Valérie CORMIER-DAIRE | Institut Imagine

Presentation

Valérie CORMIER-DAIRE

Pathophysiological basis of skeletal dysplasias

Contact :

01 44 49 51 63

valerie.cormier-daire@inserm.fr

About

Scientific Publications

Publications

2026

Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome r..., Springer Science and Business Media LLC
2026

Myhre Syndrome: New Horizons in Clinical Care, Research and the Pursuit of Th..., Am J Med Genet C Semin Med Genet
2026

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Rese..., Am J Med Genet C Semin Med Genet
2026

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diver..., Elsevier BV
2026

Multimodal imaging reveals resilient memory networks in carriers of pathogeni..., Springer Science and Business Media LLC
2026

Identification of an episignature for CHD3-related Snijders Blok-Campeau synd..., Springer Science and Business Media LLC
2026

Homozygous Loss-of-Function Variant in SLC20A1 Coding for Ubiquitous Phosphat..., Clin Genet
2026

COBT: a gene-based rare variant burden test for case-only study designs using..., Genome Med
2026

A rare coexistence: Ollier disease and primary hyperparathyroidism-mere coinc..., JBMR Plus
2025

Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorp..., Am J Med Genet A
2025

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological ..., Orphanet J Rare Dis
2025

Physiology of dentinogenesis and pathophysiology of dentinogenesis imperfecta..., Acta Biomater
2025

Pregnancy-Related Complications in Osteogenesis Imperfecta., Obstet Gynecol
2025

Hospitalization for child physical abuse before hospitalization for osteogene..., Child Abuse Negl
2025

Enhancing rare disease detection with deep phenotyping from EHR narratives: e..., Int J Med Inform
2025

Real-World Safety and Effectiveness of Vosoritide in Children with Achondropl..., Horm Res Paediatr
2025

SLC10A7 regulates O-GalNAc glycosylation and Ca homeostasis in the secretory ..., Cell Mol Life Sci
2024

Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple ..., J Bone Miner Res
2024

Osteogenesis Imperfecta: A study of the patient journey in 13 European countr..., Orphanet J Rare Dis
2024

Clinical spectrum of rare bone fragility disorders and response to bisphospho..., Eur J Hum Genet
2024

Identification of kinesin family member (KIF22) homozygous variants in spondy..., J Bone Miner Res
2024

Next generation phenotyping for diagnosis and phenotype-genotype correlations..., Sci Rep
2024

Weill-Marchesani syndrome: natural history and genotype-phenotype correlation..., J Med Genet
2023

Oro-dental phenotyping and report of three families with RELT-associated amel..., Eur J Hum Genet
2023

TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall St..., Annu Rev Genomics Hum Genet
2023

Determinants of dental care use in patients with rare diseases: a qualitative..., BMC Oral Health
2023

Bone allografting: an original method for biological osteosynthesis and bone ..., Int Orthop
2023

Unequal Impact of and Variants on Dentinogenesis Imperfecta., J Dent Res
2023

Clinical heterogeneity of NADSYN1-associated VCRL syndrome., Clin Genet
2023

An automatic facial landmarking for children with rare diseases., Am J Med Genet A
2023

An intermediate phenotype in IDH related enchondromatosis spectrum., Eur J Med Genet
2022

Consideration of oral health in rare disease expertise centres: a retrospecti..., Orphanet J Rare Dis
2022

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals., J Med Genet
2022

Natural history of Myhre syndrome., Orphanet J Rare Dis
2022

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders..., J Bone Miner Res
2022

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelina..., Brain
2022

SATB2-associated syndrome: characterization of skeletal features and of bone ..., Orphanet J Rare Dis
2022

Osteogenesis Imperfecta: characterization of fractures during pregnancy and p..., Orphanet J Rare Dis
2021

Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia., Int J Mol Sci
2021

Interplay between Histone and DNA Methylation Seen through Comparative Methyl..., Int J Mol Sci
2020

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype co..., Genet Med
2020

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta..., Am J Hum Genet
2020

Phenotypic spectrum and transcriptomic profile associated with germline varia..., Genet Med
2020

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe..., J Bone Miner Res
2020

New perspectives on the treatment of skeletal dysplasia., Ther Adv Endocrinol Metab
2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Corre..., Am J Hum Genet
2020

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann ..., J Exp Med
2020

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphal..., Bone
2019

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa..., Brain
2019

Chronic mucocutaneous candidiasis and connective tissue disorder in humans wi..., Sci Immunol
2019

Human IFT52 mutations uncover a novel role for the protein in microtubule dyn..., Hum Mol Genet
2018

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency., FASEB J
2018

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med..., Nat Commun
2018

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso..., Eur J Hum Genet
2018

Whole-exome sequence analysis highlights the role of unmasked recessive mutat..., Eur J Hum Genet
2018

mutations are responsible for autosomal recessive osteogenesis imperfecta., J Med Genet
2016

Mosaicism in ATP1A3-related disorders: not just a theoretical risk., Neurogenetics
2015

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p..., J Med Genet
2015

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ..., Am J Hum Genet
2014

The impairment of MAGMAS function in human is responsible for a severe skelet..., PLoS Genet
2014

Myhre syndrome., Clin Genet
2014

XYLT1 mutations in Desbuquois dysplasia type 2., Am J Hum Genet
2013

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asp..., Am J Hum Genet
2012

TCTN3 mutations cause Mohr-Majewski syndrome., Am J Hum Genet
2012

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations., Am J Hum Genet
2011

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syn..., Nat Genet
2011

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes., Nat Genet
2009

Identification of CANT1 mutations in Desbuquois dysplasia., Am J Hum Genet

Presentation

About

Scientific Publications

Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome r..., Springer Science and Business Media LLC

Myhre Syndrome: New Horizons in Clinical Care, Research and the Pursuit of Th..., Am J Med Genet C Semin Med Genet

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Rese..., Am J Med Genet C Semin Med Genet

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diver..., Elsevier BV

Multimodal imaging reveals resilient memory networks in carriers of pathogeni..., Springer Science and Business Media LLC

Identification of an episignature for CHD3-related Snijders Blok-Campeau synd..., Springer Science and Business Media LLC

Homozygous Loss-of-Function Variant in SLC20A1 Coding for Ubiquitous Phosphat..., Clin Genet

COBT: a gene-based rare variant burden test for case-only study designs using..., Genome Med

A rare coexistence: Ollier disease and primary hyperparathyroidism-mere coinc..., JBMR Plus

Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorp..., Am J Med Genet A

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological ..., Orphanet J Rare Dis

Physiology of dentinogenesis and pathophysiology of dentinogenesis imperfecta..., Acta Biomater

Pregnancy-Related Complications in Osteogenesis Imperfecta., Obstet Gynecol

Hospitalization for child physical abuse before hospitalization for osteogene..., Child Abuse Negl

Enhancing rare disease detection with deep phenotyping from EHR narratives: e..., Int J Med Inform

Real-World Safety and Effectiveness of Vosoritide in Children with Achondropl..., Horm Res Paediatr

SLC10A7 regulates O-GalNAc glycosylation and Ca homeostasis in the secretory ..., Cell Mol Life Sci

Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple ..., J Bone Miner Res

Osteogenesis Imperfecta: A study of the patient journey in 13 European countr..., Orphanet J Rare Dis

Clinical spectrum of rare bone fragility disorders and response to bisphospho..., Eur J Hum Genet

Identification of kinesin family member (KIF22) homozygous variants in spondy..., J Bone Miner Res

Next generation phenotyping for diagnosis and phenotype-genotype correlations..., Sci Rep

Weill-Marchesani syndrome: natural history and genotype-phenotype correlation..., J Med Genet

Oro-dental phenotyping and report of three families with RELT-associated amel..., Eur J Hum Genet

TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall St..., Annu Rev Genomics Hum Genet

Determinants of dental care use in patients with rare diseases: a qualitative..., BMC Oral Health

Bone allografting: an original method for biological osteosynthesis and bone ..., Int Orthop

Unequal Impact of and Variants on Dentinogenesis Imperfecta., J Dent Res

Clinical heterogeneity of NADSYN1-associated VCRL syndrome., Clin Genet

An automatic facial landmarking for children with rare diseases., Am J Med Genet A

An intermediate phenotype in IDH related enchondromatosis spectrum., Eur J Med Genet

Consideration of oral health in rare disease expertise centres: a retrospecti..., Orphanet J Rare Dis

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals., J Med Genet

Natural history of Myhre syndrome., Orphanet J Rare Dis

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders..., J Bone Miner Res

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelina..., Brain

SATB2-associated syndrome: characterization of skeletal features and of bone ..., Orphanet J Rare Dis

Osteogenesis Imperfecta: characterization of fractures during pregnancy and p..., Orphanet J Rare Dis

Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia., Int J Mol Sci

Interplay between Histone and DNA Methylation Seen through Comparative Methyl..., Int J Mol Sci

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype co..., Genet Med

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta..., Am J Hum Genet

Phenotypic spectrum and transcriptomic profile associated with germline varia..., Genet Med

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe..., J Bone Miner Res

New perspectives on the treatment of skeletal dysplasia., Ther Adv Endocrinol Metab

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Corre..., Am J Hum Genet

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann ..., J Exp Med

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphal..., Bone

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa..., Brain

Chronic mucocutaneous candidiasis and connective tissue disorder in humans wi..., Sci Immunol

Human IFT52 mutations uncover a novel role for the protein in microtubule dyn..., Hum Mol Genet

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency., FASEB J

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med..., Nat Commun

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso..., Eur J Hum Genet

Whole-exome sequence analysis highlights the role of unmasked recessive mutat..., Eur J Hum Genet

mutations are responsible for autosomal recessive osteogenesis imperfecta., J Med Genet

Mosaicism in ATP1A3-related disorders: not just a theoretical risk., Neurogenetics

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p..., J Med Genet

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ..., Am J Hum Genet

The impairment of MAGMAS function in human is responsible for a severe skelet..., PLoS Genet

Myhre syndrome., Clin Genet

XYLT1 mutations in Desbuquois dysplasia type 2., Am J Hum Genet

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asp..., Am J Hum Genet

TCTN3 mutations cause Mohr-Majewski syndrome., Am J Hum Genet

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations., Am J Hum Genet

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syn..., Nat Genet

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes., Nat Genet

Identification of CANT1 mutations in Desbuquois dysplasia., Am J Hum Genet