Shay Ben‐Shachar

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

Medicine, Dermatology, Ophthalmology +14

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 · 276 citations · Full text

Medicine, Genetics, Neurology +16

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Fever-induced Brugada pattern: How common is it and what does it mean?

Arnon Adler, Guy Topaz, Karin Heller et al. · Heart Rhythm · 2013 · 181 citations

Veterinary Medicine, Infectious Diseases, Outbreak Investigation +1

Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

Anthony J. Bleyer, Stanislav Kmoch, Corinne Antignac et al. · Clinical Journal of the American Society of Nephrology · 2014 · 85 citations · Full text

Medicine, Genetics, Molecular Genetics +14