Dusica Babovic‐Vuksanovic

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

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Arkadiusz Piotrowski, Jing Xie, Ying F Liu et al. · Nature Genetics · 2013 · 322 citations

Life Sciences, Genetics, Molecular Genetics +15

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng et al. · Cell · 2010 · 311 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

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

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang et al. · Neuron · 2020 · 222 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12