Concepedia

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 E. Ferner, Michael J. Fisher, Jan M. Friedman,

Genetics in Medicine · 2022 · 276 citations · 33 references

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33

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

, , +17

Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

Isabella Versteege, Nicolas Sévenet, Julian Lange et al. · Nature · 1998 · 1.5K citations

, , +12

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

Guy A. Rouleau, P. Merel, Mohini Lutchman et al. · Nature · 1993 · 1.4K citations

, , +9

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 · 771 citations · Full text

, , +14