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List of works by Philippe M. Campeau

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

scientific article

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

scientific article published on 22 May 2017

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

scientific article published on 30 March 2018

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

scientific article published on 14 March 2019

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

scientific article published on 30 May 2014

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

scientific article published on 09 October 2019

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

scientific article published on 19 August 2020

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

scientific article published on 24 September 2018

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

scientific article

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

scientific article published on 02 December 2019

A recurrent PDGFRB mutation causes familial infantile myofibromatosis

scientific article published on 23 May 2013

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

scientific article published on 01 June 2020

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

scientific article published on 06 November 2019

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

scientific article

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

scientific article published on March 2017

Arginase overexpression in neurons and its effect on traumatic brain injury

scientific article published on 25 July 2018

Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis

scientific article

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

scientific article published in Nature Communications

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

scientific article published on 02 May 2019

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes

scientific article published in Nature Communications

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

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

scientific article published on 15 August 2019

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

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

scientific article published on 26 March 2020

Biallelic variants in GLE1 with survival beyond neonatal period

scientific article published on 20 September 2020

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

scientific article published on 16 May 2019

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests

scientific article published on 21 December 2015

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

scientific article

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

scientific article published on 28 August 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published in Nature Communications

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability

scientific article

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

scientific article

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

scientific article published on 13 October 2016

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

scientific article

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

scientific article published on 29 September 2020

Clinical heterogeneity in ethylmalonic encephalopathy

scientific article (publication date: August 2009)

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

scientific article published on 16 August 2018

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

scientific article published on 07 August 2020

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

scientific article published on 7 March 2017

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

scientific article published on 26 November 2016

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

scientific article published on 01 September 2019

Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

scientific article published on 15 September 2020

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

scientific article published on 01 August 2019

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

scientific article published on 01 September 2019

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

scientific article published on 01 March 2020

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

scientific article published on 02 September 2020

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome

scientific article

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

scientific article published on 14 August 2020

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

scientific journal article

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

scientific article published on 22 January 2020

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

scientific article

Disrupted minor intron splicing is prevalent in Mendelian disorders

scientific article published on 23 June 2020

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

scientific article published on 01 April 2021

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

scientific article published on 8 January 2018

Early childhood presentation of Czech dysplasia

scientific article published on April 2013

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of 7 new subjects and review of the literature

scientific article published on 26 June 2020

Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study

scientific article

Epilepsy in KCNH1-related syndromes

scientific article

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

scholarly article published in European Journal of Human Genetics

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

scientific article published on 27 February 2020

Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis

scientific article

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

scientific article published on 20 December 2018

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy

scientific article published on 07 January 2021

FBN1 contributing to familial congenital diaphragmatic hernia

scientific article published on 3 March 2015

FHF1 (FGF12) epileptic encephalopathy.

scientific article published on 28 October 2016

FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis.

scientific article published on 18 December 2017

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

scientific article published on 19 May 2020

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

scientific article published on 30 May 2019

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)

scientific article published on 22 January 2020

Genetic Testing in a Cohort of Complex Esophageal Atresia

scientific article published on 16 June 2017

Genetics of the patella

scientific article published on 21 January 2019

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

scientific article published in January 2018

Genomic approaches to diagnose rare bone disorders

scientific article published on 26 July 2016

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

scientific article published on 26 October 2017

Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing

scientific article published on 01 August 2014

Hereditary breast cancer: new genetic developments, new therapeutic avenues

scientific article published on 25 June 2008

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

scientific article published on 25 June 2017

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

scientific article published in November 2017

Hot water epilepsy and SYN1 variants

scientific article published on 01 November 2018

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

scientific article published on 12 September 2018

Identification of Novel Mutations ConfirmsPDE4Das a Major Gene Causing Acrodysostosis

article

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

scientific article published on 9 November 2012

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants

scientific article published on 24 May 2019

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

scientific article published on 26 March 2022

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

scientific article published on 20 October 2020

Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor Sp7)

scientific article published on 13 April 2020

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

scientific article published on 22 December 2016

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

scientific article published on 24 March 2009

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

scientific article published on 06 March 2017

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

scientific article published on 27 November 2019

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

article

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

scientific article published on 01 March 2020

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

scientific article published on 16 June 2013

MYOD1 involvement in myopathy

scientific article published on 01 December 2018

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

scientific article published on 09 July 2020

Management of West syndrome in a patient with methylmalonic aciduria

scientific article published on 21 August 2009

Mesenchymal stromal cells ameliorate experimental autoimmune encephalomyelitis by inhibiting CD4 Th17 T cells in a CC chemokine ligand 2-dependent manner

scientific article

Mesenchymal stromal cells engineered to express erythropoietin induce anti-erythropoietin antibodies and anemia in allorecipients

scientific article

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

scientific article

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

article

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

scientific article published on September 2017

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

scientific article published on 28 October 2013

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

scientific article

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

scientific article published on 25 April 2019

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

scientific article published on 11 July 2019

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

scientific article published in November 2017

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

scientific article

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

scientific article

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

scientific article published on 27 April 2015

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

scientific article published on 27 June 2019

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

scientific article published on 27 September 2018

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

scientific journal article

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

scientific article published on 30 September 2016

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

scientific article

Neurotransmitter diseases and related conditions

scientific article

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

scientific article published on February 27, 2013

Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria

scientific article

Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL

scientific article published on 18 September 2019

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

scientific article published on 03 December 2021

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"

scientific article published on 30 December 2018

Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.

scientific article

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

scientific article published on 06 November 2020

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

scientific article published on 28 February 2020

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation

scientific article

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

article

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

scientific article published on 12 January 2018

Recessive mutations in VPS13D cause childhood-onset movement disorders

scientific article published on 8 March 2018

Requirement of argininosuccinate lyase for systemic nitric oxide production.

scientific article

Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses.

scientific article published on 22 November 2016

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

scientific article published on 27 December 2019

Selective inhibition of CCR2 expressing lymphomyeloid cells in experimental autoimmune encephalomyelitis by a GM-CSF-MCP1 fusokine.

scientific article published in March 2009

Skeletal Dysplasias

scientific article published on 24 April 2015

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

scientific article

Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations

scientific article published on 7 September 2017

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

scientific article

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

scientific article

TBC1D24-Related Disorders

scientific article

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

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

scientific article published on 07 August 2019

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

scientific article published on 01 February 2020

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

scientific article

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

scientific article published on 01 February 2019

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

scientific article

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

scientific article published on 9 March 2017

The undernourished neonatal mouse metabolome reveals evidence of liver and biliary dysfunction, inflammation, and oxidative stress

scientific article published on 31 December 2013

Transfection of large plasmids in primary human myoblasts.

scientific article

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

scientific article published on 16 December 2020

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

scientific article published on 14 December 2021

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

scientific article published on May 2013

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

scientific article published on 8 August 2012

Yunis-Varón syndrome caused by biallelic VAC14 mutations

scientific article published on 21 June 2017

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

scientific article published on 25 April 2013

miRNA-34c regulates Notch signaling during bone development

scientific article

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