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authFullName_s : Valérie Cormier-Daire
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Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

Isabelle Perrault , Sophie Saunier , Sylvain Hanein , Emile Filhol , Albane A. Bizet et al.
First International Cilia in Development and Disease Scientific Conference, pp.O28
Conference papers inserm-00752958v1

Severe X-linked chondrodysplasia punctata in nine new female fetuses

Mathilde Lefebvre , Fabienne Dufernez , Ange-Line Bruel , Marie Gonzales , Bernard Aral et al.
Prenatal Diagnosis, 2015, 35 (7), pp.675-684. ⟨10.1002/pd.4591⟩
Journal articles istex hal-01376847v1
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Coordination du réseau des acteurs de la prise en charge d’une maladie osseuse constitutionnelle

Valérie Cormier-Daire
Revue du Rhumatisme monographies, 2019, 86, pp.69 - 73. ⟨10.1016/j.monrhu.2018.10.004⟩
Journal articles hal-03486545v1

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

Lam Son Nguyen , Taiane Schneider , Marlène Rio , Sébastien Moutton , Karine Siquier-Pernet et al.
European Journal of Human Genetics, 2016, 24 (3), pp.455-458. ⟨10.1038/ejhg.2015.140⟩
Journal articles hal-02142307v1
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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 et al.
Journal of Bone and Mineral Research, In press, ⟨10.1002/jbmr.4639⟩
Journal articles hal-03705297v1

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

Frederic Brioude , Irène Netchine , Françoise Praz , Marilyne Le Jule , Claire Calmel et al.
Human Mutation, 2015, 36 (9), pp.894--902. ⟨10.1002/humu.22824⟩
Journal articles istex hal-01195734v1

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Mouna Barat-Houari , Bruno Dumont , Aurelie J Fabre , Frédéric Tm Them , Yves Alembik et al.
European Journal of Human Genetics, 2016, 24 (7), pp.992-1000. ⟨10.1038/ejhg.2015.250⟩
Journal articles hal-01239808v1

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne , Caroline Nava , Boris Keren , Solveig Heide , Agnès Rastetter et al.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Journal articles hal-01502135v1
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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families

Valérie Cormier-Daire , Céline Huber , Geneviève Baujat , R Caumes , Honorine Kayirangwa et al.
First International Cilia in Development and Disease Scientific Conference, pp.O4
Conference papers inserm-00752961v1

XYLT1 Mutations in Desbuquois Dysplasia Type 2

Catherine Bui , Céline Huber , Beyhan Tuysuz , Yasemin Alanay , Christine Bole-Feysot et al.
American Journal of Human Genetics, 2014, 94 (3), pp.405 - 414. ⟨10.1016/j.ajhg.2014.01.020⟩
Journal articles hal-01704452v1

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

Anne Philippe , Valérie Malan , Marie-Line Jacquemont , Nathalie Boddaert , Jean-Paul Bonnefont et al.
American Journal of Medical Genetics Part A, 2013, 161 (6), pp.1370-5. ⟨10.1002/ajmg.a.35307⟩
Journal articles istex hal-00877108v1
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Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

Agnès Taillandier , Christelle Domingues , Clémence de Cazanove , Valérie Porquet-Bordes , Sophie Monnot et al.
Molecular Genetics and Metabolism, 2015, 116 (3), pp.215-220. ⟨10.1016/j.ymgme.2015.09.010⟩
Journal articles hal-01214009v1
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The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

Ariane Dimitrov , Vincent Paupe , Charles Gueudry , Jean-Baptiste Sibarita , Graça Raposo et al.
Human Molecular Genetics, 2009, 18 (3), pp.440-453. ⟨10.1093/hmg/ddn371⟩
Journal articles hal-02342676v1

Growth charts in Kabuki syndrome 1

Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu et al.
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
Journal articles hal-03388687v1
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29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

Marie-Lorraine Monin , Cyril Mignot , Pascale de Lonlay , Bénédicte Héron , Alice Masurel et al.
Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.207. ⟨10.1186/s13023-014-0207-4⟩
Journal articles hal-01112338v1

Healthcare trajectory of children with rare bone disease attending pediatric emergency departments

David Dawei Yang , Geneviève Baujat , Antoine Neuraz , Nicolas Garcelon , Claude Messiaen et al.
Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.2. ⟨10.1186/s13023-019-1284-1⟩
Journal articles hal-03887220v1
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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 Tuysuz et al.
Nature Communications, 2018, 9 (1), pp.3087. ⟨10.1038/s41467-018-05191-8⟩
Journal articles hal-01914333v1

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Matthieu Egloff , Lam-Son Nguyen , Karine Siquier-Pernet , Valérie Cormier-Daire , Geneviève Baujat et al.
European Journal of Human Genetics, 1970, 26 (6), pp.912-918. ⟨10.1038/s41431-018-0124-4⟩
Journal articles hal-02087837v1

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

Richard Redon , Geneviève Baujat , Damien Sanlaville , Martine Le Merrer , Michel Vekemans et al.
European Journal of Human Genetics, 2006, 14 (6), pp.759-767. ⟨10.1038/sj.ejhg.5201613⟩
Journal articles hal-02142127v1
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Fibrodysplasie ossifiante progressive et hétéroplasie ossifiante progressive

Geneviève Baujat , Caroline Michot , Kim-Hanh Le Quan Sang , Valérie Cormier-Daire
Revue du Rhumatisme monographies, 2019, 86, pp.40 - 45. ⟨10.1016/j.monrhu.2018.11.003⟩
Journal articles hal-03486559v1
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SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation

Zoe Durin , Johanne Dubail , Aurore Layotte , Dominique Legrand , Valérie Cormier-Daire et al.
Human Genetics, 2022, 141 (7), pp.1287-1298. ⟨10.1007/s00439-021-02420-x⟩
Journal articles hal-03538979v1

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

Erfan Aref-Eshghi , Jennifer Kerkhof , Victor Pedro , Mouna Barat-Houari , Nathalie Ruiz-Pallares et al.
American Journal of Human Genetics, 2020, 106 (3), pp.356-370. ⟨10.1016/j.ajhg.2020.01.019⟩
Journal articles hal-02538107v1
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A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

Mathilde Nizon , Marcia Henry , Caroline Michot , Clarisse Baumann , Anne Bazin et al.
Clinical Genetics, 2016, 89 (5), pp.584-589. ⟨10.1111/cge.12720⟩
Journal articles hal-01255844v1

The critical role of the TB5 domain of fibrillin-1 in endochondral ossification

Laure Delhon , Zakaria Mougin , Jérémie Jonquet , Angélique Bibimbou , Johanne Dubail et al.
Human Molecular Genetics, 2022, 31 (22), pp.3777-3788. ⟨10.1093/hmg/ddac131⟩
Journal articles hal-03946887v1
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac , Julie Thevenon , Lesley Ades , Bert Callewaert , Sophie Julia et al.
American Journal of Human Genetics, 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩
Journal articles hal-01670135v1

Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome

Vincent El Ghouzzi , Elisabeth Lajeunie , Martine Le Merrer , Valérie Cormier-Daire , Dominique Renier et al.
European Journal of Human Genetics, 1999, 7 (1), pp.27-33. ⟨10.1038/sj.ejhg.5200240⟩
Journal articles hal-02342815v1

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency

Laure Delhon , Clementine Mahaut , Nicolas Goudin , Emilie Gaudas , Kevin Piquand et al.
FASEB Journal, 2019, 33 (2), pp.2707-2718. ⟨10.1096/fj.201800753RR⟩
Journal articles hal-02137091v1

Orthopedics management of acromicric dysplasia: follow up of nine patients.

Céline Klein , Carine Le Goff , Vicken Topouchian , Sylvie Odent , Philippe Violas et al.
American Journal of Medical Genetics Part A, 2014, 164A (2), pp.331-7. ⟨10.1002/ajmg.a.36139⟩
Journal articles istex hal-00971298v1
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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 et al.
Human Molecular Genetics, 2019, 28, pp.2720-2737. ⟨10.1093/hmg/ddz091⟩
Journal articles hal-02391689v1

Healthcare trajectory of children with rare bone disease attending pediatric emergency departments

David Dawei Yang , Geneviève Baujat , Antoine Neuraz , Nicolas Garcelon , Claude Messiaen et al.
Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.2. ⟨10.1186/s13023-019-1284-1⟩
Journal articles hal-03962408v1