Geneviève BAUJAT | Institut Imagine

Presentation

Geneviève BAUJAT

Pathophysiological basis of skeletal dysplasias

Contact :

01 71 19 64 18

genevieve.baujat@aphp.fr

About

Scientific Publications

Publications

2025

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

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

TYRA-300, an FGFR3-selective inhibitor, promotes bone growth in two FGFR3-dri..., American Society for Clinical Investigation
2025

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, mot..., Am J Hum Genet
2025

Real-World Safety and Effectiveness of Vosoritide in Children with Achondropl..., Horm Res Paediatr
2024

Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple ..., J Bone Miner Res
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
2023

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using exte..., Frontiers Media SA
2023

Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mi..., American Society for Clinical Investigation
2023

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

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

Unequal Impact of and Variants on Dentinogenesis Imperfecta., J Dent Res
2022

Retrospective evaluation of clinical and molecular data of 148 cases of esoph..., Wiley
2022

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals., J Med Genet
2021

Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associ..., Rheumatology (Oxford)
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

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe..., J Bone Miner Res
2018

Anatomical and functional abnormalities on MRI in kabuki syndrome., Neuroimage Clin
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
2013

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

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia., J Med Genet

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Presentation

About

Scientific Publications

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

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

TYRA-300, an FGFR3-selective inhibitor, promotes bone growth in two FGFR3-dri..., American Society for Clinical Investigation

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, mot..., Am J Hum Genet

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

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

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

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using exte..., Frontiers Media SA

Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mi..., American Society for Clinical Investigation

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

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

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

Retrospective evaluation of clinical and molecular data of 148 cases of esoph..., Wiley

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

Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associ..., Rheumatology (Oxford)

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

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

Anatomical and functional abnormalities on MRI in kabuki syndrome., Neuroimage Clin

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

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

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia., J Med Genet