Texas Neurofibromatosis Foundation

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

Meena Upadhyaya, Susan Huson, D. M. Davies et al. · The American Journal of Human Genetics · 2006 · 361 citations · Full text

Medicine, Genetics, Molecular Genetics +13

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

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

Lucille M. Kayes, Wylie Burke, Vincent M. Riccardi et al. · PubMed · 1994 · 211 citations

Life Sciences, Genetics, Molecular Genetics +11

Contributions of inflammation and tumor microenvironment to neurofibroma tumorigenesis

Chung-Ping Liao, Reid C. Booker, Jean‐Philippe Brosseau et al. · Journal of Clinical Investigation · 2018 · 152 citations · Full text

Medicine, Oncology, Pathology +14

Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1

Karin S. Walsh, Jorge I. Vélez, P. Kardel et al. · Developmental Medicine & Child Neurology · 2012 · 134 citations · Full text

Medicine, Neurology, Psychiatry +13