Isabella Ceccherini

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, Kotb Abdelmohsen, Akihisa Abe et al. · Autophagy · 2016 · 6K citations · Full text

Life Sciences, Cell Biology, Pathology +9

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

Robert M.W. Hofstra, Rudy M. Landsvater, Isabella Ceccherini et al. · Nature · 1994 · 1.2K citations

Medicine, Genetics, Oncology +16

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt et al. · Nature Genetics · 1998 · 818 citations

Life Sciences, Genetics, Molecular Genetics +11

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

Giovanni Romeo, Patrizia Ronchetto, Yin Luo et al. · Nature · 1994 · 704 citations

Medicine, Genetics, Molecular Genetics +16

An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management

Debra E. Weese‐Mayer, Elizabeth Berry‐Kravis, Isabella Ceccherini et al. · American Journal of Respiratory and Critical Care Medicine · 2010 · 505 citations

Medicine, Internal Medicine, Pediatrics +3