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  1. 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

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

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

    Dr Philippe M Campeau, Nourelhoda Haridy

  3. Role of Fibronectin in Postnatal Skeletal Development

    Article • February 2024, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

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

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

    Dr Philippe M Campeau

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

    Article • December 2023, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  6. 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

  7. 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

  8. 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

  9. 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

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

    Article • Genes, July 2023, MDPI AG

    Dr Philippe M Campeau

  11. 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

  12. 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

  13. 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

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

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

    Dr Philippe M Campeau

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. Fibronectin isoforms in skeletal development and associated disorders

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

    Dr Philippe M Campeau

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

    Article • Human Mutation, July 2022, Wiley

    Dr Philippe M Campeau

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

    Article • Movement Disorders, July 2022, Wiley

    Dr Philippe M Campeau

  26. DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

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

    Dr Philippe M Campeau

  27. 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

  28. 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

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

    Article • April 2022, Research Square

    Dr Philippe M Campeau

  30. 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

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

    Article • Genetics in Medicine, March 2022, Elsevier

    Dr Philippe M Campeau

  32. 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

  33. 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

  34. 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

  35. Variable expressivity in a family with an aggrecanopathy

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

    Dr Philippe M Campeau

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

    Article • Bone Reports, December 2021, Elsevier

    Dr Philippe M Campeau

  37. 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

  38. 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

  39. 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

  40. 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

  41. 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

  42. An all-encompassing variant classification system proposed

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

    Dr Philippe M Campeau

  43. 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

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

    Article • October 2021, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

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

    Article • September 2021, Cold Spring Harbor Laboratory Press

    Dr Philippe M Campeau

  46. 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

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

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

    Dr Philippe M Campeau

  48. 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

  49. 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

  50. 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

  51. Response to Gao et al.

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

    Dr Philippe M Campeau

  52. 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

  53. 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

  54. 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

  55. Free GPI is the elusive Emm antigen

    Article • Blood, April 2021, American Society of Hematology

    Dr Philippe M Campeau

  56. 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

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

    Article • Epilepsia, January 2021, Wiley

    Dr Philippe M Campeau

  58. PIGF deficiency causes a phenotype overlapping with DOORS syndrome

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

    Dr Philippe M Campeau

  59. 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

  60. 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

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

    Article • Genetics in Medicine, January 2021, Elsevier

    Dr Philippe M Campeau

  62. 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

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

    Article • Clinical Genetics, November 2020, Wiley

    Dr Philippe M Campeau

  64. 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

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

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

    Dr Philippe M Campeau

  66. 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

  67. Biallelic variants in GLE1 with survival beyond neonatal period

    Article • Clinical Genetics, September 2020, Wiley

    Dr Philippe M Campeau

  68. DOORS syndrome and a recurrent truncating ATP6V1B2 variant

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

    Dr Philippe M Campeau

  69. 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

  70. 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

  71. 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

  72. 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

  73. 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

  74. Disrupted minor intron splicing is prevalent in Mendelian disorders

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

    Dr Philippe M Campeau

  75. 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

  76. 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

  77. 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

  78. 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

  79. 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

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

    Article • Neuron, March 2020, Elsevier

    Dr Philippe M Campeau

  81. 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

  82. 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

  83. 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

  84. 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

  85. 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

  86. 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

  87. 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

  88. 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

  89. 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

  90. 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

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

    Article • Clinical and Experimental Dermatology, September 2019, Wiley

    Dr Philippe M Campeau

  92. 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

  93. 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

  94. 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

  95. 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

  96. 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

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

    Article • Bone, August 2019, Elsevier

    Dr Philippe M Campeau

  98. 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

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

    Article • Bone Abstracts, July 2019, Bioscientifica

    Dr Philippe M Campeau

  100. 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

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

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

    Dr Philippe M Campeau

  102. 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

  103. 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

  104. 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

  105. 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

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

    Article • Bone, April 2019, Elsevier

    Dr Philippe M Campeau

  107. 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

  108. 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

  109. 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

  110. 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

  111. Genetics of the patella

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

    Dr Philippe M Campeau

  112. 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

  113. 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

  114. 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

  115. 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

  116. MYOD1 involvement in myopathy

    Article • European Journal of Neurology, November 2018, Wiley

    Dr Philippe M Campeau

  117. 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

  118. Hot water epilepsy and SYN1 variants

    Article • Epilepsia, November 2018, Wiley

    Dr Philippe M Campeau

  119. 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

  120. 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

  121. 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

  122. 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

  123. 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

  124. 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

  125. 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

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

    Article • Molecular Genetics and Metabolism, September 2018, Elsevier

    Dr Philippe M Campeau

  127. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

    Article • Clinical Genetics, August 2018, Wiley

    Dr Philippe M Campeau

  128. 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

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

    Article • Human Mutation, April 2018, Wiley

    Dr Philippe M Campeau

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

    Article • Annals of Neurology, April 2018, Wiley

    Dr Philippe M Campeau

  131. 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

  132. 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

  133. 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

  134. 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

  135. Neural Glycosylphosphatidylinositol-Anchored Proteins in Synaptic Specification

    Article • Trends in Cell Biology, December 2017, Elsevier

    Dr Philippe M Campeau

  136. 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

  137. 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

  138. 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

  139. 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

  140. Genomic approaches to diagnose rare bone disorders

    Article • Bone, September 2017, Elsevier

    Dr Philippe M Campeau

  141. 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

  142. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

    Article • Genetics, September 2017, Genetics Society of America

    Dr Philippe M Campeau

  143. 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

  144. A challenging case of hyperphosphatemic tumoral calcinosis

    Article • Bone Abstracts, July 2017, Bioscientifica

    Dr Philippe M Campeau

  145. 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

  146. Retrospective Analysis of Congenital Scoliosis

    Article • Spine, July 2017, Wolters Kluwer Health

    Dr Philippe M Campeau

  147. 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

  148. Yunis-Varón syndrome caused by biallelic VAC14 mutations

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

    Dr Philippe M Campeau

  149. 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

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

    Article • Nature Communications, April 2017, Nature

    Dr Philippe M Campeau

  151. 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

  152. 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

  153. 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

  154. 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

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

    Article • Clinical Genetics, February 2017, Wiley

    Dr Philippe M Campeau

  156. Genetic Testing in a Cohort of Complex Esophageal Atresia

    Article • Molecular Syndromology, January 2017, Karger Publishers

    Dr Philippe M Campeau

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

    Article • Molecular Syndromology, January 2017, Karger Publishers

    Dr Philippe M Campeau

  158. 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

  159. 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

  160. 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

  161. FHF1 (FGF12) epileptic encephalopathy: Table

    Article • Neurology Genetics, October 2016, Wolters Kluwer Health

    Dr Philippe M Campeau

  162. 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

  163. 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

  164. TBC1D24genotype–phenotype correlation

    Article • Neurology, June 2016, Wolters Kluwer Health

    Dr Philippe M Campeau

  165. LMX1B and the Nail-Patella Syndrome

    Article • June 2016, Oxford University Press (OUP)

    Dr Philippe M Campeau

  166. Epilepsy in KCNH1-related syndromes

    Article • Epileptic Disorders, June 2016, John Libbey Eurotext

    Dr Philippe M Campeau

  167. 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

  168. Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests

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

    Dr Philippe M Campeau

  169. 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

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

    Article • Nature Genetics, April 2015, Nature

    Dr Philippe M Campeau

  171. 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

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

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

    Dr Philippe M Campeau

  173. FBN1contributing to familial congenital diaphragmatic hernia

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

    Dr Philippe M Campeau

  174. 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

  175. 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

  176. Urea Cycle

    Article • October 2014, Oxford University Press (OUP)

    Dr Philippe M Campeau

  177. A longitudinal study of urea cycle disorders

    Article • Molecular Genetics and Metabolism, September 2014, Elsevier

    Dr Philippe M Campeau

  178. 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

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

    Article • New England Journal of Medicine, August 2014, New England Journal of Medicine (NEJM/MMS)

    Dr Philippe M Campeau

  180. 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

  181. 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

  182. 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

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

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

    Dr Philippe M Campeau

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

    Article • The Lancet Neurology, January 2014, Elsevier

    Dr Philippe M Campeau

  185. 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

  186. 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

  187. 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

  188. 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

  189. 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

  190. 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

  191. A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

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

    Dr Philippe M Campeau

  192. 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

  193. 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

  194. WNT1Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

    Article • New England Journal of Medicine, May 2013, New England Journal of Medicine (NEJM/MMS)

    Dr Philippe M Campeau

  195. 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

  196. Early childhood presentation of Czech dysplasia

    Article • Clinical Dysmorphology, April 2013, Wolters Kluwer Health

    Dr Philippe M Campeau

  197. 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

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

    Article • Human Mutation, February 2013, Wiley

    Dr Philippe M Campeau

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

    Article • Human Mutation, November 2012, Wiley

    Dr Philippe M Campeau

  200. 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

  201. 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

  202. 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

  203. 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

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

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

    Dr Philippe M Campeau

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

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

    Dr Philippe M Campeau

  206. Requirement of argininosuccinate lyase for systemic nitric oxide production

    Article • Nature Medicine, November 2011, Nature

    Dr Philippe M Campeau

  207. 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

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

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

    Dr Philippe M Campeau

  209. 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

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

    Article • Molecular Genetics and Metabolism, July 2009, Elsevier

    Dr Philippe M Campeau

  211. 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

  212. Clinical Heterogeneity in Ethylmalonic Encephalopathy

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

    Dr Philippe M Campeau

  213. 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

  214. 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

  215. 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

  216. 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

  217. 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

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

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

    Dr Philippe M Campeau

  219. Neurotransmitter diseases and related conditions

    Article • Molecular Genetics and Metabolism, November 2007, Elsevier

    Dr Philippe M Campeau

  220. Transfection of large plasmids in primary human myoblasts

    Article • Gene Therapy, September 2001, Nature

    Dr Philippe M Campeau

  221. 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