Cormier-Dairé, Valeŕie

Top Publications

Top Publications Authored or Co-Authored by "Cormier-Dairé, Valeŕie"

• Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

  American Journal of Human Genetics, Volume 75, No. 1, Year 2004, Citations 333
• Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

  Journal of Experimental Medicine, Volume 212, No. 10, Year 2015, Citations 276
• ADAMTS10 mutations in autosomal recessive weill-marchesani syndrome

  American Journal of Human Genetics, Volume 75, No. 5, Year 2004, Citations 262
• Mutations in the TGFβb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 204
• The mutation spectrum in RECQL4 diseases

  European Journal of Human Genetics, Volume 17, No. 2, Year 2009, Citations 193