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

Plotkin, Scott R.; Messiaen, Ludwine; Legius, Eric; Pancza, Patrice; Avery, Robert A.; Blakeley, Jaishri O.; Babovic‐Vuksanovic, Dusica; Ferner, Rosalie E.; Fisher, Michael J.; Friedman, Jan M.; Giovannini, Marco; Gutmann, David H.; Hanemann, C. Oliver; Kalamarides, Michel; Kehrer‐Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor‐Felix; MacCollin, Mia; Papi, Laura; Rauen, Katherine A.; Riccardi, Vincent M.; Schorry, Elizabeth K.; Smith, Miriam J.; Stemmer‐Rachamimov, Anat; Stevenson, David A.; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Anten, Monique; Aylsworth, Arthur S.; Baralle, Diana; Barbarot, S.; Barker, Fred G.; Ben‐Shachar, Shay; Bergner, Amanda L.; Bessis, D.; Blanco, Ignacio; Cassiman, Cathérine; Ciavarelli, Patricia; Clementi, Maurizio; Frébourg, Thierry; Gomes, Alicia; Halliday, Dorothy; Heiberg, Chris Hammond Helen Hanson Arvid; Ly, K.H.; Jordan, Justin T.; Karajannis, Matthias A.; Kroshinsky, Daniela; Larralde, Margarita; Lázaro, Conxi; Le, Lu Q.; Link, Michael P.; Listernick, Robert; Mallucci, Conor; Merker, Vanessa L.; Moertel, Christopher L.; Mueller, Amy; Ngeow, Joanne; Oostenbrink, Rianne; Packer, Roger J.; Parry, Allyson; Peltonen, Juha; Pichard, Dominique C.; Poppe, Bruce; Rezende, Nilton Alves de; Rodrigues, Luiz Oswaldo Carneiro; Rosser, Tena; Ruggieri, Martino; Serra, Eduard; Steinke‐Lange, Verena; Stivaros, Stavros; Taylor, Amy; Toelen, Jaan; Tonsgard, James H.; Trevisson, Eva; Upadhyaya, Meena; Varan, Ali; Wilson, Meredith; Wu, Hao; Zadeh, Gelareh; Huson, Susan; Wolkenstein, P.; Evans, D. Gareth

doi:10.1016/j.gim.2022.05.007

articleGenetics in MedicineJun 9, 2022BRONZE OA

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

SRScott R. Plotkin LMLudwine Messiaen ELEric Legius PPPatrice Pancza RARobert A. Avery

Massachusetts General Hospital · University of Alabama at Birmingham · +36 more institutions

PubMed

Indexed incrossrefpubmed

Abstract

No abstract available for this paper.

Citation impact

272

total citations

FWCI: 29.21
Percentile: 100%
References: 42

Citations per year

Authors

SR
Scott R. PlotkinCorresponding
Massachusetts General Hospital
LM
Ludwine Messiaen
University of Alabama at Birmingham
EL
Eric Legius
KU Leuven
PP
Patrice Pancza
Children's Tumor Foundation
RA
Robert A. Avery
Children's Hospital of Philadelphia

Topics & keywords

Topics

Neurofibromatosis and Schwannoma Cases99%
Soft tissue tumors and treatment0%
Adrenal and Paraganglionic Tumors0%

Keywords

Neurofibromatosis
Medicine
Nomenclature
Neurofibromatosis type 2
Delphi method
Neurofibromatoses
Genetic testing
Pathology

No related works found for this paper.

Funding

UD
U.S. Department of Defense
CT
Children's Tumor Foundation
A
AstraZeneca
S
Sanofi
AP
Alexion Pharmaceuticals
RP
Regeneron Pharmaceuticals
PB
Puma Biotechnology
ST
Springworks Therapeutics
NI
National Institute for Health and Care Research
Awards: BRC-1215-20007, IS-BRC-1215, IS-BRC-1215-20007
NI
National Institutes of Health
Award: IS-BRC-1215-20007
MB
Manchester Biomedical Research Centre
Awards: IS-BRC-1215-20007, BRC-1215-20007, 20007, IS-BRC-1215