Francesca Boaretto

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

Yuejuan Qin, Li Yao, Elizabeth E. King et al. · Nature Genetics · 2010 · 382 citations · Full text

Genetic Disorder, Medicine, Genetics +6

Spectrum and Prevalence of <i>FP/TMEM127</i> Gene Mutations in Pheochromocytomas and Paragangliomas

Li Yao, Francesca Schiavi, Alberto Cascón et al. · JAMA · 2010 · 199 citations

A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype

Gianluca Occhi, Daniela Regazzo, Giampaolo Trivellin et al. · PLoS Genetics · 2013 · 149 citations · Full text

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

Francesca Giusti, Luisella Cianferotti, Francesca Boaretto et al. · Endocrine · 2017 · 106 citations · Full text

Type 1, Data Analysis, Endocrine Oncology +11

Loss-of-function mutations in the<i>SIGMAR1</i>gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca²⁺signalling

Elisa Gregianin, Giorgia Pallafacchina, Sofia Zanin et al. · Human Molecular Genetics · 2016 · 93 citations · Full text