Céline HUBER | Institut Imagine

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Céline HUBER

Bases physiopathologiques des dysplasies squelettiques

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01 42 75 42 99

celine.huber@inserm.fr

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Publications scientifiques

Publications

2026

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diver..., Elsevier BV
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
2024

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

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

Weill-Marchesani syndrome: natural history and genotype-phenotype correlation..., J Med Genet
2022

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

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

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

mutations are responsible for autosomal recessive osteogenesis imperfecta., J Med Genet
2015

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ..., Am J Hum 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
2009

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

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Présentation

À propos

Publications scientifiques

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

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

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

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

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

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

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

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

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

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

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

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

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

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