Laurence E. Walsh

The core <i>FOXG1</i> syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Fanny Kortüm, Soma Das, M. Flindt et al. · Journal of Medical Genetics · 2011 · 247 citations

Life Sciences, Genetics, Molecular Genetics +17

Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial

Kent A. Robertson, Grzegorz Nalepa, Feng‐Chun Yang et al. · The Lancet Oncology · 2012 · 235 citations

Medicine, Neurology, Oncology +6

Rapid‐onset dystonia‐parkinsonism

William B. Dobyns, Laurie J. Ozelius, P. L. Kramer et al. · Neurology · 1993 · 191 citations

Life Sciences, Genetics, Neurology +16

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2018 · 186 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes et al. · Genetics in Medicine · 2018 · 93 citations · Full text

Medicine, Molecular Genetics, Neurology +11