Anne Dieux‐Coëslier

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Éric Pasmant, Audrey Sabbagh, Gill Spurlock et al. · Human Mutation · 2010 · 241 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent, David Geneviève, Agnès Ostertag et al. · Genetics in Medicine · 2015 · 162 citations

Medicine, Clinical Sciences, Molecular Genetics +3

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli et al. · European Journal of Human Genetics · 2014 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

Geneviève Baujat, Céline Huber, Joyce El Hokayem et al. · Journal of Medical Genetics · 2013 · 93 citations

Medicine, Genetics, Molecular Genetics +15