inherited Metabolic Disease, August 2020, Wiley

    Dr Philippe M Campeau, Dr Karen W Gripp

  139. Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7)

    Article • Bone, August 2020, Elsevier

    Dr Philippe M Campeau

  140. De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy

    Article • The American Journal of Human Genetics, August 2020, Elsevier

    Dr Philippe M Campeau

  141. MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction

    Article • JCI Insight, July 2020, American Society for Clinical Investigation

    Dr Philippe M Campeau

  142. Disrupted minor intron splicing is prevalent in Mendelian disorders

    Article • Molecular Genetics & Genomic Medicine, June 2020, Wiley

    Dr Philippe M Campeau

  143. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    Article • European Journal of Human Genetics, June 2020, Springer Science + Business Media

    Dr Philippe M Campeau

  144. The minor and major spliceosome interact to regulate alternative splicing around minor introns

    Article • May 2020, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  145. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

    Article • Genetics in Medicine, May 2020, Springer Science + Business Media

    Dr Philippe M Campeau

  146. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

    Article • The American Journal of Human Genetics, March 2020, Elsevier

    Dr Philippe M Campeau

  147. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

    Article • The American Journal of Human Genetics, March 2020, Elsevier

    Dr Philippe M Campeau

  148. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

    Article • Neuron, March 2020, Elsevier

    Dr Philippe M Campeau

  149. Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

    Article • Genetics in Medicine, March 2020, Elsevier

    Dr Philippe M Campeau

  150. The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

    Article • The American Journal of Human Genetics, February 2020, Elsevier

    Dr Philippe M Campeau

  151. Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

    Article • Science Advances, January 2020, American Association for the Advancement of Science

    Dr Philippe M Campeau

  152. Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome

    Article • American Journal of Medical Genetics Part A, December 2019, Wiley

    Dr Philippe M Campeau

  153. Genetic burden contributing to extremely low or high bone mineral density in a senior male population from the Osteoporotic Fractures in Men (MrOS) study

    Article • JBMR Plus, December 2019, Wiley

    Dr Philippe M Campeau

  154. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

    Article • Journal of Clinical Investigation, December 2019, American Society for Clinical Investigation

    Dr Philippe M Campeau

  155. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder

    Article • European Journal of Medical Genetics, December 2019, Elsevier

    Dr Philippe M Campeau

  156. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

    Article • The American Journal of Human Genetics, December 2019, Elsevier

    Dr Philippe M Campeau

  157. A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

    Article • European Journal of Human Genetics, November 2019, Springer Science + Business Media

    Dr Philippe M Campeau

  158. A de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia

    Article • European Journal of Medical Genetics, October 2019, Elsevier

    Dr Philippe M Campeau

  159. Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL

    Article • Clinical and Experimental Dermatology, September 2019, Wiley

    Dr Philippe M Campeau

  160. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

    Article • The American Journal of Human Genetics, September 2019, Elsevier

    Dr Philippe M Campeau

  161. Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1

    Article • The American Journal of Human Genetics, September 2019, Elsevier

    Dr Philippe M Campeau

  162. Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

    Article • Genetics in Medicine, September 2019, Elsevier

    Dr Philippe M Campeau

  163. Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

    Article • Journal of Medical Genetics, August 2019, BMJ

    Dr Philippe M Campeau

  164. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

    Article • Genetics in Medicine, August 2019, Springer Science + Business Media

    Dr Philippe M Campeau

  165. Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

    Article • Bone, August 2019, Elsevier

    Dr Philippe M Campeau

  166. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

    Article • The American Journal of Human Genetics, August 2019, Elsevier

    Dr Philippe M Campeau

  167. Polyhydramnios: sole risk factor for non-traumatic fractures in two infants

    Article • Bone Abstracts, July 2019, Bioscientifica

    Dr Philippe M Campeau

  168. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome

    Article • The American Journal of Human Genetics, June 2019, Elsevier

    Dr Philippe M Campeau, Dr Karen W Gripp

  169. Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants

    Article • Molecular Genetics & Genomic Medicine, May 2019, Wiley

    Dr Philippe M Campeau

  170. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

    Article • Genetics in Medicine, May 2019, Springer Science + Business Media

    Dr Philippe M Campeau

  171. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

    Article • Nature Communications, May 2019, Springer Science + Business Media

    Dr Philippe M Campeau

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

    Article • The American Journal of Human Genetics, May 2019, Elsevier

    Dr Philippe M Campeau

  173. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

    Article • The American Journal of Human Genetics, April 2019, Elsevier

    Dr Philippe M Campeau

  174. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”

    Article • Bone, April 2019, Elsevier

    Dr Philippe M Campeau

  175. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

    Article • The American Journal of Human Genetics, March 2019, Elsevier

    Dr Philippe M Campeau

  176. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

    Article • The American Journal of Human Genetics, March 2019, Elsevier

    Dr Philippe M Campeau

  177. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

    Article • Nature Communications, February 2019, Springer Science + Business Media

    Dr Philippe M Campeau

  178. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    Article • Genetics in Medicine, January 2019, Springer Science + Business Media

    Dr Philippe M Campeau

  179. Genetics of the patella

    Article • European Journal of Human Genetics, January 2019, Springer Science + Business Media

    Dr Philippe M Campeau

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

    Article • The American Journal of Human Genetics, January 2019, Elsevier

    Dr Philippe M Campeau

  181. Genomic Study of Severe Fetal Anomalies and Discovery of GREB1L Mutations in Renal Agenesis

    Article • Obstetrical & Gynecological Survey, December 2018, Wolters Kluwer Health

    Dr Philippe M Campeau

  182. BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

    Article • Nature Communications, November 2018, Springer Science + Business Media

    Dr Philippe M Campeau

  183. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    Article • Genetics in Medicine, November 2018, Springer Science + Business Media

    Dr Philippe M Campeau

  184. MYOD1 involvement in myopathy

    Article • European Journal of Neurology, November 2018, Wiley

    Dr Philippe M Campeau

  185. Mutations in the gene CHD3 can cause a language disorder with cognitive delays and a larger head.

    Article • Nature Communications, November 2018, Springer Science + Business Media

    Dr Philippe M Campeau

  186. Hot water epilepsy and SYN1 variants

    Article • Epilepsia, November 2018, Wiley

    Dr Philippe M Campeau

  187. Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype

    Article • Human Genetics, October 2018, Springer Science + Business Media

    Dr Philippe M Campeau

  188. The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

    Article • Human Molecular Genetics, October 2018, Oxford University Press (OUP)

    Dr Philippe M Campeau

  189. Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    Article • Genetics in Medicine, October 2018, Springer Science + Business Media

    Dr Philippe M Campeau, Prof Elena Gardella

  190. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

    Article • The American Journal of Human Genetics, October 2018, Elsevier

    Dr Philippe M Campeau

  191. Identification of SMARCD1 as a syndromic intellectual disability gene that is required for memory and context-dependent regulation of neuronal genes in Drosophila

    Article • September 2018, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  192. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

    Article • Genetics in Medicine, September 2018, Springer Science + Business Media

    Dr Philippe M Campeau

  193. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    Article • Genetics in Medicine, September 2018, Springer Science + Business Media

    Dr Philippe M Campeau, Prof Elena Gardella

  194. Arginase overexpression in neurons and its effect on traumatic brain injury

    Article • Molecular Genetics and Metabolism, September 2018, Elsevier

    Dr Philippe M Campeau

  195. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

    Article • Clinical Genetics, August 2018, Wiley

    Dr Philippe M Campeau

  196. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

    Article • Brain, July 2018, Oxford University Press (OUP)

    Dr Philippe M Campeau, Dr Marwan Shinawi

  197. A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism

    Article • Human Mutation, April 2018, Wiley

    Dr Philippe M Campeau

  198. Recessive mutations in >VPS13D cause childhood onset movement disorders

    Article • Annals of Neurology, April 2018, Wiley

    Dr Philippe M Campeau

  199. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

    Article • European Journal of Human Genetics, January 2018, Springer Science + Business Media

    Dr Philippe M Campeau

  200. Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

    Article • Proceedings of the National Academy of Sciences, January 2018, Proceedings of the National Academy of Sciences

    Dr Philippe M Campeau

  201. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

    Article • The American Journal of Human Genetics, January 2018, Elsevier

    Dr Philippe M Campeau

  202. FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis

    Article • Human Molecular Genetics, December 2017, Oxford University Press (OUP)

    Dr Philippe M Campeau

  203. Neural Glycosylphosphatidylinositol-Anchored Proteins in Synaptic Specification

    Article • Trends in Cell Biology, December 2017, Elsevier

    Dr Philippe M Campeau

  204. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    Article • The American Journal of Human Genetics, November 2017, Elsevier

    Dr Philippe M Campeau

  205. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

    Article • The American Journal of Human Genetics, November 2017, Elsevier

    Dr Philippe M Campeau

  206. Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

    Article • The American Journal of Human Genetics, November 2017, Elsevier

    Dr Philippe M Campeau

  207. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

    Article • Genetics in Medicine, October 2017, Springer Science + Business Media

    Dr Philippe M Campeau

  208. Genomic approaches to diagnose rare bone disorders

    Article • Bone, September 2017, Elsevier

    Dr Philippe M Campeau

  209. A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia

    Article • Molecular Genetics and Metabolism Reports, September 2017, Elsevier

    Dr Philippe M Campeau

  210. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

    Article • Genetics, September 2017, Genetics Society of America

    Dr Philippe M Campeau

  211. Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

    Article • Genetics in Medicine, July 2017, Nature

    Dr Philippe M Campeau

  212. A challenging case of hyperphosphatemic tumoral calcinosis

    Article • Bone Abstracts, July 2017, Bioscientifica

    Dr Philippe M Campeau

  213. Heterozygous variants in ACTL6A , encoding a component of the BAF complex, are associated with intellectual disability

    Article • Human Mutation, July 2017, Wiley

    Dr Marwan Shinawi, Dr Philippe M Campeau

  214. Retrospective Analysis of Congenital Scoliosis

    Article • Spine, July 2017, Wolters Kluwer Health

    Dr Philippe M Campeau

  215. A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

    Article • Journal of Bone and Mineral Research, June 2017, Wiley

    Dr Philippe M Campeau

  216. Yunis-Varón syndrome caused by biallelic VAC14 mutations

    Article • European Journal of Human Genetics, June 2017, Nature

    Dr Philippe M Campeau

  217. TBC1D24 associated with autosomal dominant tonic-clonic and myoclonic epilepsy

    Article • F1000Research, April 2017, Faculty of 1000, Ltd.

    Sampath Rangasamy, Dr Philippe M Campeau, marcus naymik, Erika Banuelos

  218. MicroRNA miR-23a cluster promotes osteocyte differentiation by regulating TGF-β signalling in osteoblasts

    Article • Nature Communications, April 2017, Nature

    Dr Philippe M Campeau

  219. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

    Article • Human Molecular Genetics, March 2017, Oxford University Press (OUP)

    Dr Philippe M Campeau

  220. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

    Article • Journal of Clinical Investigation, March 2017, American Society for Clinical Investigation

    Dr Philippe M Campeau

  221. The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence

    Article • European Journal of Medical Genetics, March 2017, Elsevier

    Dr Philippe M Campeau

  222. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and aTUBB3mutation

    Article • Molecular Case Studies, March 2017, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  223. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

    Article • Clinical Genetics, February 2017, Wiley

    Dr Philippe M Campeau

  224. Genetic Testing in a Cohort of Complex Esophageal Atresia

    Article • Molecular Syndromology, January 2017, Karger Publishers

    Dr Philippe M Campeau

  225. Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations

    Article • Molecular Syndromology, January 2017, Karger Publishers

    Dr Philippe M Campeau

  226. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

    Article • Journal of Human Genetics, December 2016, Nature

    Dr Philippe M Campeau

  227. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

    Article • The American Journal of Human Genetics, December 2016, Elsevier

    Dr Philippe M Campeau

  228. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

    Article • American Journal of Medical Genetics Part A, November 2016, Wiley

    Dr Philippe M Campeau

  229. FHF1 (FGF12) epileptic encephalopathy: Table

    Article • Neurology Genetics, October 2016, Wolters Kluwer Health

    Dr Philippe M Campeau

  230. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

    Article • The American Journal of Human Genetics, October 2016, Elsevier

    Dr Philippe M Campeau

  231. Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability

    Article • Journal of Medical Genetics, September 2016, BMJ

    Dr Philippe M Campeau

  232. TBC1D24genotype–phenotype correlation

    Article • Neurology, June 2016, Wolters Kluwer Health

    Dr Philippe M Campeau

  233. LMX1B and the Nail-Patella Syndrome

    Article • June 2016, Oxford University Press (OUP)

    Dr Philippe M Campeau

  234. Epilepsy in KCNH1-related syndromes

    Article • Epileptic Disorders, June 2016, John Libbey Eurotext

    Dr Philippe M Campeau

  235. Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

    Article • The American Journal of Human Genetics, February 2016, Elsevier

    Dr Philippe M Campeau

  236. Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests

    Article • Journal of Inherited Metabolic Disease, December 2015, Springer Science + Business Media

    Dr Philippe M Campeau

  237. Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

    Article • The American Journal of Human Genetics, May 2015, Elsevier

    Dr Philippe M Campeau, Dr Karen W Gripp

  238. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

    Article • Nature Genetics, April 2015, Nature

    Dr Philippe M Campeau

  239. Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

    Article • Journal of Medical Genetics, April 2015, BMJ

    Dr Philippe M Campeau

  240. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome

    Article • American Journal of Medical Genetics Part A, April 2015, Wiley

    Dr Philippe M Campeau

  241. FBN1contributing to familial congenital diaphragmatic hernia

    Article • American Journal of Medical Genetics Part A, March 2015, Wiley

    Dr Philippe M Campeau

  242. Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis

    Article • The Journal of Clinical Endocrinology & Metabolism, November 2014, Endocrine Society

    Dr Philippe M Campeau

  243. Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients

    Article • European Journal of Human Genetics, October 2014, Springer Science + Business Media

    Dr Philippe M Campeau

  244. Urea Cycle

    Article • October 2014, Oxford University Press (OUP)

    Dr Philippe M Campeau

  245. A longitudinal study of urea cycle disorders

    Article • Molecular Genetics and Metabolism, September 2014, Elsevier

    Dr Philippe M Campeau

  246. DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, August 2014, Wiley

    Dr Philippe M Campeau

  247. Genotype–Phenotype Correlation — Promiscuity in the Era of Next-Generation Sequencing

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, August 2014, New England Journal of Medicine (NEJM/MMS)

    Dr Philippe M Campeau

  248. Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis

    Article • AJP Gastrointestinal and Liver Physiology, June 2014, American Physiological Society

    Dr Philippe M Campeau

  249. A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers

    Article • Clinical Genetics, May 2014, Wiley

    Dr Philippe M Campeau

  250. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders

    Article • Human Molecular Genetics, March 2014, Oxford University Press (OUP)

    Dr Philippe M Campeau

  251. Myhre and LAPS syndromes: clinical and molecular review of 32 patients

    Article • European Journal of Human Genetics, January 2014, Nature

    Dr Philippe M Campeau

  252. The genetic basis of DOORS syndrome: an exome-sequencing study

    Article • The Lancet Neurology, January 2014, Elsevier

    Dr Philippe M Campeau

  253. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

    Article • Molecular Genetics and Metabolism Reports, January 2014, Elsevier

    Dr Philippe M Campeau

  254. The Undernourished Neonatal Mouse Metabolome Reveals Evidence of Liver and Biliary Dysfunction, Inflammation, and Oxidative Stress

    Article • Journal of Nutrition, December 2013, American Society for Nutrition

    Dr Philippe M Campeau

  255. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

    Article • European Journal of Medical Genetics, December 2013, Elsevier

    Dr Philippe M Campeau

  256. Osteogenesis imperfecta without features of type V caused by a mutation in theIFITM5gene

    Article • Journal of Bone and Mineral Research, October 2013, Wiley

    Dr Philippe M Campeau

  257. Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation

    Article • Journal of Bone and Mineral Research, June 2013, Wiley

    Dr Timothy T Roberts, Dr Philippe M Campeau

  258. MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development

    Article • Human Molecular Genetics, June 2013, Oxford University Press (OUP)

    Dr Philippe M Campeau

  259. A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

    Article • The American Journal of Human Genetics, June 2013, Elsevier

    Dr Philippe M Campeau

  260. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta identify a key WNT ligand regulating bone mass

    Article • Bone Abstracts, June 2013, Bioscientifica

    Dr Philippe M Campeau

  261. Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain α-ketoacid dehydrogenase kinase

    Article • Proceedings of the National Academy of Sciences, May 2013, Proceedings of the National Academy of Sciences

    Dr Philippe M Campeau

  262. WNT1Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, May 2013, New England Journal of Medicine (NEJM/MMS)

    Dr Philippe M Campeau

  263. Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

    Article • The American Journal of Human Genetics, May 2013, Elsevier

    Dr Philippe M Campeau

  264. Early childhood presentation of Czech dysplasia

    Article • Clinical Dysmorphology, April 2013, Wolters Kluwer Health

    Dr Philippe M Campeau

  265. Next-generation sequencing for disorders of low and high bone mineral density

    Article • Osteoporosis International, February 2013, Springer Science + Business Media

    Dr Philippe M Campeau

  266. Identification of Novel Mutations ConfirmsPDE4Das a Major Gene Causing Acrodysostosis

    Article • Human Mutation, February 2013, Wiley

    Dr Philippe M Campeau

  267. Identification of Novel Mutations ConfirmsPde4das a Major Gene Causing Acrodysostosis

    Article • Human Mutation, November 2012, Wiley

    Dr Philippe M Campeau

  268. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

    Article • Human Molecular Genetics, August 2012, Oxford University Press (OUP)

    Dr Philippe M Campeau

  269. TheKAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

    Article • Human Mutation, July 2012, Wiley

    Dr Philippe M Campeau

  270. Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency

    Article • Journal of Lipid Research, July 2012, American Society for Biochemistry & Molecular Biology (ASBMB)

    Dr Philippe M Campeau

  271. Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria

    Article • The American Journal of Human Genetics, May 2012, Elsevier

    Dr Philippe M Campeau

  272. miRNA-34c regulates Notch signaling during bone development

    Article • Human Molecular Genetics, April 2012, Oxford University Press (OUP)

    Dr Philippe M Campeau

  273. Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

    Article • The American Journal of Human Genetics, February 2012, Elsevier

    Dr Philippe M Campeau

  274. Requirement of argininosuccinate lyase for systemic nitric oxide production

    Article • Nature Medicine, November 2011, Nature

    Dr Philippe M Campeau

  275. Early orthotopic liver transplantation in urea cycle defects: Follow up of a developmental outcome study

    Article • Molecular Genetics and Metabolism, January 2010, Elsevier

    Dr Philippe M Campeau

  276. Management of West Syndrome in a Patient With Methylmalonic Aciduria

    Article • Journal of Child Neurology, August 2009, SAGE Publications

    Dr Philippe M Campeau

  277. Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome

    Article • Blood, July 2009, American Society of Hematology

    Dr Philippe M Campeau

  278. Long-term outcome in methylmalonic aciduria: A series of 30 French patients

    Article • Molecular Genetics and Metabolism, July 2009, Elsevier

    Dr Philippe M Campeau

  279. Mesenchymal Stromal Cells Ameliorate Experimental Autoimmune Encephalomyelitis by Inhibiting CD4 Th17 T Cells in a CC Chemokine Ligand 2-Dependent Manner

    Article • The Journal of Immunology, May 2009, The American Association of Immunologists

    Dr Philippe M Campeau

  280. Clinical Heterogeneity in Ethylmalonic Encephalopathy

    Article • Journal of Child Neurology, March 2009, SAGE Publications

    Dr Philippe M Campeau

  281. Selective Inhibition of CCR2 Expressing Lymphomyeloid Cells in Experimental Autoimmune Encephalomyelitis by a GM-CSF-MCP1 Fusokine

    Article • The Journal of Immunology, March 2009, The American Association of Immunologists

    Dr Philippe M Campeau

  282. Mesenchymal Stromal Cells Engineered to Express Erythropoietin Induce Anti-erythropoietin Antibodies and Anemia in Allorecipients

    Article • Molecular Therapy, February 2009, Elsevier

    Dr Philippe M Campeau

  283. Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature

    Article • American Journal of Medical Genetics Part A, December 2008, Wiley

    Dr Philippe M Campeau

  284. 57 Neo-organoid of mesenchymal stem cells engineered to secrete a CC-chemokine chimeric fusokine reverses EAE

    Article • Cytokine, September 2008, Elsevier

    Dr Philippe M Campeau

  285. A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism

    Article • Molecular Genetics and Metabolism, September 2008, Elsevier

    Dr Philippe M Campeau

  286. Hereditary breast cancer: new genetic developments, new therapeutic avenues

    Article • Human Genetics, June 2008, Springer Science + Business Media

    Dr Philippe M Campeau

  287. Neurotransmitter diseases and related conditions

    Article • Molecular Genetics and Metabolism, November 2007, Elsevier

    Dr Philippe M Campeau

  288. Transfection of large plasmids in primary human myoblasts

    Article • Gene Therapy, September 2001, Nature

    Dr Philippe M Campeau

  289. Functional EGFP–dystrophin fusion proteins for gene therapy vector development

    Article • Protein Engineering Design and Selection, September 2000, Oxford University Press (OUP)

    Dr Philippe M Campeau