Sophie Naudion

Marfan Sartan: a randomized, double-blind, placebo-controlled trial

Olivier Milleron, Florence Arnoult, Jacques Ropers et al. · European Heart Journal · 2015 · 209 citations · Full text

International Registry of Patients Carrying <i>TGFBR1</i> or <i>TGFBR2</i> Mutations

Guillaume Jondeau, Jacques Ropers, Ellen S. Regalado et al. · Circulation Cardiovascular Genetics · 2016 · 192 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

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Zinan Zhang, Florian Gothe, Perrine Pennamen et al. · The Journal of Experimental Medicine · 2019 · 88 citations · Full text

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Marine Legendre, Véronique Abadie, Tania Attié‐Bitach et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 75 citations · Full text