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

Scott R. Plotkin; Ludwine Messiaen; Eric Legius; Patrice Pancza; Robert A. Avery; Jaishri O. Blakeley; Dusica Babovic-Vuksanovic; Rosalie Ferner; Michael J. Fisher; Jan M. Friedman; Marco Giovannini; David H. Gutmann; Clemens Oliver Hanemann; Michel Kalamarides; Hildegard Kehrer-Sawatzki; Bruce R. Korf; Victor Felix Mautner; Mia MacCollin; Laura Papi; Katherine A. Rauen; Vincent Riccardi; Elizabeth Schorry; Miriam J. Smith; Anat Stemmer-Rachamimov; David A. Stevenson; Nicole J. Ullrich; David Viskochil; Katharina Wimmer; Kaleb Yohay; SM Huson; P Wolkenstein; DG Evans; Monique Anten; Arthur Aylsworth; Diana Baralle; Sebastien Barbarot; Fred Barker; Shay Ben-Shachar; Amanda Bergner; Didier Bessis; Ignacio Blanco; Catherine Cassiman; Patricia Ciavarelli; Maurizio Clementi; Thierry Frébourg; Alicia Gomes; Dorothy Halliday; Hanson Arvid Heiberg CH Helen; Pascal Joly; Justin T. Jordan; Matthias Karajannis; Daniela Kroshinsky; Margarita Larralde; C Lázaro; L Le; M Link; R Listernick; C Mallucci; VL Merker; C Moertel; A Mueller; J Ngeow; R Oostenbrink; R Packer; A Parry; J Peltonen; D Pichard; B Poppe; N Rezende; LO Rodrigues; T Rosser; M Ruggieri; E Serra; V Steinke-Lange; SM Stivaros; A Taylor; J Toelen; J Tonsgard; E Trevisson; M Upadhyaya; A Varan; M Wilson; H Wu; G Zadeh

doi:10.1016/j.gim.2022.05.007

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

Scott R. Plotkin^*
, Ludwine Messiaen
, Eric Legius
, Patrice Pancza
, Robert A. Avery
, Jaishri O. Blakeley
, Dusica Babovic-Vuksanovic
, Rosalie Ferner
, Michael J. Fisher
, Jan M. Friedman
, Marco Giovannini
, David H. Gutmann
, Clemens Oliver Hanemann
, Michel Kalamarides
, Hildegard Kehrer-Sawatzki
, Bruce R. Korf
, Victor Felix Mautner
, Mia MacCollin
, Laura Papi
, Katherine A. Rauen

Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, SM Huson, P Wolkenstein, DG Evans, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Hanson Arvid Heiberg CH Helen, Pascal Joly, Justin T. Jordan, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, C Lázaro, L Le, M Link, R Listernick, C Mallucci, VL Merker, C Moertel, A Mueller, J Ngeow, R Oostenbrink, R Packer, A Parry, J Peltonen, D Pichard, B Poppe, N Rezende, LO Rodrigues, T Rosser, M Ruggieri, E Serra, V Steinke-Lange, SM Stivaros, A Taylor, J Toelen, J Tonsgard, E Trevisson, M Upadhyaya, A Varan, M Wilson, H Wu, G Zadeh

^*Corresponding author for this work

Peninsula Medical School

Harvard University
University of Alabama at Birmingham
KU Leuven
Children's Tumor Foundation (CTF)
University of Pennsylvania
Johns Hopkins University
Mayo Clinic College of Medicine and Science
Guy's and St Thomas' NHS Foundation Trust
University of British Columbia
University of California at Los Angeles
Washington University St. Louis
Sorbonne Université
Ulm University
University of Hamburg
Pediatric Neurology
University of Florence
University of California at Davis
The Neurofibromatosis Institute
Cincinnati Children's Hospital Medical Center
University of Manchester
Stanford University
University of Utah
Innsbruck Medical University
New York University

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Original language	English
Number of pages	0
Journal	Genetics in Medicine
Volume	0
Issue number	0
Early online date	9 Jun 2022
DOIs	https://doi.org/10.1016/j.gim.2022.05.007
Publication status	Published - 9 Jun 2022

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10.1016/j.gim.2022.05.007

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Plotkin, S. R., Messiaen, L., Legius, E., Pancza, P., Avery, R. A., Blakeley, J. O., Babovic-Vuksanovic, D., Ferner, R., Fisher, M. J., Friedman, J. M., Giovannini, M., Gutmann, D. H., Hanemann, C. O., Kalamarides, M., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. F., MacCollin, M., Papi, L., ... Zadeh, G. (2022). Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genetics in Medicine, 0(0). https://doi.org/10.1016/j.gim.2022.05.007

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title = "Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation",

author = "Plotkin, \{Scott R.\} and Ludwine Messiaen and Eric Legius and Patrice Pancza and Avery, \{Robert A.\} and Blakeley, \{Jaishri O.\} and Dusica Babovic-Vuksanovic and Rosalie Ferner and Fisher, \{Michael J.\} and Friedman, \{Jan M.\} and Marco Giovannini and Gutmann, \{David H.\} and Hanemann, \{Clemens Oliver\} and Michel Kalamarides and Hildegard Kehrer-Sawatzki and Korf, \{Bruce R.\} and Mautner, \{Victor Felix\} and Mia MacCollin and Laura Papi and Rauen, \{Katherine A.\} and Vincent Riccardi and Elizabeth Schorry and Smith, \{Miriam J.\} and Anat Stemmer-Rachamimov and Stevenson, \{David A.\} and Ullrich, \{Nicole J.\} and David Viskochil and Katharina Wimmer and Kaleb Yohay and SM Huson and P Wolkenstein and DG Evans and Monique Anten and Arthur Aylsworth and Diana Baralle and Sebastien Barbarot and Fred Barker and Shay Ben-Shachar and Amanda Bergner and Didier Bessis and Ignacio Blanco and Catherine Cassiman and Patricia Ciavarelli and Maurizio Clementi and Thierry Fr{\'e}bourg and Alicia Gomes and Dorothy Halliday and Helen, \{Hanson Arvid Heiberg CH\} and Pascal Joly and Jordan, \{Justin T.\} and Matthias Karajannis and Daniela Kroshinsky and Margarita Larralde and C L{\'a}zaro and L Le and M Link and R Listernick and C Mallucci and VL Merker and C Moertel and A Mueller and J Ngeow and R Oostenbrink and R Packer and A Parry and J Peltonen and D Pichard and B Poppe and N Rezende and LO Rodrigues and T Rosser and M Ruggieri and E Serra and V Steinke-Lange and SM Stivaros and A Taylor and J Toelen and J Tonsgard and E Trevisson and M Upadhyaya and A Varan and M Wilson and H Wu and G Zadeh",

year = "2022",

month = jun,

day = "9",

doi = "10.1016/j.gim.2022.05.007",

language = "English",

volume = "0",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Elsevier B.V.",

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}

Plotkin, SR, Messiaen, L, Legius, E, Pancza, P, Avery, RA, Blakeley, JO, Babovic-Vuksanovic, D, Ferner, R, Fisher, MJ, Friedman, JM, Giovannini, M, Gutmann, DH, Hanemann, CO, Kalamarides, M, Kehrer-Sawatzki, H, Korf, BR, Mautner, VF, MacCollin, M, Papi, L, Rauen, KA, Riccardi, V, Schorry, E, Smith, MJ, Stemmer-Rachamimov, A, Stevenson, DA, Ullrich, NJ, Viskochil, D, Wimmer, K, Yohay, K, Huson, SM, Wolkenstein, P, Evans, DG, Anten, M, Aylsworth, A, Baralle, D, Barbarot, S, Barker, F, Ben-Shachar, S, Bergner, A, Bessis, D, Blanco, I, Cassiman, C, Ciavarelli, P, Clementi, M, Frébourg, T, Gomes, A, Halliday, D, Helen, HAHCH, Joly, P, Jordan, JT, Karajannis, M, Kroshinsky, D, Larralde, M, Lázaro, C, Le, L, Link, M, Listernick, R, Mallucci, C, Merker, VL, Moertel, C, Mueller, A, Ngeow, J, Oostenbrink, R, Packer, R, Parry, A, Peltonen, J, Pichard, D, Poppe, B, Rezende, N, Rodrigues, LO, Rosser, T, Ruggieri, M, Serra, E, Steinke-Lange, V, Stivaros, SM, Taylor, A, Toelen, J, Tonsgard, J, Trevisson, E, Upadhyaya, M, Varan, A, Wilson, M, Wu, H & Zadeh, G 2022, 'Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation', Genetics in Medicine, vol. 0, no. 0. https://doi.org/10.1016/j.gim.2022.05.007

TY - JOUR

T1 - Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

AU - Plotkin, Scott R.

AU - Messiaen, Ludwine

AU - Legius, Eric

AU - Pancza, Patrice

AU - Avery, Robert A.

AU - Blakeley, Jaishri O.

AU - Babovic-Vuksanovic, Dusica

AU - Ferner, Rosalie

AU - Fisher, Michael J.

AU - Friedman, Jan M.

AU - Giovannini, Marco

AU - Gutmann, David H.

AU - Hanemann, Clemens Oliver

AU - Kalamarides, Michel

AU - Kehrer-Sawatzki, Hildegard

AU - Korf, Bruce R.

AU - Mautner, Victor Felix

AU - MacCollin, Mia

AU - Papi, Laura

AU - Rauen, Katherine A.

AU - Riccardi, Vincent

AU - Schorry, Elizabeth

AU - Smith, Miriam J.

AU - Stemmer-Rachamimov, Anat

AU - Stevenson, David A.

AU - Ullrich, Nicole J.

AU - Viskochil, David

AU - Wimmer, Katharina

AU - Yohay, Kaleb

AU - Huson, SM

AU - Wolkenstein, P

AU - Evans, DG

AU - Anten, Monique

AU - Aylsworth, Arthur

AU - Baralle, Diana

AU - Barbarot, Sebastien

AU - Barker, Fred

AU - Ben-Shachar, Shay

AU - Bergner, Amanda

AU - Bessis, Didier

AU - Blanco, Ignacio

AU - Cassiman, Catherine

AU - Ciavarelli, Patricia

AU - Clementi, Maurizio

AU - Frébourg, Thierry

AU - Gomes, Alicia

AU - Halliday, Dorothy

AU - Helen, Hanson Arvid Heiberg CH

AU - Joly, Pascal

AU - Jordan, Justin T.

AU - Karajannis, Matthias

AU - Kroshinsky, Daniela

AU - Larralde, Margarita

AU - Lázaro, C

AU - Le, L

AU - Link, M

AU - Listernick, R

AU - Mallucci, C

AU - Merker, VL

AU - Moertel, C

AU - Mueller, A

AU - Ngeow, J

AU - Oostenbrink, R

AU - Packer, R

AU - Parry, A

AU - Peltonen, J

AU - Pichard, D

AU - Poppe, B

AU - Rezende, N

AU - Rodrigues, LO

AU - Rosser, T

AU - Ruggieri, M

AU - Serra, E

AU - Steinke-Lange, V

AU - Stivaros, SM

AU - Taylor, A

AU - Toelen, J

AU - Tonsgard, J

AU - Trevisson, E

AU - Upadhyaya, M

AU - Varan, A

AU - Wilson, M

AU - Wu, H

AU - Zadeh, G

PY - 2022/6/9

Y1 - 2022/6/9

UR - https://pearl.plymouth.ac.uk/pms-research/778/

U2 - 10.1016/j.gim.2022.05.007

DO - 10.1016/j.gim.2022.05.007

M3 - Article

SN - 1098-3600

VL - 0

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 0

ER -

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

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