James H. Tonsgard

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 · 687 citations · Full text

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 188 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17

CT imaging in adults with neurofibromatosis‐1

James H. Tonsgard, Sandy Kwak, M. Priscilla Short et al. · Neurology · 1998 · 156 citations

A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA Dehydrogenase

Toshifumi Aoyama, Yasushi Uchida, Richard I. Kelley et al. · Biochemical and Biophysical Research Communications · 1993 · 151 citations

Mendelian Disorder, Aldehyde Dehydrogenase, Biochemistry +10

NF106: A Neurofibromatosis Clinical Trials Consortium Phase II Trial of the MEK Inhibitor Mirdametinib (PD-0325901) in Adolescents and Adults With NF1-Related Plexiform Neurofibromas

Brian Weiss, Pamela L. Wolters, Scott R. Plotkin et al. · Journal of Clinical Oncology · 2021 · 136 citations · Full text