Elodie Sanchez

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)

Sylvie Grandemange, Elodie Sanchez, Pascale Louis‐Plence et al. · Annals of the Rheumatic Diseases · 2016 · 220 citations

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen, Vincent Gâtinois, Vera Riehmer et al. · Human Mutation · 2016 · 183 citations · Full text

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 · 159 citations

Large Series, Collins Syndrome, Molecular Study +1

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

Elodie Sanchez, Béryl Laplace-Builhe, Frédéric Tran Mau‐Them et al. · Genetics in Medicine · 2019 · 91 citations · Full text

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

Élise Schaefer, Corinne Collet, David Geneviève et al. · Genetics in Medicine · 2014 · 69 citations · Full text

Mendelian Disorder, Treacher Collins, Tcof1 Mrna +7