Laura Papi

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

Lois M. Mulligan, John B. Kwok, Catherine S. Healey et al. · Nature · 1993 · 2K citations

Endocrine Oncology, Germ-line Mutations, Developmental Biology +7

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius, Ludwine Messiaen, P. Wolkenstein et al. · Genetics in Medicine · 2021 · 687 citations · Full text

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Scott R. Plotkin, Ludwine Messiaen, Eric Legius et al. · Genetics in Medicine · 2022 · 247 citations · Full text

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

Scott R. Plotkin, Jaishri O. Blakeley, D. Gareth Evans et al. · American Journal of Medical Genetics Part A · 2013 · 183 citations · Full text

Schwannomatosis Update, Neurological Disorder, Pathology +19

Evidence of a four-hit mechanism involving<i>SMARCB1</i>and<i>NF2</i>in schwannomatosis-associated schwannomas

Roberta Sestini, Costanza Bacci, Aldesia Provenzano et al. · Human Mutation · 2007 · 179 citations

Neuro-oncology, Somatic Variant, Mendelian Disorder +15