Valérie Cormier‐Daire

Research interests

Publications

• Nosology of genetic skeletal disorders: 2023 revision

  American Journal of Medical Genetics Part A · 2023 · https://doi.org/10.1002/ajmg.a.63132

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

  The American Journal of Human Genetics · 2020 · 10.1016/j.ajhg.2020.01.019

• Nosology and classification of genetic skeletal disorders: 2019 revision

  American Journal of Medical Genetics Part A · 2019 · https://doi.org/10.1002/ajmg.a.61366

• Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

  Nature Reviews Genetics · 2018 · https://doi.org/10.1038/s41576-018-0031-0

• Targeted therapy in patients with PIK3CA-related overgrowth syndrome

  Nature · 2018 · https://doi.org/10.1038/s41586-018-0217-9

• Nosology and classification of genetic skeletal disorders: 2015 revision

  American Journal of Medical Genetics Part A · 2015 · https://doi.org/10.1002/ajmg.a.37365

• Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

  The Journal of Experimental Medicine · 2015 · 10.1084/jem.20140280

• Ciliary disorder of the skeleton

  American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2012 · 10.1002/ajmg.c.31336

• Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.1105

• Nosology and classification of genetic skeletal disorders: 2010 revision

  American Journal of Medical Genetics Part A · 2011 · https://doi.org/10.1002/ajmg.a.33909

• Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

  Human Mutation · 2010 · 10.1002/humu.21384

• DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

  The American Journal of Human Genetics · 2009 · 10.1016/j.ajhg.2009.04.016

• Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

  Journal of Medical Genetics · 2009 · 10.1136/jmg.2008.062950

• Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

  The Journal of Experimental Medicine · 2008 · 10.1084/jem.20080321

• Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

  The American Journal of Human Genetics · 2006 · 10.1086/505693

• Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

  Journal of Medical Genetics · 2006 · 10.1136/jmg.2006.043166

• Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

  The American Journal of Human Genetics · 2005 · 10.1086/432082

• Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

  The American Journal of Human Genetics · 2004 · https://doi.org/10.1086/422013

• Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

  Nature Genetics · 2004 · 10.1038/ng1319

• ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

  The American Journal of Human Genetics · 2004 · 10.1086/425231

• In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome: Figure 1

  Journal of Medical Genetics · 2003 · 10.1136/jmg.40.1.34

• Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

  The American Journal of Human Genetics · 2001 · 10.1086/320603

• Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

  The American Journal of Human Genetics · 2000 · 10.1016/s0002-9297(07)62940-1

• SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

  Nature Genetics · 1998 · 10.1038/ng0198-67

• CHARGE syndrome: Report of 47 cases and review

  American Journal of Medical Genetics · 1998 · 10.1002/(sici)1096-8628(19980413)76:5<402::aid-ajmg7>3.0.co;2-o

• Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

  Journal of Clinical Investigation · 1990 · https://doi.org/10.1172/jci114881

Current projects

No projects listed.