Publications by authors named "Celine Huber"

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Celine Huber

J Clin Invest· November 2025

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Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple dislocations.
Miriam Villegas Villarroel, Céline Huber, Geneviève Baujat, Adeline Bonnard, Corinne Collet

J Bone Miner Res· March 2025

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Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
Johanne Dubail, Sophie Rondeau, Caroline Michot, Geneviève Baujat, Yline Capri, Céline Huber

J Bone Miner Res· April 2024

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Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Pauline Marzin, Sophie Rondeau, Jean-Luc Alessandri, Klaus Dieterich, Carine le Goff, Céline Huber

J Med Genet· January 2024

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Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
Marion Aubert-Mucca, Céline Huber, Genevieve Baujat, Caroline Michot, Mohammed Zarhrate

J Med Genet· April 2023

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Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber

J Med Genet· April 2023

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Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Alessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, Chiara Paganini, Catherine Vanhulle, Céline Huber

Brain· October 2022

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Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
Madeline Louise Reilly, Noor Ul Ain, Mari Muurinen, Alice Tata, Céline Huber

J Bone Miner Res· September 2022

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Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature.
Shuaa Basalom, Mélissa Fiscaletti, Valancy Miranda, Céline Huber, Guillaume Couture

Bone Rep· December 2021

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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
Alice Costantini, Jessica J Alm, Francesca Tonelli, Helena Valta, Céline Huber

J Bone Miner Res· February 2021

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Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Walid Haouari, Johanne Dubail, Samra Lounis-Ouaras, Pierre Prada, Rizk Bennani, Céline Huber

J Inherit Metab Dis· November 2020

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Adrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Celine Huber

Am J Hum Genet· November 2020

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Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
Johanne Dubail, Perrine Brunelle, Geneviève Baujat, Céline Huber, Mathilde Doyard

J Bone Miner Res· August 2020

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Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Thuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, Céline Huber, Chelsea Kois

Am J Hum Genet· June 2020

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A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.
Emilien Faudi, Elise Brischoux-Boucher, Céline Huber, Thibaud Dabudyk, Marion Lenoir

Eur J Med Genet· April 2020

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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Céline Huber

Bone· April 2020

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Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.
Yin-Huai Chen, Giedre Grigelioniene, Phillip T Newton, Jacob Gullander, Maria Elfving, Celine Huber

J Exp Med· March 2020

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Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.
Pauline Marzin, Geneviève Baujat, Déborah Gensburger, Céline Huber, Christine Bole

Eur J Med Genet· February 2020

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Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
Benjamin Dudoignon, Celine Huber, Caroline Michot, Federico Di Rocco, Muriel Girard

Am J Med Genet A· January 2020

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Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification.
Chiara Paganini, Luca Monti, Rossella Costantini, Roberta Besio, Silvia Lecci, Céline Huber

Matrix Biol· August 2019

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Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
Marie Alice Dupont, Camille Humbert, Céline Huber, Quentin Siour, Ida Chiara Guerrera

Hum Mol Genet· August 2019

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Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
Varoona Bizaoui, Céline Huber, Eva Kohaut, Joelle Roume, Maryse Bonnière

Am J Med Genet A· April 2019

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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Lindsay C Burrage, John J Reynolds, Nissan Vida Baratang, Jennifer B Phillips, Jeremy Wegner, Celine Huber

Am J Hum Genet· March 2019

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Serum bikunin is a biomarker of linkeropathies.
Arnaud Bruneel, Johanne Dubail, Charles Roseau, Pierre Prada, Walid Haouari, Céline Huber

Clin Chim Acta· October 2018

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz

Nat Commun· August 2018

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