Maria Rosaria Esposito

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Immacolata Andolfo, Seth L. Alper, Lucia De Franceschi et al. · Blood · 2013 · 322 citations

Life Sciences, Genetics, Molecular Genetics +5

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

Klaus Schwarz, Achille Iolascon, Fátima Verı́ssimo et al. · Nature Genetics · 2009 · 284 citations

Life Sciences, Genetics, Molecular Genetics +9

Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression

Vito Alessandro Lasorsa, Daniela Formicola, Piero Pignataro et al. · Oncotarget · 2016 · 87 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia

Immacolata Andolfo, Seth L. Alper, J. Delaunay et al. · American Journal of Hematology · 2012 · 83 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis

Achille Iolascon, Luigia De Falco, Franck Borgèse et al. · Haematologica · 2009 · 68 citations · Full text

Medicine, Genetics, Hematology +17