Fabienne Toutain

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

Juliette Albuisson, Swetha E. Murthy, Michael Bandell et al. · Nature Communications · 2013 · 383 citations · Full text

Natural Sciences, Genetics, Molecular Genetics +14

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

Jean Donadieu, Marie Lamant, Claire Fieschi et al. · Haematologica · 2018 · 178 citations · Full text

Life Sciences, Genetics, Hematology +17

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia

Laura Silvestri, Flavia Guillem, Alessia Pagani et al. · Blood · 2009 · 121 citations · Full text

Medicine, Genetics, Molecular Biology +17

Clinical and biological features in <i>PIEZO1</i>-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

Véronique Picard, Corinne Guitton, Isabelle Thuret et al. · Haematologica · 2019 · 119 citations · Full text

Life Sciences, Genetics, Hematology +14

Unstable Alpha Hemoglobin Stabilizing Protein as a Cause of Thalassemia: Proof of Concept.

Serge Pissard, Corinne Vasseur, Fabienne Toutain et al. · Blood · 2009 · 67 citations

Medicine, Biochemistry, Hematology +8