Audrey Briand‐Suleau

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

Jacques Young, Corinne Métay, Jérôme Bouligand et al. · Human Reproduction · 2012 · 139 citations · Full text

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Sandra Whalen, Delphine Héron, Thierry Gaillon et al. · Human Mutation · 2011 · 128 citations

Missense Mutations, Clinical Diagnosis Score, Genetics +19

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Éric Pasmant, Béatrice Parfait, Armelle Luscan et al. · European Journal of Human Genetics · 2014 · 119 citations · Full text

Large Gene, Molecular Diagnosis, Mendelian Disorder +13

FSHD1 and FSHD2 form a disease continuum

Sabrina Sacconi, Audrey Briand‐Suleau, Marilyn Gros et al. · Neurology · 2019 · 83 citations · Full text

Confirmation of mutation landscape of NF1‐associated malignant peripheral nerve sheath tumors

Pierre Sohier, Armelle Luscan, Angharad Lloyd et al. · Genes Chromosomes and Cancer · 2017 · 74 citations