Philippe M. Campeau

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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Michael F. Wangler, J. Postlethwait, M. Westerfield, 2017, Genetics.

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

Jonathan E. Dickerson, Ariana E. Giuliano, J. Wiszniewska, 2014, The Lancet Neurology.

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

E. Shoubridge, C. Rankin, P. Pavlidis, 2020, American journal of human genetics.

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

Philippe M. Campeau, K. Girisha, A. Shukla, 2022, Human Genetics.

Ethanolamine-phosphate on the second mannose is the preferential bridge for some of the brain GPI-anchored proteins

Philippe M. Campeau, Y. Murakami, Taroh Kinoshita, 2021 .

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

Denise L. Perry, J. Rosenfeld, R. Taft, 2018, American journal of human genetics.

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

C. Bole-Feysot, P. Nitschké, J. Thevenon, 2018, European Journal of Human Genetics.

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

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

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency[S]

R. Hegele, Philippe M. Campeau, T. Leff, 2012, Journal of Lipid Research.

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

T. Strom, M. Lek, B. Lenhard, 2018, Brain : a journal of neurology.

Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis

Lijia Huang, D. Lacombe, F. Bernier, 2013, Human mutation.

Mesenchymal Stromal Cells Ameliorate Experimental Autoimmune Encephalomyelitis by Inhibiting CD4 Th17 T Cells in a CC Chemokine Ligand 2-Dependent Manner1

Philippe M. Campeau, M. Basik, J. Galipeau, 2009, The Journal of Immunology.

Adult presentation of X‐linked Conradi‐Hünermann‐Happle syndrome

R. Gibbs, J. Posey, Philippe M. Campeau, 2015, American journal of medical genetics. Part A.

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Frédérick A. Mallette, Dagmar Glatz, V. Aggarwal, 2020, Genetics in Medicine.

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

D. Chuang, B. Tu, Philippe M. Campeau, 2013, Proceedings of the National Academy of Sciences.

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

Philippe M. Campeau, L. Burrage, Brendan H. Lee, 2014, Human molecular genetics.

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

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

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

I. Thiffault, Xiang-Jiao Yang, B. Solomon, 2020, Science Advances.

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

R. Gibbs, Philippe M. Campeau, James T. Lu, 2017, The Journal of clinical investigation.

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

K. McBride, Philippe M. Campeau, J. Goss, 2010, Molecular genetics and metabolism.

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

Michael D. Wilson, M. Shago, F. Boisvert, 2022, JCI insight.

FHF1 (FGF12) epileptic encephalopathy

J. Rosenfeld, Yaping Yang, F. Xia, 2016, Neurology: Genetics.

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

S. Antonarakis, Xiang-Jiao Yang, E. Beaver, 2020, American journal of human genetics.

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

S. Plon, J. G. Teodoro, Philippe M. Campeau, 2019, American journal of human genetics.

Disrupted minor intron splicing is prevalent in Mendelian disorders

Philippe M. Campeau, R. Kanadia, Anouk M. Olthof, 2020, Molecular genetics & genomic medicine.

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

E. Haddad, V. Désilets, Philippe M. Campeau, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

John J. Mitchell, N. Butcher, R. Sparkes, 2021, Trials.

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

R. Ratan, C. Robertson, Philippe M. Campeau, 2018, Molecular genetics and metabolism.

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

Philippe M. Campeau, J. Galipeau, M. Rafei, 2009, Molecular therapy : the journal of the American Society of Gene Therapy.

FBN1 contributing to familial congenital diaphragmatic hernia

Alexander Hanbo Li, J. Lupski, R. Gibbs, 2015, American journal of medical genetics. Part A.

Genetic Testing in a Cohort of Complex Esophageal Atresia

E. Lemyre, Philippe M. Campeau, Z. Kibar, 2017, Molecular Syndromology.

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

D. Gaudet, D. Brisson, C. Laprise, 2021, Journal of Medical Genetics.

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

D. Grozeva, Hiromi Hirata, R. Guerreiro, 2022, Movement disorders : official journal of the Movement Disorder Society.

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

P. Gros, Philippe M. Campeau, T. Brunet, 2020, JCI insight.

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

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

Fibronectin isoforms in skeletal development and associated disorders.

Philippe M. Campeau, D. Reinhardt, N. E. Dinesh, 2022, American journal of physiology. Cell physiology.

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

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

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

J. Rosenfeld, Yaping Yang, J. Beuten, 2016, American journal of human genetics.

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

Philippe M. Campeau, Staci Kallish, A. Raper, 2021, Bone Reports.

TBC1D24-Related Disorders

R. Hennekam, S. Sisodiya, Philippe M. Campeau, 2015 .

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

Philippe M. Campeau, Y. Murakami, Taroh Kinoshita, 2022, EMBO reports.

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

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

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

C. Fallet-Bianco, E. Lemyre, D. Chitayat, 2017, Genetics in Medicine.

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

Philippe M. Campeau, J. Rousseau, C. Magnani, 2020, bioRxiv.

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

John J. Mitchell, D. Iannuzzi, B. Maranda, 2020, Orphanet Journal of Rare Diseases.

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

A. V. Vulto-van Silfhout, E. Haan, R. Gibbs, 2013, American journal of human genetics.

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

Philippe M. Campeau, N. Alos, M. Miron, 2021, BMC Pediatrics.

Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations

F. Glorieux, Philippe M. Campeau, F. Rauch, 2017, Molecular Syndromology.

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

Philippe M. Campeau, J. Rousseau, L. Kratz, 2020, Bone.

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

J. Rosenfeld, F. Alkuraya, A. Afenjar, 2019, American journal of human genetics.

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

Philippe M. Campeau, T. Nguyen, N. Baratang, 2018, Clinical genetics.

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

Philippe M. Campeau, J. Galipeau, M. Rafei, 2009, Blood.

DOORS syndrome: Phenotype, genotype and comparison with Coffin‐Siris syndrome

R. Hennekam, Philippe M. Campeau, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

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

J. Gécz, S. Robertson, R. Stevenson, 2022, Human mutation.

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

N. Brunetti‐Pierri, D. Harrison, N. Bryan, 2012, American journal of human genetics.

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

J. Rosenfeld, B. Graham, Y. Kwon, 2020, American journal of human genetics.

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

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Genetics of the patella

Philippe M. Campeau, M. Samuels, 2019, European Journal of Human Genetics.

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

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

Genotype-Phenotype Correlation: Promiscuity in the Era of Next-Generation Sequencing

Philippe M. Campeau, James T. Lu, Brendan H Lee, 2014 .

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

Undiagnosed Diseases Network, E. Eklund, Manuela Pendziwiat, 2020 .

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

E. Zackai, H. Hakonarson, H. Brunner, 2022, HGG advances.

A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant

Philippe M. Campeau, L. Ospina, Eileen Javidi, 2022, Case Reports in Ophthalmology.

Genotype-Phenotype Correlation

Philippe M. Campeau, James T. Lu, Brendan H Lee, 2014 .

Selective Inhibition of CCR2 Expressing Lymphomyeloid Cells in Experimental Autoimmune Encephalomyelitis by a GM-CSF-MCP1 Fusokine1

Philippe M. Campeau, J. Galipeau, M. Rafei, 2009, The Journal of Immunology.

Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses

E. Lemyre, S. Parent, Philippe M. Campeau, 2017, Spine.

PIGF deficiency causes a phenotype overlapping with DOORS syndrome

S. Sisodiya, Philippe M. Campeau, F. Stewart, 2021, Human Genetics.

Hot water epilepsy and SYN1 variants

A. Vignoli, Philippe M. Campeau, N. Baratang, 2018, Epilepsia.

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

G. Mortier, J. Campbell, M. Sessa, 2021, Nature Reviews Endocrinology.

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

J. Krischer, F. Glorieux, P. Byers, 2015, Clinical genetics.

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

Philippe M. Campeau, M. Stolina, D. Wenkert, 2020, Bone.

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

O. Mäkitie, C. Kim, K. Wierenga, 2019, Bone.

A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

W. Chung, R. Gibbs, A. Berghuis, 2013, American journal of human genetics.

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

N. Brunetti‐Pierri, Philippe M. Campeau, C. Baldo, 2018, Human Genetics.

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

D. Baralle, C. Depienne, N. Matsumoto, 2019, American journal of human genetics.

Hereditary breast cancer: new genetic developments, new therapeutic avenues

W. Foulkes, Philippe M. Campeau, M. Tischkowitz, 2008, Human Genetics.

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

U. Löbel, Philippe M. Campeau, D. Lessel, 2021, Human Genetics.

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

Rebecca C. Spillmann, J. Rosenfeld, R. Pfundt, 2019, American journal of human genetics.

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

Philippe M Campeau, Tiziana Granata, Ronnie Wright, 2016, American journal of human genetics.

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

Joshua L. Deignan, T. Bourgeron, R. Delorme, 2019, American journal of human genetics.

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

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

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

J. Lupski, R. Gibbs, E. Boerwinkle, 2020, JBMR plus.

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

James T Lu, Richard A Gibbs, Philippe M Campeau, 2017, Cold Spring Harbor molecular case studies.

Early childhood presentation of Czech dysplasia

R. Gibbs, Philippe M. Campeau, C. Bacino, 2013, Clinical dysmorphology.

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

L. Richards, A. Barkovich, A. Afenjar, 2018, Neuron.

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

Donna M. Martin, S. Lalani, Philippe M. Campeau, 2018, Proceedings of the National Academy of Sciences.

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

Meghan C Towne, Lovelace J. Luquette, C. Brownstein, 2013, European journal of medical genetics.

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

J. Gécz, S. Robertson, R. Stevenson, 2021, HGG advances.

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

Lijia Huang, K. Boycott, D. Bulman, 2017, Human molecular genetics.

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

Alyssa A. Tran, J. Rosenfeld, B. D. de Vries, 2017, Human mutation.

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

R. Pfundt, B. D. de Vries, M. Bamshad, 2021, medRxiv.

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

Andrew R. Bassett, F. Benfenati, P. Oliver, 2018, Human molecular genetics.

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

S. Szelinger, D. Craig, V. Narayanan, 2017, F1000Research.

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

J. Gécz, S. Sisodiya, E. Lemyre, 2018, Genetics in Medicine.

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

N. Boddaert, Philippe M. Campeau, D. Rabier, 2009, Molecular genetics and metabolism.

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

Philippe M. Campeau, T. Kinoshita, Y. Murakami, 2020, bioRxiv.

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

L. Vissers, N. Brown, B. D. de Vries, 2021, medRxiv.

miRNA-34c regulates Notch signaling during bone development.

B. Dawson, Jianning Tao, Philippe M. Campeau, 2012, Human molecular genetics.

Variable expressivity in a family with an aggrecanopathy

Philippe M. Campeau, T. Pauyo, S. Chergui, 2021, Molecular genetics & genomic medicine.

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

J. Rosenfeld, E. Roeder, F. Xia, 2017, American journal of human genetics.

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

Philippe M. Campeau, Karen Doggett, J. Heath, 2021, Nucleic acids research.

PIGF deficiency causes a phenotype overlapping with DOORS syndrome

S. Sisodiya, Philippe M. Campeau, F. Stewart, 2021, Human genetics.

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

P. Klivényi, L. Vécsei, Philippe M. Campeau, 2020, Frontiers in Neurology.

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

N. Brunetti‐Pierri, Philippe M. Campeau, C. Baldo, 2018, Human Genetics.

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

Hanxin Lin, Bekim Sadikovic, Kym M Boycott, 2018, American journal of human genetics.

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

M. Shaw, N. de Leeuw, J. Gécz, 2020, American journal of human genetics.

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

S. Cheung, R. Hennekam, C. Schwartz, 2018, Nature Communications.

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

Gabriele Gillessen-Kaesbach, Maria Kousi, Alessandro Bruselles, 2015, American journal of human genetics.

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

L. Vissers, N. Brown, B. D. de Vries, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

T. Pandita, I. Thiffault, G. B. Schaefer, 2019, The Journal of clinical investigation.

Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis.

B. Dawson, N. Bryan, Philippe M. Campeau, 2014, American journal of physiology. Gastrointestinal and liver physiology.

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

R. Gibbs, S. Robertson, M. Bainbridge, 2012, American journal of human genetics.

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

F. Kortüm, K. Gripp, F. Santos-Simarro, 2019, American journal of human genetics.

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

F. Kortüm, B. Dallapiccola, V. Caputo, 2015, Nature Genetics.

Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3

Anne, Fassi, Joshua L. Deignan, 2019 .

Recessive mutations in VPS13D cause childhood onset movement disorders

H. Prokisch, I. Glass, D. Krainc, 2018, Annals of neurology.

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

Philippe M. Campeau, F. Rauch, N. Alos, 2020, European journal of medical genetics.

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

M. Shaw, N. de Leeuw, J. Gécz, 2021, American journal of human genetics.

B. Dawson, R. Gibbs, S. Robertson, 2012, Human mutation.

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

J. Rosenfeld, S. Ellard, F. Alkuraya, 2019, American journal of human genetics.

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

L. Shaffer, Philippe M. Campeau, V. D. Der Kaloustian, 2008, American journal of medical genetics. Part A.

Clinical Report Prenatal Diagnosis of Monosomy 1p36: A Focus on Brain Abnormalities and a Review of the Literature

L. Shaffer, Philippe M. Campeau, L. Cartier, 2008 .

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

R. Gibbs, Mahim Jain, Philippe M. Campeau, 2014, Molecular genetics and metabolism reports.

Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

R. Gibbs, R. Hennekam, A. Dionne‐Laporte, 2016, Journal of Human Genetics.

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

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Yunis-Varón syndrome caused by biallelic VAC14 mutations

S. Ferdinandusse, K. Boycott, K. Kernohan, 2017, European Journal of Human Genetics.

Clinical Heterogeneity in Ethylmalonic Encephalopathy

Philippe M. Campeau, J. Clarke, B. Lemieux, 2009, Journal of child neurology.

Genomic approaches to diagnose rare bone disorders.

Philippe M. Campeau, Maria Vittoria Camurri, F. Falardeau, 2017, Bone.

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

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.

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

R. Gibbs, Philippe M. Campeau, James T. Lu, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation

B. Dawson, R. Gibbs, M. Bainbridge, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

Philippe M. Campeau, J. Michaud, G. Mitchell, 2019, European Journal of Human Genetics.

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

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

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

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

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

Colin A. Johnson, J. Rosenfeld, A. Bateman, 2017, American journal of human genetics.

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

B. Dawson, R. Gibbs, N. Brunetti‐Pierri, 2013, Osteoporosis International.

Genetics of the patella

Philippe M. Campeau, M. Samuels, 2019, European Journal of Human Genetics.

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

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

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

V. Sutton, M. Tartaglia, R. Pauli, 2017, American journal of human genetics.

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

Rui Chen, Philippe M Campeau, B. Dawson, 2017, Nature Communications.

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

S. Duan, Philippe M. Campeau, G. Roodman, 2020, Bone.

Management of West Syndrome in a Patient With Methylmalonic Aciduria

N. Boddaert, Philippe M. Campeau, O. Dulac, 2010, Journal of Child Neurology.

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

R. Gibbs, O. Mäkitie, Philippe M. Campeau, 2013, The New England journal of medicine.

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

R. Gibbs, V. Sutton, Philippe M. Campeau, 2017, Molecular genetics and metabolism reports.

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

Philippe M. Campeau, N. Graf, A. Ronan, 2017, European journal of medical genetics.

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

R. Pfundt, Philippe M. Campeau, B. Isidor, 2022, International journal of molecular sciences.

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

S. Antonarakis, S. Ellard, R. Truty, 2021, Genetics in Medicine.

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

Golder N Wilson, J. Rosenfeld, R. Pfundt, 2022, Molecular Psychiatry.

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests

F. Sasarman, Philippe M. Campeau, G. Mitchell, 2016, Journal of Inherited Metabolic Disease.

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

R. Gibbs, Philippe M. Campeau, James T. Lu, 2012, Human molecular genetics.

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

J. Rosenfeld, P. Stankiewicz, R. Stevenson, 2021, American journal of human genetics.

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

Philippe M. Campeau, C. Smith-Hicks, T. Nguyen, 2018, Human mutation.

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

Philippe M. Campeau, T. Kinoshita, S. Edvardson, 2016, Journal of Medical Genetics.

An all-encompassing variant classification system proposed

Philippe M. Campeau, 2021, European Journal of Human Genetics.

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations

K., Lin, H., 2020, European Journal of Human Genetics.

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

S. Ellard, C. Shaw-Smith, Xiang-Jiao Yang, 2020, HGG advances.

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

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Requirement of argininosuccinate lyase for systemic nitric oxide production

Marshall Summar, William E O'Brien, Philippe M Campeau, 2011, Nature Medicine.

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

P. Hotez, Philippe M. Campeau, Mignon A. Keaton, 2014, The Journal of nutrition.

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

C. Ross, W. Wasserman, H. Waterham, 2019, American journal of human genetics.

Epilepsy in KCNH1-related syndromes.

I. Scheffer, V. Shashi, K. Schoch, 2016, Epileptic disorders : international epilepsy journal with videotape.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

R. Hennekam, S. Sisodiya, A. Dionne‐Laporte, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

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

Nicolas A. Dumont, K. Kandaswamy, T. Strom, 2019, Genetics in Medicine.

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

Kiely N. James, J. Rosenfeld, Alison M. Male, 2020, American journal of human genetics.

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

H. Bassan, Philippe M. Campeau, G. Zanni, 2021, Neurology: Genetics.

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

Rebecca C. Spillmann, Undiagnosed Diseases Network, E. Eklund, 2020, Journal of inherited metabolic disease.

KAT6B-Related Disorders

Philippe M. Campeau, Brendan H. Lee, 2013 .

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

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

J. Gécz, S. Sisodiya, E. Lemyre, 2018, Genetics in Medicine.

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

C. Bole-Feysot, P. Nitschké, A. Gezdirici, 2017, Clinical genetics.

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

P. Striano, M. Larsen, Philippe M. Campeau, 2021, Clinical genetics.

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

James T Lu, Philippe M Campeau, Philippe M. Campeau, 2014, The New England journal of medicine.

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

John J. Mitchell, Philippe M. Campeau, C. Scriver, 2008, Molecular genetics and metabolism.

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants

Philippe M. Campeau, T. Nguyen, N. Baratang, 2019, Molecular genetics & genomic medicine.

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

O. Mäkitie, R. Drouin, Philippe M. Campeau, 2021, Bone reports.

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

P. Striano, S. Efthymiou, R. Maroofian, 2021, Epilepsia.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

R. Hennekam, S. Sisodiya, A. Dionne‐Laporte, 2020, Genetics in Medicine.

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

D. Hoffman, P. Worley, C. Skinner, 2018, Human molecular genetics.

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

R. Gibbs, O. Mäkitie, Philippe M. Campeau, 2013 .

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

J. Buchan, D. Lacombe, M. Parker, 2023, American journal of human genetics.

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

Alyssa A. Tran, R. Gibbs, Mahim Jain, 2016, American journal of medical genetics. Part A.

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

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

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

J. Rosenfeld, Long Guo, J. Clayton-Smith, 2023, American journal of human genetics.

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

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2023, Nature Genetics.

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

Jonathan E. Dickerson, J. Wiszniewska, S. Cheung, 2013 .

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome

M. Passos-Bueno, M. Warman, Philippe M. Campeau, 2023, Journal of Medical Genetics.

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

H. Mefford, C. Skinner, R. Stevenson, 2023, medRxiv.

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

C. Fallet-Bianco, E. Lemyre, D. Chitayat, 2018, Genetics in Medicine.

Biallelic variants in GLE1 with survival beyond neonatal period

M. Larsen, Philippe M. Campeau, M. Balasubramanian, 2020, Clinical genetics.

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

John J. Mitchell, B. Burton, Philippe M. Campeau, 2022, Molecular Genetics and Metabolism.

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2010 .

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2013 .

Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials

Jonathan E. Dickerson, R. Collins, M. Nalls, 2011, The Lancet.

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

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

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

Alyssa A. Tran, J. Rosenfeld, B. D. de Vries, 2017, Human mutation.

Supplementary Webappendix

Jonathan E. Dickerson, L. Holmberg, R. Hennekam, 2022 .

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

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

Supplementary webappendix

Jonathan E. Dickerson, V. Beral, R. Hennekam, 2018 .

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

K. McBride, Philippe M. Campeau, J. Goss, 2010, Molecular genetics and metabolism.

Genomic approaches to diagnose rare bone disorders.

Philippe M. Campeau, Maria Vittoria Camurri, F. Falardeau, 2017, Bone.

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

V. Sutton, M. Tartaglia, R. Pauli, 2017, American journal of human genetics.

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

Nicolas A. Dumont, Philippe M. Campeau, J. Dort, 2023, Frontiers in cell and developmental biology.

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

Ankita Patel, S. Cheung, J. Belmont, 2013, Human Molecular Genetics.

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

A. Nordgren, B. Kerr, S. Banka, 2016, American journal of human genetics.

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

C. Skinner, C. Schwartz, G. Paré, 2018, American journal of human genetics.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

Mutations in Fibronectin Dysregulate Chondrogenesis in Skeletal Dysplasia

Philippe M. Campeau, J. Rousseau, N. E. Dinesh, 2024, bioRxiv.

The Quebec Dental Anomalies Registry: Identifying genes for rare disorders

M. Schmittbuhl, Philippe M. Campeau, F. Moldovan, 2023, PNAS nexus.