Kaleb Yohay

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

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Douglas R. Stewart, Bruce R. Korf, Katherine L. Nathanson et al. · Genetics in Medicine · 2018 · 195 citations · Full text

Life Sciences, Genetics, Neurology +9

Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study

Miriam Nickel, Alessandro Simonati, David Jacoby et al. · The Lancet Child & Adolescent Health · 2018 · 139 citations · Full text

Medicine, Neurology, Pediatrics +6

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17